Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Unc80'

592554

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C230061B10Rik, C030018G13Rik

MMRRC Submission

045745-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66507526-66738307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66688881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2415 (I2415T)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061620] [ENSMUST00000212557]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061620
AA Change: I2415T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: I2415T

Domain	Start	End	E-Value	Type
Pfam:UNC80	16	236	2.2e-94	PFAM
low complexity region	372	385	N/A	INTRINSIC
low complexity region	493	502	N/A	INTRINSIC
low complexity region	693	711	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	739	769	N/A	INTRINSIC
low complexity region	1038	1055	N/A	INTRINSIC
low complexity region	1067	1084	N/A	INTRINSIC
low complexity region	1309	1328	N/A	INTRINSIC
low complexity region	1477	1489	N/A	INTRINSIC
low complexity region	1676	1681	N/A	INTRINSIC
low complexity region	1842	1848	N/A	INTRINSIC
low complexity region	1854	1868	N/A	INTRINSIC
low complexity region	2461	2480	N/A	INTRINSIC
low complexity region	2726	2740	N/A	INTRINSIC
low complexity region	3121	3144	N/A	INTRINSIC
low complexity region	3245	3254	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000212557
AA Change: I2347T

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	A	5: 8,137,750 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,607,074 (GRCm39)	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,242,572 (GRCm39)	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,044,649 (GRCm39)	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,622,300 (GRCm39)	M663I	probably damaging	Het
Cemip2	C	A	19: 21,775,480 (GRCm39)	T241K	probably damaging	Het
Clec2g	A	G	6: 128,956,400 (GRCm39)	E72G	probably damaging	Het
Col12a1	T	A	9: 79,558,768 (GRCm39)	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 132,616,353 (GRCm39)	V194A	probably benign	Het
Cttnbp2	G	T	6: 18,382,809 (GRCm39)	L1320I	probably damaging	Het
E2f2	T	A	4: 135,920,137 (GRCm39)	L374*	probably null	Het
Echdc3	C	T	2: 6,217,687 (GRCm39)	G29S	probably benign	Het
Ecm1	A	G	3: 95,643,494 (GRCm39)	S269P	probably damaging	Het
Elmo2	G	A	2: 165,133,664 (GRCm39)	P775S	unknown	Het
Eno3	T	A	11: 70,549,993 (GRCm39)		probably null	Het
Faf1	G	A	4: 109,687,061 (GRCm39)	R267K	probably benign	Het
Fam162a	G	A	16: 35,870,307 (GRCm39)		probably benign	Het
Fam178b	T	A	1: 36,603,532 (GRCm39)	D473V	probably damaging	Het
Fat2	G	A	11: 55,173,156 (GRCm39)	T2519I	probably damaging	Het
Foxc2	A	G	8: 121,844,834 (GRCm39)	Y494C	probably damaging	Het
Gcnt2	C	A	13: 41,107,195 (GRCm39)	Q355K	probably benign	Het
Glg1	G	T	8: 111,905,497 (GRCm39)	H595N	probably benign	Het
Gm9913	A	T	2: 125,348,480 (GRCm39)	H97L	unknown	Het
Hbegf	T	A	18: 36,640,601 (GRCm39)	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,667,866 (GRCm39)	T567I	probably damaging	Het
Idh3a	C	T	9: 54,502,453 (GRCm39)	P78S	probably damaging	Het
Igsf10	A	T	3: 59,226,761 (GRCm39)	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,573,428 (GRCm39)	T723A	unknown	Het
Itpr2	A	T	6: 146,089,048 (GRCm39)	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,059,999 (GRCm39)	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,764,325 (GRCm39)	D155G	probably damaging	Het
Lrp1	A	G	10: 127,409,922 (GRCm39)	C1554R	probably damaging	Het
Lrrc10	A	G	10: 116,881,662 (GRCm39)	D112G	probably benign	Het
Med12l	A	G	3: 58,984,141 (GRCm39)	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,301,868 (GRCm39)	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,527,101 (GRCm39)	M234K	probably damaging	Het
Myh7b	C	A	2: 155,459,698 (GRCm39)		probably null	Het
Myo1d	T	C	11: 80,567,719 (GRCm39)	M254V	possibly damaging	Het
Nbas	T	C	12: 13,465,662 (GRCm39)	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Neb	A	G	2: 52,096,714 (GRCm39)	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,986,927 (GRCm39)	Q196K	probably benign	Het
Nsd3	A	T	8: 26,149,833 (GRCm39)	E339D	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or11g1	T	C	14: 50,651,471 (GRCm39)	F157L	probably damaging	Het
Or6c206	A	G	10: 129,096,937 (GRCm39)	S36G	probably damaging	Het
Or7d11	T	C	9: 19,965,901 (GRCm39)	N168S	probably damaging	Het
Plxna1	C	T	6: 89,308,882 (GRCm39)	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,315,873 (GRCm39)	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,168,142 (GRCm39)	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,929,282 (GRCm39)	M170V	probably benign	Het
Scfd2	A	C	5: 74,619,297 (GRCm39)	F440V	probably benign	Het
Slc22a19	T	A	19: 7,688,302 (GRCm39)	D86V	possibly damaging	Het
Smg5	A	G	3: 88,261,202 (GRCm39)	N685S	possibly damaging	Het
Spata46	A	G	1: 170,139,333 (GRCm39)	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248 (GRCm39)	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,040,309 (GRCm39)	D35G	probably damaging	Het
Tcf20	A	T	15: 82,735,766 (GRCm39)	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,369,630 (GRCm39)	Q112K	possibly damaging	Het
Trmt10c	T	A	16: 55,855,302 (GRCm39)	D111V	probably benign	Het
Vmn2r107	A	T	17: 20,576,901 (GRCm39)	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,416,943 (GRCm39)	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,332,425 (GRCm39)	H408L	probably benign	Het
Zan	C	T	5: 137,461,802 (GRCm39)	V1126M	unknown	Het
Zfp493	A	T	13: 67,927,814 (GRCm39)		probably benign	Het
Zfp618	C	A	4: 63,004,858 (GRCm39)	A86E	probably benign	Het

Other mutations in Unc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Unc80	APN	1	66,693,554 (GRCm39)	missense	possibly damaging	0.53
IGL00340:Unc80	APN	1	66,645,618 (GRCm39)	missense	possibly damaging	0.73
IGL00783:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00784:Unc80	APN	1	66,647,596 (GRCm39)	missense	probably benign	0.37
IGL00935:Unc80	APN	1	66,666,425 (GRCm39)	missense	possibly damaging	0.53
IGL01094:Unc80	APN	1	66,734,592 (GRCm39)	missense	possibly damaging	0.90
IGL01466:Unc80	APN	1	66,661,645 (GRCm39)	missense	probably benign	0.33
IGL01577:Unc80	APN	1	66,569,127 (GRCm39)	splice site	probably null
IGL01626:Unc80	APN	1	66,590,213 (GRCm39)	critical splice donor site	probably null
IGL01640:Unc80	APN	1	66,718,744 (GRCm39)	missense	probably benign	0.33
IGL01775:Unc80	APN	1	66,640,215 (GRCm39)	missense	possibly damaging	0.94
IGL01960:Unc80	APN	1	66,647,659 (GRCm39)	splice site	probably benign
IGL01991:Unc80	APN	1	66,508,668 (GRCm39)	nonsense	probably null
IGL02022:Unc80	APN	1	66,665,675 (GRCm39)	missense	possibly damaging	0.53
IGL02073:Unc80	APN	1	66,651,386 (GRCm39)	missense	possibly damaging	0.85
IGL02077:Unc80	APN	1	66,564,875 (GRCm39)	missense	possibly damaging	0.77
IGL02197:Unc80	APN	1	66,569,224 (GRCm39)	missense	probably benign	0.39
IGL02198:Unc80	APN	1	66,569,145 (GRCm39)	missense	possibly damaging	0.88
IGL02228:Unc80	APN	1	66,647,587 (GRCm39)	missense	possibly damaging	0.72
IGL02327:Unc80	APN	1	66,680,832 (GRCm39)	missense	probably benign	0.33
IGL02447:Unc80	APN	1	66,542,703 (GRCm39)	missense	possibly damaging	0.86
IGL02489:Unc80	APN	1	66,564,860 (GRCm39)	missense	probably benign	0.07
IGL02546:Unc80	APN	1	66,594,112 (GRCm39)	missense	possibly damaging	0.83
IGL02629:Unc80	APN	1	66,522,476 (GRCm39)	missense	possibly damaging	0.46
IGL02631:Unc80	APN	1	66,569,222 (GRCm39)	missense	probably damaging	0.98
IGL02839:Unc80	APN	1	66,710,834 (GRCm39)	missense	possibly damaging	0.53
IGL02960:Unc80	APN	1	66,717,217 (GRCm39)	splice site	probably benign
IGL02974:Unc80	APN	1	66,564,817 (GRCm39)	missense	possibly damaging	0.95
IGL03060:Unc80	APN	1	66,676,169 (GRCm39)	missense	possibly damaging	0.96
IGL03062:Unc80	APN	1	66,548,648 (GRCm39)	missense	probably damaging	0.96
IGL03074:Unc80	APN	1	66,710,877 (GRCm39)	splice site	probably benign
IGL03086:Unc80	APN	1	66,548,633 (GRCm39)	missense	probably damaging	0.99
IGL03105:Unc80	APN	1	66,511,258 (GRCm39)	missense	probably damaging	0.96
IGL03107:Unc80	APN	1	66,670,613 (GRCm39)	missense	probably damaging	0.98
IGL03158:Unc80	APN	1	66,680,833 (GRCm39)	missense	probably benign	0.33
IGL03220:Unc80	APN	1	66,544,097 (GRCm39)	missense	probably damaging	0.99
IGL03271:Unc80	APN	1	66,734,762 (GRCm39)	unclassified	probably benign
IGL03332:Unc80	APN	1	66,542,790 (GRCm39)	missense	probably damaging	1.00
IGL03347:Unc80	APN	1	66,734,625 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66,546,550 (GRCm39)	missense	probably damaging	1.00
R0026:Unc80	UTSW	1	66,560,743 (GRCm39)	missense	probably benign	0.27
R0055:Unc80	UTSW	1	66,545,782 (GRCm39)	splice site	probably benign
R0149:Unc80	UTSW	1	66,560,760 (GRCm39)	missense	possibly damaging	0.82
R0325:Unc80	UTSW	1	66,550,040 (GRCm39)	missense	probably damaging	1.00
R0329:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0330:Unc80	UTSW	1	66,713,246 (GRCm39)	missense	possibly damaging	0.96
R0355:Unc80	UTSW	1	66,589,015 (GRCm39)	missense	possibly damaging	0.77
R0412:Unc80	UTSW	1	66,590,096 (GRCm39)	splice site	probably benign
R0422:Unc80	UTSW	1	66,522,497 (GRCm39)	missense	probably damaging	1.00
R0477:Unc80	UTSW	1	66,609,160 (GRCm39)	missense	probably damaging	0.99
R0507:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0513:Unc80	UTSW	1	66,661,633 (GRCm39)	missense	possibly damaging	0.73
R0553:Unc80	UTSW	1	66,545,828 (GRCm39)	missense	probably damaging	0.97
R0626:Unc80	UTSW	1	66,647,601 (GRCm39)	missense	probably benign	0.01
R0655:Unc80	UTSW	1	66,542,940 (GRCm39)	missense	probably damaging	0.98
R0742:Unc80	UTSW	1	66,567,052 (GRCm39)	missense	possibly damaging	0.66
R0755:Unc80	UTSW	1	66,544,082 (GRCm39)	missense	probably damaging	1.00
R0782:Unc80	UTSW	1	66,661,740 (GRCm39)	missense	possibly damaging	0.53
R0837:Unc80	UTSW	1	66,688,103 (GRCm39)	missense	possibly damaging	0.73
R0841:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R0893:Unc80	UTSW	1	66,560,645 (GRCm39)	missense	probably damaging	0.97
R0900:Unc80	UTSW	1	66,710,757 (GRCm39)	missense	probably benign	0.33
R0924:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0930:Unc80	UTSW	1	66,549,800 (GRCm39)	missense	possibly damaging	0.95
R0989:Unc80	UTSW	1	66,685,599 (GRCm39)	missense	possibly damaging	0.53
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1145:Unc80	UTSW	1	66,511,247 (GRCm39)	missense	probably damaging	1.00
R1224:Unc80	UTSW	1	66,511,139 (GRCm39)	missense	probably damaging	1.00
R1240:Unc80	UTSW	1	66,675,061 (GRCm39)	missense	possibly damaging	0.85
R1245:Unc80	UTSW	1	66,594,254 (GRCm39)	missense	possibly damaging	0.94
R1467:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1473:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1500:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1556:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R1562:Unc80	UTSW	1	66,677,116 (GRCm39)	missense	probably damaging	1.00
R1655:Unc80	UTSW	1	66,711,915 (GRCm39)	missense	possibly damaging	0.86
R1674:Unc80	UTSW	1	66,548,467 (GRCm39)	missense	probably damaging	1.00
R1680:Unc80	UTSW	1	66,542,828 (GRCm39)	nonsense	probably null
R1739:Unc80	UTSW	1	66,567,051 (GRCm39)	missense	probably damaging	0.97
R1756:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1783:Unc80	UTSW	1	66,722,432 (GRCm39)	missense	probably benign	0.01
R1834:Unc80	UTSW	1	66,678,407 (GRCm39)	missense	possibly damaging	0.53
R1854:Unc80	UTSW	1	66,670,573 (GRCm39)	missense	possibly damaging	0.93
R1871:Unc80	UTSW	1	66,549,876 (GRCm39)	missense	possibly damaging	0.77
R1878:Unc80	UTSW	1	66,548,561 (GRCm39)	missense	probably damaging	0.96
R1883:Unc80	UTSW	1	66,564,929 (GRCm39)	missense	possibly damaging	0.89
R1912:Unc80	UTSW	1	66,549,784 (GRCm39)	missense	probably damaging	1.00
R1990:Unc80	UTSW	1	66,731,708 (GRCm39)	missense	probably damaging	0.97
R2007:Unc80	UTSW	1	66,542,935 (GRCm39)	missense	probably damaging	1.00
R2035:Unc80	UTSW	1	66,645,752 (GRCm39)	missense	probably damaging	0.98
R2056:Unc80	UTSW	1	66,679,711 (GRCm39)	missense	possibly damaging	0.72
R2060:Unc80	UTSW	1	66,679,754 (GRCm39)	missense	possibly damaging	0.53
R2074:Unc80	UTSW	1	66,718,903 (GRCm39)	critical splice donor site	probably null
R2088:Unc80	UTSW	1	66,629,386 (GRCm39)	missense	possibly damaging	0.77
R2089:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2091:Unc80	UTSW	1	66,710,874 (GRCm39)	splice site	probably benign
R2139:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2169:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2175:Unc80	UTSW	1	66,716,514 (GRCm39)	missense	probably damaging	1.00
R2248:Unc80	UTSW	1	66,662,365 (GRCm39)	splice site	probably benign
R2255:Unc80	UTSW	1	66,657,417 (GRCm39)	missense	possibly damaging	0.53
R2308:Unc80	UTSW	1	66,688,156 (GRCm39)	missense	possibly damaging	0.53
R2484:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
R2507:Unc80	UTSW	1	66,651,266 (GRCm39)	missense	possibly damaging	0.53
R2512:Unc80	UTSW	1	66,710,767 (GRCm39)	missense	possibly damaging	0.70
R2878:Unc80	UTSW	1	66,710,735 (GRCm39)	critical splice acceptor site	probably benign
R3040:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3104:Unc80	UTSW	1	66,662,450 (GRCm39)	missense	probably benign	0.33
R3402:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3403:Unc80	UTSW	1	66,549,845 (GRCm39)	missense	probably damaging	0.97
R3413:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3426:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3427:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3428:Unc80	UTSW	1	66,678,464 (GRCm39)	missense	probably benign	0.33
R3904:Unc80	UTSW	1	66,678,455 (GRCm39)	nonsense	probably null
R3916:Unc80	UTSW	1	66,716,654 (GRCm39)	missense	probably benign	0.11
R3950:Unc80	UTSW	1	66,661,729 (GRCm39)	missense	possibly damaging	0.53
R4642:Unc80	UTSW	1	66,710,873 (GRCm39)	splice site	probably null
R4646:Unc80	UTSW	1	66,708,394 (GRCm39)	missense	probably benign	0.03
R4655:Unc80	UTSW	1	66,710,821 (GRCm39)	missense	probably benign	0.18
R4662:Unc80	UTSW	1	66,685,595 (GRCm39)	missense	probably benign	0.01
R4720:Unc80	UTSW	1	66,549,951 (GRCm39)	missense	possibly damaging	0.92
R4736:Unc80	UTSW	1	66,688,831 (GRCm39)	critical splice acceptor site	probably null
R4795:Unc80	UTSW	1	66,567,100 (GRCm39)	missense	probably damaging	0.97
R4888:Unc80	UTSW	1	66,683,606 (GRCm39)	missense	probably damaging	0.98
R4917:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4918:Unc80	UTSW	1	66,685,709 (GRCm39)	missense	possibly damaging	0.86
R4983:Unc80	UTSW	1	66,713,891 (GRCm39)	splice site	probably null
R5051:Unc80	UTSW	1	66,548,636 (GRCm39)	missense	probably damaging	0.96
R5111:Unc80	UTSW	1	66,567,154 (GRCm39)	missense	possibly damaging	0.66
R5122:Unc80	UTSW	1	66,718,749 (GRCm39)	missense	possibly damaging	0.53
R5260:Unc80	UTSW	1	66,685,746 (GRCm39)	missense	possibly damaging	0.53
R5351:Unc80	UTSW	1	66,645,672 (GRCm39)	missense	possibly damaging	0.73
R5387:Unc80	UTSW	1	66,569,180 (GRCm39)	missense	possibly damaging	0.77
R5437:Unc80	UTSW	1	66,693,737 (GRCm39)	missense	possibly damaging	0.96
R5525:Unc80	UTSW	1	66,645,773 (GRCm39)	missense	possibly damaging	0.72
R5621:Unc80	UTSW	1	66,677,202 (GRCm39)	missense	possibly damaging	0.53
R5690:Unc80	UTSW	1	66,679,731 (GRCm39)	missense	probably benign	0.08
R5762:Unc80	UTSW	1	66,732,955 (GRCm39)	missense	possibly damaging	0.82
R5956:Unc80	UTSW	1	66,567,123 (GRCm39)	missense	probably damaging	0.97
R6005:Unc80	UTSW	1	66,666,416 (GRCm39)	missense	possibly damaging	0.53
R6025:Unc80	UTSW	1	66,734,727 (GRCm39)	missense	possibly damaging	0.90
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6033:Unc80	UTSW	1	66,512,419 (GRCm39)	missense	possibly damaging	0.92
R6117:Unc80	UTSW	1	66,714,226 (GRCm39)	missense	possibly damaging	0.72
R6156:Unc80	UTSW	1	66,651,409 (GRCm39)	missense	probably benign	0.01
R6157:Unc80	UTSW	1	66,693,188 (GRCm39)	nonsense	probably null
R6189:Unc80	UTSW	1	66,716,630 (GRCm39)	missense	probably benign	0.33
R6291:Unc80	UTSW	1	66,560,756 (GRCm39)	missense	possibly damaging	0.82
R6367:Unc80	UTSW	1	66,711,925 (GRCm39)	missense	probably benign	0.33
R6598:Unc80	UTSW	1	66,507,699 (GRCm39)	critical splice donor site	probably null
R6724:Unc80	UTSW	1	66,722,350 (GRCm39)	missense	possibly damaging	0.90
R6763:Unc80	UTSW	1	66,560,636 (GRCm39)	missense	probably benign	0.00
R6773:Unc80	UTSW	1	66,690,702 (GRCm39)	missense	probably benign	0.33
R6883:Unc80	UTSW	1	66,685,563 (GRCm39)	missense	probably benign	0.33
R6951:Unc80	UTSW	1	66,687,670 (GRCm39)	missense	possibly damaging	0.53
R6965:Unc80	UTSW	1	66,685,725 (GRCm39)	missense	probably benign	0.33
R6993:Unc80	UTSW	1	66,588,952 (GRCm39)	missense	possibly damaging	0.60
R7041:Unc80	UTSW	1	66,542,752 (GRCm39)	missense	probably benign	0.00
R7050:Unc80	UTSW	1	66,590,067 (GRCm39)	splice site	probably null
R7067:Unc80	UTSW	1	66,685,731 (GRCm39)	missense	possibly damaging	0.86
R7080:Unc80	UTSW	1	66,685,680 (GRCm39)	missense	possibly damaging	0.53
R7193:Unc80	UTSW	1	66,588,943 (GRCm39)	missense	possibly damaging	0.60
R7197:Unc80	UTSW	1	66,560,725 (GRCm39)	nonsense	probably null
R7278:Unc80	UTSW	1	66,591,368 (GRCm39)	missense	possibly damaging	0.82
R7290:Unc80	UTSW	1	66,640,356 (GRCm39)	missense	probably damaging	0.97
R7391:Unc80	UTSW	1	66,734,687 (GRCm39)	missense	probably benign	0.18
R7401:Unc80	UTSW	1	66,685,574 (GRCm39)	missense	possibly damaging	0.96
R7470:Unc80	UTSW	1	66,661,621 (GRCm39)	missense	probably benign	0.02
R7573:Unc80	UTSW	1	66,560,696 (GRCm39)	missense	probably damaging	1.00
R7637:Unc80	UTSW	1	66,711,843 (GRCm39)	missense	possibly damaging	0.86
R7697:Unc80	UTSW	1	66,677,104 (GRCm39)	missense	possibly damaging	0.93
R7746:Unc80	UTSW	1	66,716,544 (GRCm39)	missense	probably benign	0.33
R7768:Unc80	UTSW	1	66,549,754 (GRCm39)	missense	possibly damaging	0.56
R7796:Unc80	UTSW	1	66,542,873 (GRCm39)	missense	probably benign
R7855:Unc80	UTSW	1	66,522,508 (GRCm39)	missense	possibly damaging	0.78
R7878:Unc80	UTSW	1	66,640,300 (GRCm39)	missense	possibly damaging	0.88
R7879:Unc80	UTSW	1	66,549,866 (GRCm39)	missense	probably benign	0.00
R8024:Unc80	UTSW	1	66,645,803 (GRCm39)	missense	possibly damaging	0.86
R8026:Unc80	UTSW	1	66,522,463 (GRCm39)	missense	possibly damaging	0.92
R8115:Unc80	UTSW	1	66,688,072 (GRCm39)	missense	probably benign	0.00
R8135:Unc80	UTSW	1	66,548,446 (GRCm39)	missense	possibly damaging	0.49
R8170:Unc80	UTSW	1	66,690,692 (GRCm39)	missense	probably benign	0.33
R8239:Unc80	UTSW	1	66,693,178 (GRCm39)	missense	probably benign
R8249:Unc80	UTSW	1	66,658,650 (GRCm39)	missense	probably benign	0.01
R8275:Unc80	UTSW	1	66,679,773 (GRCm39)	nonsense	probably null
R8288:Unc80	UTSW	1	66,512,509 (GRCm39)	missense	probably benign	0.07
R8341:Unc80	UTSW	1	66,688,192 (GRCm39)	missense	possibly damaging	0.73
R8356:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8433:Unc80	UTSW	1	66,677,187 (GRCm39)	nonsense	probably null
R8456:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8464:Unc80	UTSW	1	66,512,423 (GRCm39)	missense	probably damaging	1.00
R8483:Unc80	UTSW	1	66,732,869 (GRCm39)	missense	possibly damaging	0.83
R8509:Unc80	UTSW	1	66,680,788 (GRCm39)	missense	possibly damaging	0.85
R8686:Unc80	UTSW	1	66,651,427 (GRCm39)	missense	possibly damaging	0.53
R8701:Unc80	UTSW	1	66,677,191 (GRCm39)	missense	possibly damaging	0.85
R8729:Unc80	UTSW	1	66,647,649 (GRCm39)	missense	probably benign	0.01
R8755:Unc80	UTSW	1	66,651,290 (GRCm39)	missense	possibly damaging	0.53
R8771:Unc80	UTSW	1	66,685,554 (GRCm39)	missense	possibly damaging	0.85
R8866:Unc80	UTSW	1	66,629,388 (GRCm39)	missense	probably benign	0.05
R8877:Unc80	UTSW	1	66,567,144 (GRCm39)	missense	possibly damaging	0.89
R8942:Unc80	UTSW	1	66,512,468 (GRCm39)	missense	possibly damaging	0.94
R8976:Unc80	UTSW	1	66,511,169 (GRCm39)	missense	possibly damaging	0.87
R9063:Unc80	UTSW	1	66,645,816 (GRCm39)	critical splice donor site	probably null
R9095:Unc80	UTSW	1	66,545,912 (GRCm39)	missense	probably damaging	1.00
R9125:Unc80	UTSW	1	66,718,740 (GRCm39)	missense	probably benign	0.18
R9130:Unc80	UTSW	1	66,677,244 (GRCm39)	missense	possibly damaging	0.85
R9165:Unc80	UTSW	1	66,589,000 (GRCm39)	missense	probably null	0.95
R9220:Unc80	UTSW	1	66,546,534 (GRCm39)	missense	probably damaging	1.00
R9262:Unc80	UTSW	1	66,594,411 (GRCm39)	intron	probably benign
R9334:Unc80	UTSW	1	66,688,919 (GRCm39)	missense	possibly damaging	0.73
R9374:Unc80	UTSW	1	66,629,460 (GRCm39)	missense	possibly damaging	0.95
R9387:Unc80	UTSW	1	66,589,097 (GRCm39)	critical splice donor site	probably null
R9415:Unc80	UTSW	1	66,550,064 (GRCm39)	missense
R9427:Unc80	UTSW	1	66,594,158 (GRCm39)	missense	probably damaging	1.00
R9436:Unc80	UTSW	1	66,732,964 (GRCm39)	critical splice donor site	probably null
R9454:Unc80	UTSW	1	66,734,749 (GRCm39)	missense	possibly damaging	0.53
R9522:Unc80	UTSW	1	66,677,221 (GRCm39)	missense	possibly damaging	0.73
R9539:Unc80	UTSW	1	66,609,163 (GRCm39)	critical splice donor site	probably null
R9552:Unc80	UTSW	1	66,717,282 (GRCm39)	missense	possibly damaging	0.85
R9667:Unc80	UTSW	1	66,651,287 (GRCm39)	missense	possibly damaging	0.86
R9720:Unc80	UTSW	1	66,683,485 (GRCm39)	missense	possibly damaging	0.53
R9749:Unc80	UTSW	1	66,544,179 (GRCm39)	missense	probably damaging	0.99
R9789:Unc80	UTSW	1	66,651,371 (GRCm39)	missense	possibly damaging	0.53
X0019:Unc80	UTSW	1	66,687,541 (GRCm39)	missense	probably benign	0.33
X0021:Unc80	UTSW	1	66,548,425 (GRCm39)	critical splice acceptor site	probably null
X0024:Unc80	UTSW	1	66,530,205 (GRCm39)	missense	probably benign	0.21
X0062:Unc80	UTSW	1	66,662,418 (GRCm39)	missense	probably benign	0.02
X0066:Unc80	UTSW	1	66,569,916 (GRCm39)	missense	possibly damaging	0.77
Y4335:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4336:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Y4338:Unc80	UTSW	1	66,560,740 (GRCm39)	missense	possibly damaging	0.46
Z1088:Unc80	UTSW	1	66,685,610 (GRCm39)	missense	possibly damaging	0.85
Z1176:Unc80	UTSW	1	66,733,568 (GRCm39)	missense	probably benign
Z1177:Unc80	UTSW	1	66,734,498 (GRCm39)	missense	probably benign	0.03
Z1177:Unc80	UTSW	1	66,685,557 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CCTCAGACAATTAAAATGCCTGAG -3'
(R):5'- GGAGATTGCTCATCAGAATGTTAC -3'

Sequencing Primer
(F):5'- AAGCAGAGTTCTGTTCCCTTCAGATG -3'
(R):5'- TCAGAATGTTACAGAAAGATGTGCC -3'

Posted On

2019-11-12