Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Unc13b'

530880

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B

Synonyms

Munc13-2, Unc13h2

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43239331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1038 (R1038C)

Ref Sequence

ENSEMBL: ENSMUSP00000146589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079978] [ENSMUST00000107952] [ENSMUST00000107953] [ENSMUST00000163653] [ENSMUST00000207569] [ENSMUST00000207708]

AlphaFold

Q9Z1N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000079978
AA Change: R665C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: R665C

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	179	193	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	322	333	N/A	INTRINSIC
C1	478	527	4.21e-18	SMART
C2	601	708	2.07e-22	SMART
DUF1041	917	1021	2.02e-53	SMART
Pfam:Membr_traf_MHD	1262	1404	4.8e-60	PFAM
C2	1438	1544	7.56e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107952
AA Change: R677C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: R677C

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	191	205	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
C1	490	539	4.21e-18	SMART
C2	613	720	2.07e-22	SMART
DUF1041	929	1033	2.02e-53	SMART
Pfam:Membr_traf_MHD	1274	1416	4.8e-60	PFAM
C2	1450	1556	7.56e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107953
AA Change: R665C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: R665C

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	179	193	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	322	333	N/A	INTRINSIC
C1	478	527	4.21e-18	SMART
C2	601	708	2.07e-22	SMART
DUF1041	917	1021	2.02e-53	SMART
Pfam:Membr_traf_MHD	1263	1403	2.3e-56	PFAM
C2	1457	1563	7.56e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149945

Predicted Effect

probably damaging
Transcript: ENSMUST00000163653
AA Change: R677C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: R677C

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	191	205	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
C1	490	539	4.21e-18	SMART
C2	613	720	2.07e-22	SMART
DUF1041	929	1032	4.64e-53	SMART
Pfam:Membr_traf_MHD	1273	1415	4.8e-60	PFAM
C2	1449	1555	7.56e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168032

SMART Domains

Protein: ENSMUSP00000132622
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C1	147	196	4.21e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207569
AA Change: R3465C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207708
AA Change: R1038C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably damaging	Het

Other mutations in Unc13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Unc13b	APN	4	43,240,285 (GRCm39)	missense	probably damaging	1.00
IGL00832:Unc13b	APN	4	43,258,921 (GRCm39)	missense	probably damaging	1.00
IGL01111:Unc13b	APN	4	43,096,927 (GRCm39)	missense	possibly damaging	0.76
IGL01115:Unc13b	APN	4	43,258,492 (GRCm39)	missense	probably damaging	1.00
IGL01137:Unc13b	APN	4	43,091,291 (GRCm39)	missense	probably damaging	1.00
IGL01637:Unc13b	APN	4	43,241,066 (GRCm39)	missense	probably damaging	1.00
IGL01789:Unc13b	APN	4	43,239,462 (GRCm39)	missense	probably damaging	1.00
IGL01792:Unc13b	APN	4	43,250,218 (GRCm39)	missense	probably damaging	0.99
IGL01877:Unc13b	APN	4	43,249,583 (GRCm39)	critical splice donor site	probably null
IGL01924:Unc13b	APN	4	43,239,385 (GRCm39)	nonsense	probably null
IGL02087:Unc13b	APN	4	43,091,270 (GRCm39)	missense	probably null	1.00
IGL02197:Unc13b	APN	4	43,165,828 (GRCm39)	missense	probably damaging	0.99
IGL02504:Unc13b	APN	4	43,263,031 (GRCm39)	missense	probably damaging	1.00
IGL02659:Unc13b	APN	4	43,235,332 (GRCm39)	missense	probably damaging	1.00
IGL03031:Unc13b	APN	4	43,235,368 (GRCm39)	missense	probably damaging	1.00
IGL03036:Unc13b	APN	4	43,235,249 (GRCm39)	missense	probably damaging	1.00
IGL03209:Unc13b	APN	4	43,239,351 (GRCm39)	missense	probably damaging	0.99
IGL03352:Unc13b	APN	4	43,237,110 (GRCm39)	missense	possibly damaging	0.90
BB006:Unc13b	UTSW	4	43,174,399 (GRCm39)	missense	unknown
BB016:Unc13b	UTSW	4	43,174,399 (GRCm39)	missense	unknown
G1Funyon:Unc13b	UTSW	4	43,263,568 (GRCm39)	missense	probably benign
P0028:Unc13b	UTSW	4	43,256,225 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Unc13b	UTSW	4	43,091,298 (GRCm39)	missense	probably benign	0.03
R0019:Unc13b	UTSW	4	43,096,990 (GRCm39)	missense	possibly damaging	0.58
R0019:Unc13b	UTSW	4	43,096,990 (GRCm39)	missense	possibly damaging	0.58
R0335:Unc13b	UTSW	4	43,236,983 (GRCm39)	missense	possibly damaging	0.95
R0504:Unc13b	UTSW	4	43,263,559 (GRCm39)	missense	probably damaging	0.99
R0631:Unc13b	UTSW	4	43,182,849 (GRCm39)	missense	possibly damaging	0.47
R0748:Unc13b	UTSW	4	43,241,164 (GRCm39)	splice site	probably benign
R1275:Unc13b	UTSW	4	43,235,366 (GRCm39)	missense	probably damaging	1.00
R1293:Unc13b	UTSW	4	43,235,190 (GRCm39)	missense	probably damaging	1.00
R1434:Unc13b	UTSW	4	43,239,385 (GRCm39)	nonsense	probably null
R1552:Unc13b	UTSW	4	43,237,144 (GRCm39)	missense	probably damaging	0.99
R1591:Unc13b	UTSW	4	43,244,747 (GRCm39)	missense	probably damaging	1.00
R1628:Unc13b	UTSW	4	43,263,371 (GRCm39)	missense	probably damaging	1.00
R1740:Unc13b	UTSW	4	43,240,285 (GRCm39)	missense	probably damaging	1.00
R1839:Unc13b	UTSW	4	43,258,308 (GRCm39)	splice site	probably benign
R2045:Unc13b	UTSW	4	43,091,266 (GRCm39)	missense	probably damaging	1.00
R2191:Unc13b	UTSW	4	43,245,566 (GRCm39)	nonsense	probably null
R2259:Unc13b	UTSW	4	43,182,780 (GRCm39)	missense	possibly damaging	0.87
R2307:Unc13b	UTSW	4	43,239,854 (GRCm39)	missense	probably damaging	0.98
R2317:Unc13b	UTSW	4	43,245,514 (GRCm39)	missense	probably damaging	1.00
R2402:Unc13b	UTSW	4	43,095,843 (GRCm39)	missense	probably benign
R2847:Unc13b	UTSW	4	43,180,404 (GRCm39)	missense	probably benign	0.04
R3414:Unc13b	UTSW	4	43,234,658 (GRCm39)	splice site	probably benign
R3436:Unc13b	UTSW	4	43,097,028 (GRCm39)	splice site	probably benign
R3955:Unc13b	UTSW	4	43,256,834 (GRCm39)	missense	probably damaging	1.00
R3957:Unc13b	UTSW	4	43,256,834 (GRCm39)	missense	probably damaging	1.00
R4015:Unc13b	UTSW	4	43,237,801 (GRCm39)	missense	probably damaging	1.00
R4650:Unc13b	UTSW	4	43,261,035 (GRCm39)	missense	probably damaging	0.97
R4836:Unc13b	UTSW	4	43,237,137 (GRCm39)	missense	probably damaging	1.00
R5041:Unc13b	UTSW	4	43,237,836 (GRCm39)	missense	probably benign	0.41
R5413:Unc13b	UTSW	4	43,257,936 (GRCm39)	critical splice donor site	probably null
R5994:Unc13b	UTSW	4	43,172,596 (GRCm39)	intron	probably benign
R6015:Unc13b	UTSW	4	43,177,995 (GRCm39)	nonsense	probably null
R6090:Unc13b	UTSW	4	43,239,306 (GRCm39)	missense	probably damaging	1.00
R6242:Unc13b	UTSW	4	43,165,800 (GRCm39)	missense	possibly damaging	0.92
R6246:Unc13b	UTSW	4	43,216,246 (GRCm39)	missense	probably benign	0.18
R6427:Unc13b	UTSW	4	43,176,966 (GRCm39)	unclassified	probably benign
R6660:Unc13b	UTSW	4	43,177,412 (GRCm39)	unclassified	probably benign
R6670:Unc13b	UTSW	4	43,255,562 (GRCm39)	missense	probably damaging	0.99
R6858:Unc13b	UTSW	4	43,165,828 (GRCm39)	missense	possibly damaging	0.85
R6886:Unc13b	UTSW	4	43,170,156 (GRCm39)	intron	probably benign
R6969:Unc13b	UTSW	4	43,263,538 (GRCm39)	missense	possibly damaging	0.94
R6994:Unc13b	UTSW	4	43,173,203 (GRCm39)	intron	probably benign
R6994:Unc13b	UTSW	4	43,171,403 (GRCm39)	intron	probably benign
R7080:Unc13b	UTSW	4	43,171,926 (GRCm39)	missense	unknown
R7117:Unc13b	UTSW	4	43,216,544 (GRCm39)	missense	probably benign	0.33
R7132:Unc13b	UTSW	4	43,215,757 (GRCm39)	missense	probably benign	0.17
R7181:Unc13b	UTSW	4	43,258,893 (GRCm39)	missense	probably damaging	0.99
R7192:Unc13b	UTSW	4	43,258,519 (GRCm39)	missense	probably damaging	1.00
R7246:Unc13b	UTSW	4	43,172,910 (GRCm39)	missense	unknown
R7342:Unc13b	UTSW	4	43,258,703 (GRCm39)	missense	probably damaging	0.99
R7345:Unc13b	UTSW	4	43,173,966 (GRCm39)	missense	unknown
R7355:Unc13b	UTSW	4	43,237,754 (GRCm39)	missense	probably damaging	1.00
R7391:Unc13b	UTSW	4	43,216,459 (GRCm39)	missense	probably benign	0.03
R7419:Unc13b	UTSW	4	43,174,023 (GRCm39)	missense	unknown
R7424:Unc13b	UTSW	4	43,172,235 (GRCm39)	missense	unknown
R7517:Unc13b	UTSW	4	43,215,765 (GRCm39)	missense	probably benign
R7532:Unc13b	UTSW	4	43,249,565 (GRCm39)	missense	probably benign	0.44
R7564:Unc13b	UTSW	4	43,091,258 (GRCm39)	missense	probably damaging	1.00
R7598:Unc13b	UTSW	4	43,263,569 (GRCm39)	missense	probably benign	0.20
R7604:Unc13b	UTSW	4	43,256,776 (GRCm39)	missense	possibly damaging	0.95
R7604:Unc13b	UTSW	4	43,170,102 (GRCm39)	missense	unknown
R7643:Unc13b	UTSW	4	43,216,333 (GRCm39)	missense	probably benign
R7718:Unc13b	UTSW	4	43,173,854 (GRCm39)	missense	unknown
R7735:Unc13b	UTSW	4	43,165,791 (GRCm39)	missense	probably damaging	1.00
R7756:Unc13b	UTSW	4	43,177,312 (GRCm39)	small deletion	probably benign
R7757:Unc13b	UTSW	4	43,177,341 (GRCm39)	small insertion	probably benign
R7757:Unc13b	UTSW	4	43,177,330 (GRCm39)	small insertion	probably benign
R7757:Unc13b	UTSW	4	43,177,312 (GRCm39)	small deletion	probably benign
R7758:Unc13b	UTSW	4	43,177,344 (GRCm39)	small insertion	probably benign
R7758:Unc13b	UTSW	4	43,177,312 (GRCm39)	small insertion	probably benign
R7781:Unc13b	UTSW	4	43,259,546 (GRCm39)	missense	possibly damaging	0.87
R7793:Unc13b	UTSW	4	43,172,737 (GRCm39)	missense	unknown
R7858:Unc13b	UTSW	4	43,176,285 (GRCm39)	missense	unknown
R7867:Unc13b	UTSW	4	43,232,573 (GRCm39)	nonsense	probably null
R7897:Unc13b	UTSW	4	43,171,860 (GRCm39)	missense	unknown
R7904:Unc13b	UTSW	4	43,217,075 (GRCm39)	missense	probably benign
R7929:Unc13b	UTSW	4	43,174,399 (GRCm39)	missense	unknown
R7984:Unc13b	UTSW	4	43,173,973 (GRCm39)	missense	unknown
R8069:Unc13b	UTSW	4	43,177,597 (GRCm39)	missense	unknown
R8101:Unc13b	UTSW	4	43,239,918 (GRCm39)	missense	probably benign	0.08
R8246:Unc13b	UTSW	4	43,175,954 (GRCm39)	missense	unknown
R8289:Unc13b	UTSW	4	43,172,524 (GRCm39)	nonsense	probably null
R8301:Unc13b	UTSW	4	43,263,568 (GRCm39)	missense	probably benign
R8397:Unc13b	UTSW	4	43,217,290 (GRCm39)	missense	probably benign	0.12
R8421:Unc13b	UTSW	4	43,178,304 (GRCm39)	missense	unknown
R8738:Unc13b	UTSW	4	43,177,564 (GRCm39)	missense	unknown
R8746:Unc13b	UTSW	4	43,176,120 (GRCm39)	missense	unknown
R8766:Unc13b	UTSW	4	43,174,722 (GRCm39)	missense	unknown
R8825:Unc13b	UTSW	4	43,237,683 (GRCm39)	splice site	probably benign
R8834:Unc13b	UTSW	4	43,175,954 (GRCm39)	missense	unknown
R8862:Unc13b	UTSW	4	43,235,207 (GRCm39)	missense	probably damaging	1.00
R8864:Unc13b	UTSW	4	43,174,724 (GRCm39)	missense	unknown
R8889:Unc13b	UTSW	4	43,176,484 (GRCm39)	missense	unknown
R8892:Unc13b	UTSW	4	43,176,484 (GRCm39)	missense	unknown
R8904:Unc13b	UTSW	4	43,178,531 (GRCm39)	intron	probably benign
R9089:Unc13b	UTSW	4	43,095,847 (GRCm39)	missense	probably damaging	1.00
R9144:Unc13b	UTSW	4	43,173,649 (GRCm39)	missense	unknown
R9149:Unc13b	UTSW	4	43,176,186 (GRCm39)	missense	unknown
R9173:Unc13b	UTSW	4	43,177,421 (GRCm39)	missense	unknown
R9200:Unc13b	UTSW	4	43,257,352 (GRCm39)	missense	possibly damaging	0.50
R9232:Unc13b	UTSW	4	43,240,321 (GRCm39)	missense	probably benign	0.03
R9269:Unc13b	UTSW	4	43,171,955 (GRCm39)	missense	unknown
R9320:Unc13b	UTSW	4	43,171,044 (GRCm39)	missense	unknown
R9335:Unc13b	UTSW	4	43,255,551 (GRCm39)	missense	probably damaging	0.99
R9335:Unc13b	UTSW	4	43,216,123 (GRCm39)	missense	possibly damaging	0.86
R9352:Unc13b	UTSW	4	43,177,313 (GRCm39)	nonsense	probably null
R9352:Unc13b	UTSW	4	43,177,312 (GRCm39)	small insertion	probably benign
R9378:Unc13b	UTSW	4	43,173,282 (GRCm39)	missense	unknown
R9382:Unc13b	UTSW	4	43,172,512 (GRCm39)	missense	unknown
R9569:Unc13b	UTSW	4	43,177,312 (GRCm39)	small deletion	probably benign
R9622:Unc13b	UTSW	4	43,172,513 (GRCm39)	missense
R9687:Unc13b	UTSW	4	43,174,920 (GRCm39)	missense	unknown
R9704:Unc13b	UTSW	4	43,237,102 (GRCm39)	missense	probably benign	0.31
R9721:Unc13b	UTSW	4	43,101,869 (GRCm39)	missense	probably benign
R9753:Unc13b	UTSW	4	43,182,842 (GRCm39)	nonsense	probably null
RF016:Unc13b	UTSW	4	43,177,350 (GRCm39)	small insertion	probably benign
RF016:Unc13b	UTSW	4	43,177,347 (GRCm39)	small insertion	probably benign
RF041:Unc13b	UTSW	4	43,177,338 (GRCm39)	small insertion	probably benign
RF056:Unc13b	UTSW	4	43,177,359 (GRCm39)	small insertion	probably benign
Z1176:Unc13b	UTSW	4	43,177,764 (GRCm39)	missense	unknown
Z1176:Unc13b	UTSW	4	43,177,191 (GRCm39)	missense	unknown
Z1176:Unc13b	UTSW	4	43,171,419 (GRCm39)	missense	unknown
Z1176:Unc13b	UTSW	4	43,261,043 (GRCm39)	missense	probably benign	0.11
Z1177:Unc13b	UTSW	4	43,173,669 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGCATGAGAAGCCAGAATGTAC -3'
(R):5'- TCCGGATGGTCTCCAATCACAG -3'

Sequencing Primer
(F):5'- TGAGAAGCCAGAATGTACCATAAC -3'
(R):5'- GGATGGTCTCCAATCACAGTAACAC -3'

Posted On

2018-08-01