Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Unc13b'

543363

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B (C. elegans)

Synonyms

Unc13h2, Munc13-2

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43263538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1587 (F1587L)

Ref Sequence

ENSEMBL: ENSMUSP00000128608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079978] [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000107952] [ENSMUST00000107953] [ENSMUST00000136262] [ENSMUST00000163653] [ENSMUST00000207569] [ENSMUST00000207708]

AlphaFold

Q9Z1N9

Predicted Effect

probably benign
Transcript: ENSMUST00000079978
AA Change: F1576L

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: F1576L

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: ENSMUST00000102953

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
Blast:CUB	55	90	1e-6	BLAST
Pfam:E1-E2_ATPase	107	305	4.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably benign
Transcript: ENSMUST00000107942

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	104	1.8e-26	PFAM
Pfam:E1-E2_ATPase	103	375	4.9e-9	PFAM
Pfam:HAD	413	847	2e-18	PFAM
Pfam:Cation_ATPase	495	594	1e-9	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2.6e-77	PFAM
low complexity region	1171	1180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107952
AA Change: F1588L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: F1588L

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

possibly damaging
Transcript: ENSMUST00000107953
AA Change: F1595L

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: F1595L

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: ENSMUST00000136262

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163653
AA Change: F1587L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: F1587L

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

possibly damaging
Transcript: ENSMUST00000207569
AA Change: F4376L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207708
AA Change: F1968L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,981,335 (GRCm38)	L800H	unknown	Het
Ap2b1	T	A	11: 83,389,726 (GRCm38)	D788E	probably damaging	Het
Arfgef1	T	C	1: 10,153,678 (GRCm38)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679 (GRCm38)	Q1465K	probably damaging	Het
Arhgap9	G	A	10: 127,326,643 (GRCm38)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,891,930 (GRCm38)	F19I	probably benign	Het
Bdp1	A	T	13: 100,074,531 (GRCm38)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,852,305 (GRCm38)	*427Q	probably null	Het
Chd9	A	C	8: 90,978,914 (GRCm38)	Q260P	probably benign	Het
Col16a1	A	T	4: 130,093,087 (GRCm38)		probably benign	Het
Csmd1	A	T	8: 17,216,789 (GRCm38)	N40K	possibly damaging	Het
Depdc5	T	G	5: 32,983,860 (GRCm38)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,358,238 (GRCm38)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,282,492 (GRCm38)	Q691R	probably damaging	Het
Dusp10	T	C	1: 184,068,888 (GRCm38)	L284P	probably damaging	Het
Efr3b	A	G	12: 3,968,624 (GRCm38)	V574A	probably benign	Het
Erc2	A	T	14: 27,898,596 (GRCm38)	I60F	probably damaging	Het
Exoc2	A	G	13: 30,911,178 (GRCm38)	V245A	probably benign	Het
Fasl	G	T	1: 161,781,675 (GRCm38)	F37L	probably damaging	Het
Fat3	G	A	9: 16,029,916 (GRCm38)	P1360S	probably benign	Het
Gm12666	A	G	4: 92,191,589 (GRCm38)	I54T	probably damaging	Het
Gpsm1	C	T	2: 26,340,543 (GRCm38)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,555,331 (GRCm38)	G124V	probably damaging	Het
Insm2	T	C	12: 55,600,178 (GRCm38)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,882,694 (GRCm38)	Y402H	possibly damaging	Het
Irx6	A	G	8: 92,677,330 (GRCm38)	E175G	probably damaging	Het
Kcnh8	C	T	17: 52,877,943 (GRCm38)	R418*	probably null	Het
Kif3c	G	A	12: 3,366,114 (GRCm38)	R45Q	probably benign	Het
Lpin1	A	G	12: 16,580,861 (GRCm38)	F12S	probably damaging	Het
Lrba	A	T	3: 86,619,590 (GRCm38)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,639,373 (GRCm38)	N200K	probably benign	Het
Lrrc7	G	A	3: 158,156,913 (GRCm38)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,415,690 (GRCm38)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,457,800 (GRCm38)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,257,536 (GRCm38)	A15P	probably damaging	Het
Myh2	T	C	11: 67,197,266 (GRCm38)	F1903L	probably benign	Het
Myom3	T	C	4: 135,801,060 (GRCm38)	L1072P	probably damaging	Het
Olfr1350	G	A	7: 6,570,321 (GRCm38)	C110Y	probably damaging	Het
Olfr1402	A	T	3: 97,410,802 (GRCm38)	Y126*	probably null	Het
Olfr680-ps1	T	C	7: 105,091,256 (GRCm38)	I128V	probably benign	Het
Olfr855	A	T	9: 19,584,590 (GRCm38)	T18S	possibly damaging	Het
Patl2	A	T	2: 122,128,929 (GRCm38)	V18D	possibly damaging	Het
Pkn1	T	C	8: 83,683,426 (GRCm38)	S395G	probably damaging	Het
Ptprm	A	G	17: 66,912,418 (GRCm38)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 185,236,012 (GRCm38)	L187P	probably damaging	Het
Ric1	A	T	19: 29,585,782 (GRCm38)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,985,737 (GRCm38)	K598R	probably benign	Het
Rnf40	A	G	7: 127,596,323 (GRCm38)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Sbsn	A	G	7: 30,753,191 (GRCm38)	T544A	probably benign	Het
Scaf1	C	A	7: 45,007,829 (GRCm38)		probably benign	Het
Sec24a	T	C	11: 51,700,816 (GRCm38)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,804,327 (GRCm38)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,308,826 (GRCm38)	V383F	probably damaging	Het
Slc5a2	A	G	7: 128,272,077 (GRCm38)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,464,808 (GRCm38)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,196,320 (GRCm38)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,865,125 (GRCm38)	A314T	probably damaging	Het
Sptb	A	T	12: 76,608,007 (GRCm38)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm38)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,241,542 (GRCm38)	Y424C	probably damaging	Het
Tgm3	A	G	2: 130,042,029 (GRCm38)	K536E	probably benign	Het
Tti2	A	G	8: 31,154,301 (GRCm38)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,374,048 (GRCm38)	S334L	probably benign	Het
Vgf	G	T	5: 137,031,653 (GRCm38)		probably benign	Het
Zfp59	T	C	7: 27,853,497 (GRCm38)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,290,567 (GRCm38)	M144K	possibly damaging	Het
Zfp93	A	T	7: 24,275,381 (GRCm38)	K264*	probably null	Het

Other mutations in Unc13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Unc13b	APN	4	43,240,285 (GRCm38)	missense	probably damaging	1.00
IGL00832:Unc13b	APN	4	43,258,921 (GRCm38)	missense	probably damaging	1.00
IGL01111:Unc13b	APN	4	43,096,927 (GRCm38)	missense	possibly damaging	0.76
IGL01115:Unc13b	APN	4	43,258,492 (GRCm38)	missense	probably damaging	1.00
IGL01137:Unc13b	APN	4	43,091,291 (GRCm38)	missense	probably damaging	1.00
IGL01637:Unc13b	APN	4	43,241,066 (GRCm38)	missense	probably damaging	1.00
IGL01789:Unc13b	APN	4	43,239,462 (GRCm38)	missense	probably damaging	1.00
IGL01792:Unc13b	APN	4	43,250,218 (GRCm38)	missense	probably damaging	0.99
IGL01877:Unc13b	APN	4	43,249,583 (GRCm38)	critical splice donor site	probably null
IGL01924:Unc13b	APN	4	43,239,385 (GRCm38)	nonsense	probably null
IGL02087:Unc13b	APN	4	43,091,270 (GRCm38)	missense	probably null	1.00
IGL02197:Unc13b	APN	4	43,165,828 (GRCm38)	missense	probably damaging	0.99
IGL02504:Unc13b	APN	4	43,263,031 (GRCm38)	missense	probably damaging	1.00
IGL02659:Unc13b	APN	4	43,235,332 (GRCm38)	missense	probably damaging	1.00
IGL03031:Unc13b	APN	4	43,235,368 (GRCm38)	missense	probably damaging	1.00
IGL03036:Unc13b	APN	4	43,235,249 (GRCm38)	missense	probably damaging	1.00
IGL03209:Unc13b	APN	4	43,239,351 (GRCm38)	missense	probably damaging	0.99
IGL03352:Unc13b	APN	4	43,237,110 (GRCm38)	missense	possibly damaging	0.90
BB006:Unc13b	UTSW	4	43,174,399 (GRCm38)	missense	unknown
BB016:Unc13b	UTSW	4	43,174,399 (GRCm38)	missense	unknown
G1Funyon:Unc13b	UTSW	4	43,263,568 (GRCm38)	missense	probably benign
P0028:Unc13b	UTSW	4	43,256,225 (GRCm38)	missense	probably damaging	1.00
PIT4585001:Unc13b	UTSW	4	43,091,298 (GRCm38)	missense	probably benign	0.03
R0019:Unc13b	UTSW	4	43,096,990 (GRCm38)	missense	possibly damaging	0.58
R0019:Unc13b	UTSW	4	43,096,990 (GRCm38)	missense	possibly damaging	0.58
R0335:Unc13b	UTSW	4	43,236,983 (GRCm38)	missense	possibly damaging	0.95
R0504:Unc13b	UTSW	4	43,263,559 (GRCm38)	missense	probably damaging	0.99
R0631:Unc13b	UTSW	4	43,182,849 (GRCm38)	missense	possibly damaging	0.47
R0748:Unc13b	UTSW	4	43,241,164 (GRCm38)	splice site	probably benign
R1275:Unc13b	UTSW	4	43,235,366 (GRCm38)	missense	probably damaging	1.00
R1293:Unc13b	UTSW	4	43,235,190 (GRCm38)	missense	probably damaging	1.00
R1434:Unc13b	UTSW	4	43,239,385 (GRCm38)	nonsense	probably null
R1552:Unc13b	UTSW	4	43,237,144 (GRCm38)	missense	probably damaging	0.99
R1591:Unc13b	UTSW	4	43,244,747 (GRCm38)	missense	probably damaging	1.00
R1628:Unc13b	UTSW	4	43,263,371 (GRCm38)	missense	probably damaging	1.00
R1740:Unc13b	UTSW	4	43,240,285 (GRCm38)	missense	probably damaging	1.00
R1839:Unc13b	UTSW	4	43,258,308 (GRCm38)	splice site	probably benign
R2045:Unc13b	UTSW	4	43,091,266 (GRCm38)	missense	probably damaging	1.00
R2191:Unc13b	UTSW	4	43,245,566 (GRCm38)	nonsense	probably null
R2259:Unc13b	UTSW	4	43,182,780 (GRCm38)	missense	possibly damaging	0.87
R2307:Unc13b	UTSW	4	43,239,854 (GRCm38)	missense	probably damaging	0.98
R2317:Unc13b	UTSW	4	43,245,514 (GRCm38)	missense	probably damaging	1.00
R2402:Unc13b	UTSW	4	43,095,843 (GRCm38)	missense	probably benign
R2847:Unc13b	UTSW	4	43,180,404 (GRCm38)	missense	probably benign	0.04
R3414:Unc13b	UTSW	4	43,234,658 (GRCm38)	splice site	probably benign
R3436:Unc13b	UTSW	4	43,097,028 (GRCm38)	splice site	probably benign
R3955:Unc13b	UTSW	4	43,256,834 (GRCm38)	missense	probably damaging	1.00
R3957:Unc13b	UTSW	4	43,256,834 (GRCm38)	missense	probably damaging	1.00
R4015:Unc13b	UTSW	4	43,237,801 (GRCm38)	missense	probably damaging	1.00
R4650:Unc13b	UTSW	4	43,261,035 (GRCm38)	missense	probably damaging	0.97
R4836:Unc13b	UTSW	4	43,237,137 (GRCm38)	missense	probably damaging	1.00
R5041:Unc13b	UTSW	4	43,237,836 (GRCm38)	missense	probably benign	0.41
R5413:Unc13b	UTSW	4	43,257,936 (GRCm38)	critical splice donor site	probably null
R5994:Unc13b	UTSW	4	43,172,596 (GRCm38)	intron	probably benign
R6015:Unc13b	UTSW	4	43,177,995 (GRCm38)	nonsense	probably null
R6090:Unc13b	UTSW	4	43,239,306 (GRCm38)	missense	probably damaging	1.00
R6242:Unc13b	UTSW	4	43,165,800 (GRCm38)	missense	possibly damaging	0.92
R6246:Unc13b	UTSW	4	43,216,246 (GRCm38)	missense	probably benign	0.18
R6427:Unc13b	UTSW	4	43,176,966 (GRCm38)	unclassified	probably benign
R6660:Unc13b	UTSW	4	43,177,412 (GRCm38)	unclassified	probably benign
R6670:Unc13b	UTSW	4	43,255,562 (GRCm38)	missense	probably damaging	0.99
R6753:Unc13b	UTSW	4	43,239,331 (GRCm38)	missense	probably damaging	1.00
R6858:Unc13b	UTSW	4	43,165,828 (GRCm38)	missense	possibly damaging	0.85
R6886:Unc13b	UTSW	4	43,170,156 (GRCm38)	intron	probably benign
R6994:Unc13b	UTSW	4	43,173,203 (GRCm38)	intron	probably benign
R6994:Unc13b	UTSW	4	43,171,403 (GRCm38)	intron	probably benign
R7080:Unc13b	UTSW	4	43,171,926 (GRCm38)	missense	unknown
R7117:Unc13b	UTSW	4	43,216,544 (GRCm38)	missense	probably benign	0.33
R7132:Unc13b	UTSW	4	43,215,757 (GRCm38)	missense	probably benign	0.17
R7181:Unc13b	UTSW	4	43,258,893 (GRCm38)	missense	probably damaging	0.99
R7192:Unc13b	UTSW	4	43,258,519 (GRCm38)	missense	probably damaging	1.00
R7246:Unc13b	UTSW	4	43,172,910 (GRCm38)	missense	unknown
R7342:Unc13b	UTSW	4	43,258,703 (GRCm38)	missense	probably damaging	0.99
R7345:Unc13b	UTSW	4	43,173,966 (GRCm38)	missense	unknown
R7355:Unc13b	UTSW	4	43,237,754 (GRCm38)	missense	probably damaging	1.00
R7391:Unc13b	UTSW	4	43,216,459 (GRCm38)	missense	probably benign	0.03
R7419:Unc13b	UTSW	4	43,174,023 (GRCm38)	missense	unknown
R7424:Unc13b	UTSW	4	43,172,235 (GRCm38)	missense	unknown
R7517:Unc13b	UTSW	4	43,215,765 (GRCm38)	missense	probably benign
R7532:Unc13b	UTSW	4	43,249,565 (GRCm38)	missense	probably benign	0.44
R7564:Unc13b	UTSW	4	43,091,258 (GRCm38)	missense	probably damaging	1.00
R7598:Unc13b	UTSW	4	43,263,569 (GRCm38)	missense	probably benign	0.20
R7604:Unc13b	UTSW	4	43,256,776 (GRCm38)	missense	possibly damaging	0.95
R7604:Unc13b	UTSW	4	43,170,102 (GRCm38)	missense	unknown
R7643:Unc13b	UTSW	4	43,216,333 (GRCm38)	missense	probably benign
R7718:Unc13b	UTSW	4	43,173,854 (GRCm38)	missense	unknown
R7735:Unc13b	UTSW	4	43,165,791 (GRCm38)	missense	probably damaging	1.00
R7756:Unc13b	UTSW	4	43,177,312 (GRCm38)	small deletion	probably benign
R7757:Unc13b	UTSW	4	43,177,341 (GRCm38)	small insertion	probably benign
R7757:Unc13b	UTSW	4	43,177,330 (GRCm38)	small insertion	probably benign
R7757:Unc13b	UTSW	4	43,177,312 (GRCm38)	small deletion	probably benign
R7758:Unc13b	UTSW	4	43,177,344 (GRCm38)	small insertion	probably benign
R7758:Unc13b	UTSW	4	43,177,312 (GRCm38)	small insertion	probably benign
R7781:Unc13b	UTSW	4	43,259,546 (GRCm38)	missense	possibly damaging	0.87
R7793:Unc13b	UTSW	4	43,172,737 (GRCm38)	missense	unknown
R7858:Unc13b	UTSW	4	43,176,285 (GRCm38)	missense	unknown
R7867:Unc13b	UTSW	4	43,232,573 (GRCm38)	nonsense	probably null
R7897:Unc13b	UTSW	4	43,171,860 (GRCm38)	missense	unknown
R7904:Unc13b	UTSW	4	43,217,075 (GRCm38)	missense	probably benign
R7929:Unc13b	UTSW	4	43,174,399 (GRCm38)	missense	unknown
R7984:Unc13b	UTSW	4	43,173,973 (GRCm38)	missense	unknown
R8069:Unc13b	UTSW	4	43,177,597 (GRCm38)	missense	unknown
R8101:Unc13b	UTSW	4	43,239,918 (GRCm38)	missense	probably benign	0.08
R8246:Unc13b	UTSW	4	43,175,954 (GRCm38)	missense	unknown
R8289:Unc13b	UTSW	4	43,172,524 (GRCm38)	nonsense	probably null
R8301:Unc13b	UTSW	4	43,263,568 (GRCm38)	missense	probably benign
R8397:Unc13b	UTSW	4	43,217,290 (GRCm38)	missense	probably benign	0.12
R8421:Unc13b	UTSW	4	43,178,304 (GRCm38)	missense	unknown
R8738:Unc13b	UTSW	4	43,177,564 (GRCm38)	missense	unknown
R8746:Unc13b	UTSW	4	43,176,120 (GRCm38)	missense	unknown
R8766:Unc13b	UTSW	4	43,174,722 (GRCm38)	missense	unknown
R8825:Unc13b	UTSW	4	43,237,683 (GRCm38)	splice site	probably benign
R8834:Unc13b	UTSW	4	43,175,954 (GRCm38)	missense	unknown
R8862:Unc13b	UTSW	4	43,235,207 (GRCm38)	missense	probably damaging	1.00
R8864:Unc13b	UTSW	4	43,174,724 (GRCm38)	missense	unknown
R8889:Unc13b	UTSW	4	43,176,484 (GRCm38)	missense	unknown
R8892:Unc13b	UTSW	4	43,176,484 (GRCm38)	missense	unknown
R8904:Unc13b	UTSW	4	43,178,531 (GRCm38)	intron	probably benign
R9089:Unc13b	UTSW	4	43,095,847 (GRCm38)	missense	probably damaging	1.00
R9144:Unc13b	UTSW	4	43,173,649 (GRCm38)	missense	unknown
R9149:Unc13b	UTSW	4	43,176,186 (GRCm38)	missense	unknown
R9173:Unc13b	UTSW	4	43,177,421 (GRCm38)	missense	unknown
R9200:Unc13b	UTSW	4	43,257,352 (GRCm38)	missense	possibly damaging	0.50
R9232:Unc13b	UTSW	4	43,240,321 (GRCm38)	missense	probably benign	0.03
R9269:Unc13b	UTSW	4	43,171,955 (GRCm38)	missense	unknown
R9320:Unc13b	UTSW	4	43,171,044 (GRCm38)	missense	unknown
R9335:Unc13b	UTSW	4	43,255,551 (GRCm38)	missense	probably damaging	0.99
R9335:Unc13b	UTSW	4	43,216,123 (GRCm38)	missense	possibly damaging	0.86
R9352:Unc13b	UTSW	4	43,177,313 (GRCm38)	nonsense	probably null
R9352:Unc13b	UTSW	4	43,177,312 (GRCm38)	small insertion	probably benign
R9378:Unc13b	UTSW	4	43,173,282 (GRCm38)	missense	unknown
R9382:Unc13b	UTSW	4	43,172,512 (GRCm38)	missense	unknown
R9569:Unc13b	UTSW	4	43,177,312 (GRCm38)	small deletion	probably benign
R9622:Unc13b	UTSW	4	43,172,513 (GRCm38)	missense
R9687:Unc13b	UTSW	4	43,174,920 (GRCm38)	missense	unknown
R9704:Unc13b	UTSW	4	43,237,102 (GRCm38)	missense	probably benign	0.31
R9721:Unc13b	UTSW	4	43,101,869 (GRCm38)	missense	probably benign
R9753:Unc13b	UTSW	4	43,182,842 (GRCm38)	nonsense	probably null
RF016:Unc13b	UTSW	4	43,177,350 (GRCm38)	small insertion	probably benign
RF016:Unc13b	UTSW	4	43,177,347 (GRCm38)	small insertion	probably benign
RF041:Unc13b	UTSW	4	43,177,338 (GRCm38)	small insertion	probably benign
RF056:Unc13b	UTSW	4	43,177,359 (GRCm38)	small insertion	probably benign
Z1176:Unc13b	UTSW	4	43,177,764 (GRCm38)	missense	unknown
Z1176:Unc13b	UTSW	4	43,177,191 (GRCm38)	missense	unknown
Z1176:Unc13b	UTSW	4	43,171,419 (GRCm38)	missense	unknown
Z1176:Unc13b	UTSW	4	43,261,043 (GRCm38)	missense	probably benign	0.11
Z1177:Unc13b	UTSW	4	43,173,669 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGAAGGATTACTGCTTTGCC -3'
(R):5'- AGCCATAGTCTTACTGCCCC -3'

Sequencing Primer
(F):5'- ATTACTGCTTTGCCCGGGAG -3'
(R):5'- CTTAGACATCCTAACTGGGAGAGTC -3'

Posted On

2018-11-28