Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Unc13b'

373225

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B

Synonyms

Munc13-2, Unc13h2

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

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

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43237137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 3402 (I3402M)

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: I602M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: I602M

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: I614M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: I614M

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: I602M

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: I602M

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: ENSMUST00000127597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149945

Predicted Effect

probably damaging
Transcript: ENSMUST00000163653
AA Change: I614M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: I614M

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: I3402M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207708
AA Change: I975M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	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
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'- CCTTTAGGGGCTGCTGAAAAG -3'
(R):5'- AAGTACTTGCCTCTTGTAGCACC -3'

Sequencing Primer
(F):5'- GGACCGAACTCAGAACATTATCATGG -3'
(R):5'- TGTAGCACCTAGTCTAAATGAGGAC -3'

Posted On

2016-03-01