Mutagenetix > Incidental Mutation

Incidental Mutation 'R2317:Unc13b'

245520

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B

Synonyms

Munc13-2, Unc13h2

MMRRC Submission

040312-MU

Accession Numbers

Essential gene?

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

Stock #

R2317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43245514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3722 (D3722G)

Ref Sequence

ENSEMBL: ENSMUSP00000147100 (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: D922G

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

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: D922G

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: D934G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: D934G

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: D922G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: D922G

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: ENSMUST00000149945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153168

Predicted Effect

probably damaging
Transcript: ENSMUST00000163653
AA Change: D934G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: D934G

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 damaging
Transcript: ENSMUST00000207569
AA Change: D3722G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207708
AA Change: D1295G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc102a	T	C	8: 95,634,957 (GRCm39)	D327G	probably null	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cfap126	A	G	1: 170,953,700 (GRCm39)	D134G	possibly damaging	Het
Cript	T	C	17: 87,335,139 (GRCm39)	L19P	probably benign	Het
Cwf19l1	A	C	19: 44,120,597 (GRCm39)	L39V	possibly damaging	Het
Eif2b4	T	C	5: 31,348,920 (GRCm39)		probably null	Het
Esp16	A	G	17: 39,850,738 (GRCm39)	N39S	probably benign	Het
Fbxo30	A	G	10: 11,166,078 (GRCm39)	N267D	probably damaging	Het
Gabra6	T	C	11: 42,208,607 (GRCm39)		probably null	Het
Gp1ba	A	G	11: 70,531,473 (GRCm39)		probably benign	Het
Klf12	C	T	14: 100,179,503 (GRCm39)	R279Q	probably benign	Het
Lats1	C	T	10: 7,567,540 (GRCm39)	Q104*	probably null	Het
Myrfl	A	G	10: 116,675,289 (GRCm39)	Y215H	possibly damaging	Het
Ncoa1	A	G	12: 4,325,189 (GRCm39)	I963T	probably damaging	Het
Neurod6	A	G	6: 55,655,906 (GRCm39)	Y244H	probably damaging	Het
Nodal	T	C	10: 61,254,212 (GRCm39)	M45T	possibly damaging	Het
Nuggc	A	G	14: 65,861,591 (GRCm39)	E479G	possibly damaging	Het
Pdcd6ip	T	C	9: 113,501,842 (GRCm39)	D467G	probably benign	Het
Pnmt	C	A	11: 98,277,677 (GRCm39)	Q74K	probably benign	Het
Slc25a36	G	A	9: 96,961,235 (GRCm39)	T267I	probably damaging	Het
Slc35e3	A	G	10: 117,580,804 (GRCm39)	S167P	probably damaging	Het
Sprr2f	C	A	3: 92,273,390 (GRCm39)	P63H	unknown	Het
Stt3a	T	C	9: 36,659,371 (GRCm39)	I323V	probably benign	Het
Tedc2	A	G	17: 24,435,358 (GRCm39)	S344P	probably benign	Het
Zfp35	T	C	18: 24,136,555 (GRCm39)	Y300H	probably damaging	Het
Zfp959	A	G	17: 56,204,326 (GRCm39)	D121G	possibly 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
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
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'- CTGCTGCCAGTGTTCATGAG -3'
(R):5'- TCAAGGACTTTGTTTTGAGCTC -3'

Sequencing Primer
(F):5'- AGATCCCAGTTCTCGGGATATAG -3'
(R):5'- CCTTTCCACCATGAATTTCGAG -3'

Posted On

2014-10-30