Mutagenetix > Incidental Mutations

Incidental Mutation 'R0904:Gm13212'

83241

Institutional Source

Beutler Lab

Gene Symbol

Gm13212

Ensembl Gene

ENSMUSG00000078502

Gene Name

predicted gene 13212

Synonyms

MMRRC Submission

039062-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0904 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

145585166-145625345 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145622175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 61 (Y61H)

Ref Sequence

ENSEMBL: ENSMUSP00000112918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097794] [ENSMUST00000105739] [ENSMUST00000119718]

AlphaFold

B1ASQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097794
AA Change: Y61H

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095402
Gene: ENSMUSG00000078502
AA Change: Y61H

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.3e-4	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	1.06e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105739
AA Change: Y61H

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101365
Gene: ENSMUSG00000078502
AA Change: Y61H

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.3e-4	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	1.06e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.06e-4	SMART
ZnF_C2H2	490	512	1.58e-3	SMART
ZnF_C2H2	518	540	3.39e-3	SMART
ZnF_C2H2	546	568	3.39e-3	SMART
ZnF_C2H2	574	596	3.39e-3	SMART
ZnF_C2H2	602	624	3.39e-3	SMART
ZnF_C2H2	630	652	1.06e-4	SMART
ZnF_C2H2	658	680	1.58e-3	SMART
ZnF_C2H2	686	708	3.39e-3	SMART
ZnF_C2H2	714	736	1.3e-4	SMART
ZnF_C2H2	742	764	1.3e-4	SMART
ZnF_C2H2	770	792	4.79e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119718
AA Change: Y61H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112918
Gene: ENSMUSG00000078502
AA Change: Y61H

Domain	Start	End	E-Value	Type
KRAB	13	72	3.23e-18	SMART
internal_repeat_1	141	211	2.19e-13	PROSPERO
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
low complexity region	320	335	N/A	INTRINSIC
low complexity region	350	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180968

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 94.7%

Validation Efficiency

89% (34/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,248,489		probably benign	Het
2810474O19Rik	G	A	6: 149,328,269	A938T	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,070	D102G	probably damaging	Het
Abca13	T	C	11: 9,298,740	V2829A	probably benign	Het
Adk	G	T	14: 21,092,428	D26Y	probably damaging	Het
Bpifb9a	T	C	2: 154,264,225		probably benign	Het
Dap	G	A	15: 31,272,380		probably benign	Het
Eqtn	A	T	4: 94,907,655	S270T	probably benign	Het
Fam193a	A	G	5: 34,462,143	D764G	probably damaging	Het
Fbxl6	A	T	15: 76,537,083		probably null	Het
Gm3259	A	C	5: 95,341,327	T210P	probably damaging	Het
Gtf3c1	A	T	7: 125,668,842		probably benign	Het
H2-D1	G	C	17: 35,263,861	M122I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map1s	C	A	8: 70,914,188	P579Q	probably damaging	Het
Mapk10	A	G	5: 102,987,280		probably benign	Het
Mllt6	C	G	11: 97,664,998	C51W	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Neurod2	G	T	11: 98,327,321	T339K	probably benign	Het
Nfya	G	A	17: 48,395,787	Q29*	probably null	Het
Nipbl	A	T	15: 8,361,718	D257E	probably benign	Het
Pex5	G	A	6: 124,399,937		probably benign	Het
Prx	T	A	7: 27,518,294	F879Y	probably damaging	Het
Scai	G	A	2: 39,075,152	T560M	possibly damaging	Het
Slfn10-ps	T	C	11: 83,035,409		noncoding transcript	Het
Spdye4b	A	G	5: 143,195,668		probably benign	Het
Ss18l1	A	G	2: 180,059,354	Y287C	probably damaging	Het
Tpbg	C	A	9: 85,844,564	F195L	unknown	Het
Trbv16	T	C	6: 41,151,847		probably benign	Het
Unc5c	A	G	3: 141,803,840	T620A	probably benign	Het
Vangl1	A	G	3: 102,183,994	S259P	probably damaging	Het
Vmn1r52	T	A	6: 90,179,464	M71K	probably damaging	Het
Vmn2r23	A	T	6: 123,742,135	I816F	probably damaging	Het

Other mutations in Gm13212

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Gm13212	APN	4	145620671	missense	probably damaging	0.98
IGL02678:Gm13212	APN	4	145622497	missense	probably damaging	1.00
IGL03035:Gm13212	APN	4	145622232	missense	possibly damaging	0.77
BB008:Gm13212	UTSW	4	145622556	missense	possibly damaging	0.49
BB018:Gm13212	UTSW	4	145622556	missense	possibly damaging	0.49
R0090:Gm13212	UTSW	4	145622625	nonsense	probably null
R1617:Gm13212	UTSW	4	145624307	utr 3 prime	probably benign
R1851:Gm13212	UTSW	4	145624250	unclassified	probably benign
R1864:Gm13212	UTSW	4	145622428	missense	possibly damaging	0.92
R2093:Gm13212	UTSW	4	145622569	missense	probably benign	0.02
R2132:Gm13212	UTSW	4	145624233	unclassified	probably benign
R2240:Gm13212	UTSW	4	145585321	start gained	probably benign
R4177:Gm13212	UTSW	4	145620655	missense	probably damaging	1.00
R4584:Gm13212	UTSW	4	145617177	critical splice donor site	probably null
R4991:Gm13212	UTSW	4	145622334	missense	probably benign	0.31
R5164:Gm13212	UTSW	4	145622205	missense	probably damaging	1.00
R6175:Gm13212	UTSW	4	145624241	unclassified	probably benign
R6176:Gm13212	UTSW	4	145624058	nonsense	probably null
R6498:Gm13212	UTSW	4	145622889	missense	probably damaging	0.98
R6984:Gm13212	UTSW	4	145620616	missense	probably damaging	1.00
R7134:Gm13212	UTSW	4	145622805	missense	possibly damaging	0.93
R7931:Gm13212	UTSW	4	145622556	missense	possibly damaging	0.49
R8017:Gm13212	UTSW	4	145622568	missense	probably benign	0.28
R8282:Gm13212	UTSW	4	145622977	missense	possibly damaging	0.94
R9320:Gm13212	UTSW	4	145622586	missense	possibly damaging	0.77
R9358:Gm13212	UTSW	4	145623043	missense	possibly damaging	0.79
R9435:Gm13212	UTSW	4	145622475	missense
V5622:Gm13212	UTSW	4	145585321	start gained	probably benign
Z1176:Gm13212	UTSW	4	145622968	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCCTTATTTGTCCCAGCTTATGCAAAGT -3'
(R):5'- TGGTTCGAGTATTGAAGAGAGCTGTGAT -3'

Sequencing Primer
(F):5'- cctcttttccattctttgtccc -3'
(R):5'- ATTGAAGAGAGCTGTGATAAGTTTTG -3'

Posted On

2013-11-08