Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Unc80'

617681

Institutional Source

Beutler Lab

Gene Symbol

Unc80

Ensembl Gene

ENSMUSG00000055567

Gene Name

unc-80, NALCN activator

Synonyms

C030018G13Rik, C230061B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66468367-66699148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66483304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 222 (R222G)

Ref Sequence

ENSEMBL: ENSMUSP00000053692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061620] [ENSMUST00000114008] [ENSMUST00000212557]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061620
AA Change: R222G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053692
Gene: ENSMUSG00000055567
AA Change: R222G

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

possibly damaging
Transcript: ENSMUST00000114008
AA Change: R222G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212557
AA Change: R222G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,406,725	V513A	probably damaging	Het
Acsf2	C	T	11: 94,562,888	V416M	probably damaging	Het
Adrm1	G	A	2: 180,175,209	A225T	unknown	Het
Aldh9a1	T	C	1: 167,352,667		probably null	Het
Apbb2	T	C	5: 66,451,644	D220G	probably benign	Het
B230118H07Rik	A	T	2: 101,570,644		probably benign	Het
Bace2	T	C	16: 97,436,852	V501A	probably benign	Het
Camsap1	T	C	2: 25,938,202	N1170S	probably benign	Het
Casr	A	G	16: 36,495,617	V697A	probably damaging	Het
Clcn1	T	C	6: 42,307,661		probably null	Het
Cobl	T	C	11: 12,253,459	K1081R	probably benign	Het
Ctr9	T	A	7: 111,033,892	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,873,030	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,311,814	G30S	possibly damaging	Het
Eif1	T	C	11: 100,320,448	S23P	possibly damaging	Het
Eml6	A	C	11: 29,749,973	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,474,275	I139T	probably benign	Het
Fstl4	A	G	11: 53,068,669	E179G	probably damaging	Het
Fuom	T	C	7: 140,100,154	T95A		Het
Gigyf1	C	T	5: 137,525,478	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,089,746	S66C	probably damaging	Het
Helz2	G	A	2: 181,240,205	T265I	probably benign	Het
Hs6st3	G	T	14: 119,869,556	V459F	probably damaging	Het
Ido2	A	G	8: 24,535,140		probably null	Het
Idua	A	G	5: 108,670,249	I96V	probably benign	Het
Inpp5j	A	G	11: 3,495,171	S494P		Het
Krt19	A	G	11: 100,141,383	V285A	probably damaging	Het
Krt71	T	G	15: 101,738,382	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,084,949	R70C	probably damaging	Het
Masp1	T	C	16: 23,484,406	Y324C	probably damaging	Het
Mfap2	A	G	4: 141,013,803	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,595,084		probably null	Het
Mroh7	G	A	4: 106,721,437	P15S	probably benign	Het
Muc5b	T	A	7: 141,863,636	C3440S	probably benign	Het
Naip5	C	A	13: 100,245,898	S101I	probably damaging	Het
Neb	A	T	2: 52,223,048	Y1066N		Het
Nop56	T	A	2: 130,277,268	C38S	probably benign	Het
Nup214	T	A	2: 32,033,350	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 114,902,268		probably benign	Het
Olfr1242	A	G	2: 89,493,788	F175L	probably damaging	Het
Olfr192	T	C	16: 59,098,368	H208R	unknown	Het
Olfr48	T	C	2: 89,844,929	N15D	probably benign	Het
Olfr66	A	G	7: 103,881,697	V182A	possibly damaging	Het
Olfr68	T	A	7: 103,778,340	I2F	probably benign	Het
Olfr967	T	C	9: 39,750,796	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,576,567	V155I	probably benign	Het
Patz1	A	T	11: 3,307,658	M96L	probably benign	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Ptprr	A	G	10: 116,048,170	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,934,712		probably null	Het
Raet1e	A	C	10: 22,181,299	D174A	probably damaging	Het
Rhobtb2	T	G	14: 69,796,765	D337A	probably benign	Het
Sbf2	T	C	7: 110,335,387	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,411,567	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,787,289	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,739,364	R625H	probably benign	Het
Tbxas1	C	T	6: 39,027,896	T359I	probably benign	Het
Trim9	T	A	12: 70,290,387	S309C	probably benign	Het
Ttn	G	A	2: 76,829,139	P12191S	unknown	Het
Vmn1r202	A	T	13: 22,502,144	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,717	N251K	probably benign	Het
Vmn2r67	A	T	7: 85,136,716	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,783	F255S	probably benign	Het
Zfp532	T	G	18: 65,625,156	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,617,895	T601A	probably benign	Het
Zfp853	G	T	5: 143,288,525	Q462K	unknown	Het

Other mutations in Unc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Unc80	APN	1	66654395	missense	possibly damaging	0.53
IGL00340:Unc80	APN	1	66606459	missense	possibly damaging	0.73
IGL00783:Unc80	APN	1	66608437	missense	probably benign	0.37
IGL00784:Unc80	APN	1	66608437	missense	probably benign	0.37
IGL00935:Unc80	APN	1	66627266	missense	possibly damaging	0.53
IGL01094:Unc80	APN	1	66695433	missense	possibly damaging	0.90
IGL01466:Unc80	APN	1	66622486	missense	probably benign	0.33
IGL01577:Unc80	APN	1	66529968	splice site	probably null
IGL01626:Unc80	APN	1	66551054	critical splice donor site	probably null
IGL01640:Unc80	APN	1	66679585	missense	probably benign	0.33
IGL01775:Unc80	APN	1	66601056	missense	possibly damaging	0.94
IGL01960:Unc80	APN	1	66608500	splice site	probably benign
IGL01991:Unc80	APN	1	66469509	nonsense	probably null
IGL02022:Unc80	APN	1	66626516	missense	possibly damaging	0.53
IGL02073:Unc80	APN	1	66612227	missense	possibly damaging	0.85
IGL02077:Unc80	APN	1	66525716	missense	possibly damaging	0.77
IGL02197:Unc80	APN	1	66530065	missense	probably benign	0.39
IGL02198:Unc80	APN	1	66529986	missense	possibly damaging	0.88
IGL02228:Unc80	APN	1	66608428	missense	possibly damaging	0.72
IGL02327:Unc80	APN	1	66641673	missense	probably benign	0.33
IGL02447:Unc80	APN	1	66503544	missense	possibly damaging	0.86
IGL02489:Unc80	APN	1	66525701	missense	probably benign	0.07
IGL02546:Unc80	APN	1	66554953	missense	possibly damaging	0.83
IGL02629:Unc80	APN	1	66483317	missense	possibly damaging	0.46
IGL02631:Unc80	APN	1	66530063	missense	probably damaging	0.98
IGL02839:Unc80	APN	1	66671675	missense	possibly damaging	0.53
IGL02960:Unc80	APN	1	66678058	splice site	probably benign
IGL02974:Unc80	APN	1	66525658	missense	possibly damaging	0.95
IGL03060:Unc80	APN	1	66637010	missense	possibly damaging	0.96
IGL03062:Unc80	APN	1	66509489	missense	probably damaging	0.96
IGL03074:Unc80	APN	1	66671718	splice site	probably benign
IGL03086:Unc80	APN	1	66509474	missense	probably damaging	0.99
IGL03105:Unc80	APN	1	66472099	missense	probably damaging	0.96
IGL03107:Unc80	APN	1	66631454	missense	probably damaging	0.98
IGL03158:Unc80	APN	1	66641674	missense	probably benign	0.33
IGL03220:Unc80	APN	1	66504938	missense	probably damaging	0.99
IGL03271:Unc80	APN	1	66695603	unclassified	probably benign
IGL03332:Unc80	APN	1	66503631	missense	probably damaging	1.00
IGL03347:Unc80	APN	1	66695466	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66507391	missense	probably damaging	1.00
R0012:Unc80	UTSW	1	66507391	missense	probably damaging	1.00
R0026:Unc80	UTSW	1	66521584	missense	probably benign	0.27
R0055:Unc80	UTSW	1	66506623	splice site	probably benign
R0149:Unc80	UTSW	1	66521601	missense	possibly damaging	0.82
R0325:Unc80	UTSW	1	66510881	missense	probably damaging	1.00
R0329:Unc80	UTSW	1	66674087	missense	possibly damaging	0.96
R0330:Unc80	UTSW	1	66674087	missense	possibly damaging	0.96
R0355:Unc80	UTSW	1	66549856	missense	possibly damaging	0.77
R0412:Unc80	UTSW	1	66550937	splice site	probably benign
R0422:Unc80	UTSW	1	66483338	missense	probably damaging	1.00
R0477:Unc80	UTSW	1	66570001	missense	probably damaging	0.99
R0507:Unc80	UTSW	1	66527893	missense	possibly damaging	0.66
R0513:Unc80	UTSW	1	66622474	missense	possibly damaging	0.73
R0553:Unc80	UTSW	1	66506669	missense	probably damaging	0.97
R0626:Unc80	UTSW	1	66608442	missense	probably benign	0.01
R0655:Unc80	UTSW	1	66503781	missense	probably damaging	0.98
R0742:Unc80	UTSW	1	66527893	missense	possibly damaging	0.66
R0755:Unc80	UTSW	1	66504923	missense	probably damaging	1.00
R0782:Unc80	UTSW	1	66622581	missense	possibly damaging	0.53
R0837:Unc80	UTSW	1	66648944	missense	possibly damaging	0.73
R0841:Unc80	UTSW	1	66472088	missense	probably damaging	1.00
R0893:Unc80	UTSW	1	66521486	missense	probably damaging	0.97
R0900:Unc80	UTSW	1	66671598	missense	probably benign	0.33
R0924:Unc80	UTSW	1	66510641	missense	possibly damaging	0.95
R0930:Unc80	UTSW	1	66510641	missense	possibly damaging	0.95
R0989:Unc80	UTSW	1	66646440	missense	possibly damaging	0.53
R1145:Unc80	UTSW	1	66472088	missense	probably damaging	1.00
R1145:Unc80	UTSW	1	66472088	missense	probably damaging	1.00
R1224:Unc80	UTSW	1	66471980	missense	probably damaging	1.00
R1240:Unc80	UTSW	1	66635902	missense	possibly damaging	0.85
R1245:Unc80	UTSW	1	66555095	missense	possibly damaging	0.94
R1467:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R1473:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R1500:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R1556:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R1562:Unc80	UTSW	1	66637957	missense	probably damaging	1.00
R1655:Unc80	UTSW	1	66672756	missense	possibly damaging	0.86
R1674:Unc80	UTSW	1	66509308	missense	probably damaging	1.00
R1680:Unc80	UTSW	1	66503669	nonsense	probably null
R1739:Unc80	UTSW	1	66527892	missense	probably damaging	0.97
R1756:Unc80	UTSW	1	66639248	missense	possibly damaging	0.53
R1783:Unc80	UTSW	1	66683273	missense	probably benign	0.01
R1834:Unc80	UTSW	1	66639248	missense	possibly damaging	0.53
R1854:Unc80	UTSW	1	66631414	missense	possibly damaging	0.93
R1871:Unc80	UTSW	1	66510717	missense	possibly damaging	0.77
R1878:Unc80	UTSW	1	66509402	missense	probably damaging	0.96
R1883:Unc80	UTSW	1	66525770	missense	possibly damaging	0.89
R1912:Unc80	UTSW	1	66510625	missense	probably damaging	1.00
R1990:Unc80	UTSW	1	66692549	missense	probably damaging	0.97
R2007:Unc80	UTSW	1	66503776	missense	probably damaging	1.00
R2035:Unc80	UTSW	1	66606593	missense	probably damaging	0.98
R2056:Unc80	UTSW	1	66640552	missense	possibly damaging	0.72
R2060:Unc80	UTSW	1	66640595	missense	possibly damaging	0.53
R2074:Unc80	UTSW	1	66679744	critical splice donor site	probably null
R2088:Unc80	UTSW	1	66590227	missense	possibly damaging	0.77
R2089:Unc80	UTSW	1	66671715	splice site	probably benign
R2091:Unc80	UTSW	1	66671715	splice site	probably benign
R2139:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R2169:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R2175:Unc80	UTSW	1	66677355	missense	probably damaging	1.00
R2248:Unc80	UTSW	1	66623206	splice site	probably benign
R2255:Unc80	UTSW	1	66618258	missense	possibly damaging	0.53
R2308:Unc80	UTSW	1	66648997	missense	possibly damaging	0.53
R2484:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
R2507:Unc80	UTSW	1	66612107	missense	possibly damaging	0.53
R2512:Unc80	UTSW	1	66671608	missense	possibly damaging	0.70
R2878:Unc80	UTSW	1	66671576	critical splice acceptor site	probably benign
R3040:Unc80	UTSW	1	66639305	missense	probably benign	0.33
R3104:Unc80	UTSW	1	66623291	missense	probably benign	0.33
R3402:Unc80	UTSW	1	66510686	missense	probably damaging	0.97
R3403:Unc80	UTSW	1	66510686	missense	probably damaging	0.97
R3413:Unc80	UTSW	1	66639305	missense	probably benign	0.33
R3426:Unc80	UTSW	1	66639305	missense	probably benign	0.33
R3427:Unc80	UTSW	1	66639305	missense	probably benign	0.33
R3428:Unc80	UTSW	1	66639305	missense	probably benign	0.33
R3904:Unc80	UTSW	1	66639296	nonsense	probably null
R3916:Unc80	UTSW	1	66677495	missense	probably benign	0.11
R3950:Unc80	UTSW	1	66622570	missense	possibly damaging	0.53
R4642:Unc80	UTSW	1	66671714	splice site	probably null
R4646:Unc80	UTSW	1	66669235	missense	probably benign	0.03
R4655:Unc80	UTSW	1	66671662	missense	probably benign	0.18
R4662:Unc80	UTSW	1	66646436	missense	probably benign	0.01
R4720:Unc80	UTSW	1	66510792	missense	possibly damaging	0.92
R4736:Unc80	UTSW	1	66649672	critical splice acceptor site	probably null
R4795:Unc80	UTSW	1	66527941	missense	probably damaging	0.97
R4888:Unc80	UTSW	1	66644447	missense	probably damaging	0.98
R4917:Unc80	UTSW	1	66646550	missense	possibly damaging	0.86
R4918:Unc80	UTSW	1	66646550	missense	possibly damaging	0.86
R4983:Unc80	UTSW	1	66674732	splice site	probably null
R5051:Unc80	UTSW	1	66509477	missense	probably damaging	0.96
R5111:Unc80	UTSW	1	66527995	missense	possibly damaging	0.66
R5122:Unc80	UTSW	1	66679590	missense	possibly damaging	0.53
R5260:Unc80	UTSW	1	66646587	missense	possibly damaging	0.53
R5351:Unc80	UTSW	1	66606513	missense	possibly damaging	0.73
R5387:Unc80	UTSW	1	66530021	missense	possibly damaging	0.77
R5437:Unc80	UTSW	1	66654578	missense	possibly damaging	0.96
R5525:Unc80	UTSW	1	66606614	missense	possibly damaging	0.72
R5621:Unc80	UTSW	1	66638043	missense	possibly damaging	0.53
R5690:Unc80	UTSW	1	66640572	missense	probably benign	0.08
R5762:Unc80	UTSW	1	66693796	missense	possibly damaging	0.82
R5956:Unc80	UTSW	1	66527964	missense	probably damaging	0.97
R6005:Unc80	UTSW	1	66627257	missense	possibly damaging	0.53
R6025:Unc80	UTSW	1	66695568	missense	possibly damaging	0.90
R6033:Unc80	UTSW	1	66473260	missense	possibly damaging	0.92
R6033:Unc80	UTSW	1	66473260	missense	possibly damaging	0.92
R6117:Unc80	UTSW	1	66675067	missense	possibly damaging	0.72
R6156:Unc80	UTSW	1	66612250	missense	probably benign	0.01
R6157:Unc80	UTSW	1	66654029	nonsense	probably null
R6189:Unc80	UTSW	1	66677471	missense	probably benign	0.33
R6291:Unc80	UTSW	1	66521597	missense	possibly damaging	0.82
R6367:Unc80	UTSW	1	66672766	missense	probably benign	0.33
R6598:Unc80	UTSW	1	66468540	critical splice donor site	probably null
R6724:Unc80	UTSW	1	66683191	missense	possibly damaging	0.90
R6763:Unc80	UTSW	1	66521477	missense	probably benign	0.00
R6773:Unc80	UTSW	1	66651543	missense	probably benign	0.33
R6883:Unc80	UTSW	1	66646404	missense	probably benign	0.33
R6951:Unc80	UTSW	1	66648511	missense	possibly damaging	0.53
R6965:Unc80	UTSW	1	66646566	missense	probably benign	0.33
R6993:Unc80	UTSW	1	66549793	missense	possibly damaging	0.60
R7041:Unc80	UTSW	1	66503593	missense	probably benign	0.00
R7050:Unc80	UTSW	1	66550908	splice site	probably null
R7067:Unc80	UTSW	1	66646572	missense	possibly damaging	0.86
R7080:Unc80	UTSW	1	66646521	missense	possibly damaging	0.53
R7193:Unc80	UTSW	1	66549784	missense	possibly damaging	0.60
R7197:Unc80	UTSW	1	66521566	nonsense	probably null
R7278:Unc80	UTSW	1	66552209	missense	possibly damaging	0.82
R7290:Unc80	UTSW	1	66601197	missense	probably damaging	0.97
R7391:Unc80	UTSW	1	66695528	missense	probably benign	0.18
R7401:Unc80	UTSW	1	66646415	missense	possibly damaging	0.96
R7470:Unc80	UTSW	1	66622462	missense	probably benign	0.02
R7573:Unc80	UTSW	1	66521537	missense	probably damaging	1.00
R7637:Unc80	UTSW	1	66672684	missense	possibly damaging	0.86
R7678:Unc80	UTSW	1	66649722	missense	probably benign	0.33
R7697:Unc80	UTSW	1	66637945	missense	possibly damaging	0.93
R7746:Unc80	UTSW	1	66677385	missense	probably benign	0.33
R7768:Unc80	UTSW	1	66510595	missense	possibly damaging	0.56
R7796:Unc80	UTSW	1	66503714	missense	probably benign
R7855:Unc80	UTSW	1	66483349	missense	possibly damaging	0.78
R7878:Unc80	UTSW	1	66601141	missense	possibly damaging	0.88
R7879:Unc80	UTSW	1	66510707	missense	probably benign	0.00
R8024:Unc80	UTSW	1	66606644	missense	possibly damaging	0.86
R8115:Unc80	UTSW	1	66648913	missense	probably benign	0.00
R8135:Unc80	UTSW	1	66509287	missense	possibly damaging	0.49
R8170:Unc80	UTSW	1	66651533	missense	probably benign	0.33
R8239:Unc80	UTSW	1	66654019	missense	probably benign
R8249:Unc80	UTSW	1	66619491	missense	probably benign	0.01
R8275:Unc80	UTSW	1	66640614	nonsense	probably null
R8288:Unc80	UTSW	1	66473350	missense	probably benign	0.07
R8341:Unc80	UTSW	1	66649033	missense	possibly damaging	0.73
R8356:Unc80	UTSW	1	66641629	missense	possibly damaging	0.85
R8433:Unc80	UTSW	1	66638028	nonsense	probably null
R8456:Unc80	UTSW	1	66641629	missense	possibly damaging	0.85
R8464:Unc80	UTSW	1	66473264	missense	probably damaging	1.00
R8483:Unc80	UTSW	1	66693710	missense	possibly damaging	0.83
R8509:Unc80	UTSW	1	66641629	missense	possibly damaging	0.85
R8686:Unc80	UTSW	1	66612268	missense	possibly damaging	0.53
R8701:Unc80	UTSW	1	66638032	missense	possibly damaging	0.85
R8729:Unc80	UTSW	1	66608490	missense	probably benign	0.01
R8755:Unc80	UTSW	1	66612131	missense	possibly damaging	0.53
R8771:Unc80	UTSW	1	66646395	missense	possibly damaging	0.85
R8866:Unc80	UTSW	1	66590229	missense	probably benign	0.05
R8877:Unc80	UTSW	1	66527985	missense	possibly damaging	0.89
R8942:Unc80	UTSW	1	66473309	missense	possibly damaging	0.94
R8976:Unc80	UTSW	1	66472010	missense	possibly damaging	0.87
R9063:Unc80	UTSW	1	66606657	critical splice donor site	probably null
R9095:Unc80	UTSW	1	66506753	missense	probably damaging	1.00
R9125:Unc80	UTSW	1	66679581	missense	probably benign	0.18
R9130:Unc80	UTSW	1	66638085	missense	possibly damaging	0.85
R9165:Unc80	UTSW	1	66549841	missense	probably null	0.95
R9220:Unc80	UTSW	1	66507375	missense	probably damaging	1.00
R9262:Unc80	UTSW	1	66555252	intron	probably benign
R9334:Unc80	UTSW	1	66649760	missense	possibly damaging	0.73
R9374:Unc80	UTSW	1	66590301	missense	possibly damaging	0.95
R9387:Unc80	UTSW	1	66549938	critical splice donor site	probably null
R9415:Unc80	UTSW	1	66510905	missense
R9427:Unc80	UTSW	1	66554999	missense	probably damaging	1.00
R9436:Unc80	UTSW	1	66693805	critical splice donor site	probably null
R9454:Unc80	UTSW	1	66695590	missense	possibly damaging	0.53
R9522:Unc80	UTSW	1	66638062	missense	possibly damaging	0.73
R9539:Unc80	UTSW	1	66570004	critical splice donor site	probably null
R9552:Unc80	UTSW	1	66678123	missense	possibly damaging	0.85
R9667:Unc80	UTSW	1	66612128	missense	possibly damaging	0.86
R9720:Unc80	UTSW	1	66644326	missense	possibly damaging	0.53
R9749:Unc80	UTSW	1	66505020	missense	probably damaging	0.99
R9789:Unc80	UTSW	1	66612212	missense	possibly damaging	0.53
X0019:Unc80	UTSW	1	66648382	missense	probably benign	0.33
X0021:Unc80	UTSW	1	66509266	critical splice acceptor site	probably null
X0024:Unc80	UTSW	1	66491046	missense	probably benign	0.21
X0062:Unc80	UTSW	1	66623259	missense	probably benign	0.02
X0066:Unc80	UTSW	1	66530757	missense	possibly damaging	0.77
Y4335:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
Y4336:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
Y4338:Unc80	UTSW	1	66521581	missense	possibly damaging	0.46
Z1088:Unc80	UTSW	1	66646451	missense	possibly damaging	0.85
Z1176:Unc80	UTSW	1	66694409	missense	probably benign
Z1177:Unc80	UTSW	1	66646398	missense	possibly damaging	0.72
Z1177:Unc80	UTSW	1	66695339	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGACAGGATCATTGTTTGCCTAG -3'
(R):5'- GTGTCTCATGTTATCTGGGCCAC -3'

Sequencing Primer
(F):5'- GTTTGCCTAGAAACACTCATCGGAG -3'
(R):5'- TCCAGAGAGAACTGCTTC -3'

Posted On

2020-01-23