Mutagenetix > Incidental Mutation

Incidental Mutation 'R8397:Unc13b'

647642

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B

Synonyms

Munc13-2, Unc13h2

MMRRC Submission

067760-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43217290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 530 (I530V)

Ref Sequence

ENSEMBL: ENSMUSP00000146589 (fasta)

Gene Model

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

AlphaFold

Q9Z1N9

Predicted Effect

probably benign
Transcript: ENSMUST00000079978

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456

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 benign
Transcript: ENSMUST00000107952

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456

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 benign
Transcript: ENSMUST00000107953

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456

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

probably benign
Transcript: ENSMUST00000163653

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456

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 benign
Transcript: ENSMUST00000207569

Predicted Effect

probably benign
Transcript: ENSMUST00000207708
AA Change: I530V

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,767,141 (GRCm39)	T499A	probably benign	Het
Ahsa1	G	T	12: 87,320,451 (GRCm39)	E311*	probably null	Het
Apol9a	C	T	15: 77,288,813 (GRCm39)	V185I	probably benign	Het
Arhgap27	T	A	11: 103,224,073 (GRCm39)	D580V	probably damaging	Het
Arpp21	A	C	9: 111,978,440 (GRCm39)	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,756,989 (GRCm39)	T481S	probably benign	Het
Cct8	G	A	16: 87,290,651 (GRCm39)	R59C	possibly damaging	Het
Cdhr5	C	T	7: 140,851,801 (GRCm39)	G501E	possibly damaging	Het
Chka	G	A	19: 3,902,414 (GRCm39)		probably null	Het
Cit	C	A	5: 116,024,856 (GRCm39)	N366K	probably benign	Het
Dennd4a	A	T	9: 64,796,391 (GRCm39)	M806L	probably benign	Het
Dhx9	T	A	1: 153,344,657 (GRCm39)	H510L	probably damaging	Het
Esyt3	C	T	9: 99,209,966 (GRCm39)	V305I	probably benign	Het
Fbxo40	A	T	16: 36,790,985 (GRCm39)	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,561,715 (GRCm39)	M160V	probably damaging	Het
Frem2	A	G	3: 53,560,562 (GRCm39)	V1315A	probably benign	Het
Gbp9	T	A	5: 105,231,464 (GRCm39)	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,011,305 (GRCm39)	S249A	probably damaging	Het
Gm14418	T	A	2: 177,079,086 (GRCm39)	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,397,957 (GRCm39)	P295Q	probably damaging	Het
Kdm2b	T	C	5: 123,018,579 (GRCm39)	N954D	probably benign	Het
Klf15	C	T	6: 90,443,778 (GRCm39)	H118Y	probably damaging	Het
Lrit2	G	T	14: 36,791,034 (GRCm39)	A238S	probably damaging	Het
Man2c1	A	C	9: 57,042,783 (GRCm39)	M218L	probably benign	Het
Map3k1	T	A	13: 111,892,138 (GRCm39)	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,769,136 (GRCm39)	S971P	probably benign	Het
Map4k3	C	T	17: 80,971,446 (GRCm39)	V74I	probably damaging	Het
Mars1	A	T	10: 127,136,368 (GRCm39)	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,371,887 (GRCm39)	S327R	possibly damaging	Het
Mkks	G	A	2: 136,722,923 (GRCm39)	T78M	possibly damaging	Het
Mst1	C	T	9: 107,958,698 (GRCm39)		probably benign	Het
Myh1	G	T	11: 67,112,465 (GRCm39)	A1811S	probably damaging	Het
Myh13	A	G	11: 67,241,113 (GRCm39)	H830R	possibly damaging	Het
Nek4	A	G	14: 30,692,505 (GRCm39)	D443G	possibly damaging	Het
Nf1	T	C	11: 79,438,518 (GRCm39)	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049 (GRCm39)		probably null	Het
Nos1ap	G	T	1: 170,155,194 (GRCm39)	P220T	unknown	Het
Nrxn3	T	A	12: 90,298,583 (GRCm39)	I368N	probably benign	Het
Nup133	T	A	8: 124,649,156 (GRCm39)	Q562L	probably benign	Het
Nup214	T	A	2: 31,880,266 (GRCm39)	L342Q	probably damaging	Het
Nxn	A	G	11: 76,163,232 (GRCm39)	S264P	probably damaging	Het
Or11g24	G	T	14: 50,662,137 (GRCm39)	D54Y	probably damaging	Het
Otud4	T	C	8: 80,395,927 (GRCm39)	S567P	probably benign	Het
Patl2	A	C	2: 121,955,754 (GRCm39)	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,126,865 (GRCm39)	P315S	probably damaging	Het
Pcm1	T	A	8: 41,736,616 (GRCm39)	H827Q	probably damaging	Het
Pirb	G	A	7: 3,719,045 (GRCm39)	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,492,768 (GRCm39)	H236L	probably damaging	Het
Prkd1	C	T	12: 50,439,675 (GRCm39)	G384E	probably benign	Het
Rmnd1	C	A	10: 4,377,278 (GRCm39)	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206 (GRCm39)	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,471,691 (GRCm39)	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,866,010 (GRCm39)	I301L	probably benign	Het
Slc38a11	C	T	2: 65,160,635 (GRCm39)	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,266,308 (GRCm39)		probably null	Het
Slc7a6	T	C	8: 106,920,165 (GRCm39)	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,246,542 (GRCm39)	I837T	probably benign	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Tlr3	A	T	8: 45,851,896 (GRCm39)	F334I	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,722 (GRCm39)	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,454,518 (GRCm39)	Y239N	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
R6753:Unc13b	UTSW	4	43,239,331 (GRCm39)	missense	probably damaging	1.00
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
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'- CACTGTCTGGACCACTGAAAG -3'
(R):5'- ATGGACCCATTGTTCTCCAGC -3'

Sequencing Primer
(F):5'- TGTCTGGACCACTGAAAGCAGATATG -3'
(R):5'- GCTTCTGAAATACCCCCTGCAG -3'

Posted On

2020-09-02