Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00495:Gm12185'

10986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

48795483-48818009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48798688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 602 (S602P)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]

AlphaFold

Q5NCB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059930
AA Change: S602P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: S602P

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094476
AA Change: S602P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: S602P

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	1e-122	PFAM
Pfam:DLIC	43	98	3.2e-5	PFAM
Pfam:MMR_HSR1	63	187	6e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	8.9e-153	PFAM
Pfam:MMR_HSR1	474	615	2.6e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,327,143 (GRCm39)	T679A	probably benign	Het
Bhlhe40	T	A	6: 108,638,139 (GRCm39)	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,575,607 (GRCm39)	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,500,355 (GRCm39)	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,469,272 (GRCm39)	Q618R	probably benign	Het
Cog5	T	A	12: 31,887,308 (GRCm39)	N476K	probably benign	Het
Dhx36	G	A	3: 62,377,979 (GRCm39)		probably benign	Het
Dnajb8	G	T	6: 88,199,836 (GRCm39)	R124L	possibly damaging	Het
Dnajc16	A	T	4: 141,490,874 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,120,806 (GRCm39)	D717G	probably benign	Het
Eps15	G	T	4: 109,166,346 (GRCm39)	V80L	probably damaging	Het
Fmn1	G	A	2: 113,274,812 (GRCm39)		probably benign	Het
Gm28539	T	G	16: 18,773,530 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,562,290 (GRCm39)	N520S	probably benign	Het
Hivep2	A	G	10: 14,017,988 (GRCm39)	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,888,287 (GRCm39)	H143R	probably benign	Het
Igsf8	T	G	1: 172,145,111 (GRCm39)	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,951,562 (GRCm39)	S68A	probably benign	Het
Lrrc15	T	A	16: 30,092,848 (GRCm39)	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,031,643 (GRCm39)	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,579,249 (GRCm39)	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,818,493 (GRCm39)	R1332G	probably benign	Het
Plekha1	A	G	7: 130,479,569 (GRCm39)	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,723,162 (GRCm39)	H221L	probably damaging	Het
Pomt2	T	C	12: 87,171,630 (GRCm39)	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,728,835 (GRCm39)	T79N	possibly damaging	Het
Ppp4r3b	A	C	11: 29,161,782 (GRCm39)	T719P	possibly damaging	Het
Socs4	G	A	14: 47,527,709 (GRCm39)	V215I	probably benign	Het
Spg11	A	G	2: 121,924,937 (GRCm39)		probably null	Het
Stk31	T	A	6: 49,414,377 (GRCm39)	C459S	probably benign	Het
Ttn	A	G	2: 76,539,546 (GRCm39)	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,478,817 (GRCm39)		probably benign	Het
Vrk3	A	T	7: 44,419,071 (GRCm39)	K383M	probably damaging	Het
Wdr83	A	T	8: 85,806,443 (GRCm39)	N118K	probably damaging	Het

Other mutations in Gm12185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gm12185	APN	11	48,798,049 (GRCm39)	missense	probably benign	0.01
IGL01763:Gm12185	APN	11	48,806,671 (GRCm39)	missense	probably benign	0.07
IGL01919:Gm12185	APN	11	48,798,886 (GRCm39)	missense	possibly damaging	0.90
IGL03388:Gm12185	APN	11	48,799,113 (GRCm39)	missense	probably benign	0.01
IGL03404:Gm12185	APN	11	48,798,864 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Gm12185	UTSW	11	48,798,738 (GRCm39)	missense	probably damaging	1.00
R0347:Gm12185	UTSW	11	48,806,009 (GRCm39)	missense	probably benign	0.29
R0488:Gm12185	UTSW	11	48,798,666 (GRCm39)	missense	probably damaging	1.00
R1168:Gm12185	UTSW	11	48,806,182 (GRCm39)	missense	possibly damaging	0.60
R1223:Gm12185	UTSW	11	48,798,103 (GRCm39)	missense	probably damaging	0.98
R1417:Gm12185	UTSW	11	48,798,669 (GRCm39)	missense	probably damaging	1.00
R1468:Gm12185	UTSW	11	48,806,501 (GRCm39)	missense	possibly damaging	0.60
R1468:Gm12185	UTSW	11	48,806,501 (GRCm39)	missense	possibly damaging	0.60
R1519:Gm12185	UTSW	11	48,798,594 (GRCm39)	missense	probably damaging	1.00
R1558:Gm12185	UTSW	11	48,806,262 (GRCm39)	missense	probably damaging	0.99
R1630:Gm12185	UTSW	11	48,798,717 (GRCm39)	missense	probably benign	0.31
R1758:Gm12185	UTSW	11	48,798,859 (GRCm39)	missense	possibly damaging	0.82
R1793:Gm12185	UTSW	11	48,806,583 (GRCm39)	nonsense	probably null
R1908:Gm12185	UTSW	11	48,806,231 (GRCm39)	missense	probably benign	0.00
R1983:Gm12185	UTSW	11	48,806,183 (GRCm39)	missense	probably benign	0.01
R3917:Gm12185	UTSW	11	48,806,760 (GRCm39)	missense	probably benign	0.01
R3969:Gm12185	UTSW	11	48,798,172 (GRCm39)	missense	probably benign	0.03
R3970:Gm12185	UTSW	11	48,798,172 (GRCm39)	missense	probably benign	0.03
R4510:Gm12185	UTSW	11	48,799,305 (GRCm39)	missense	possibly damaging	0.84
R4511:Gm12185	UTSW	11	48,799,305 (GRCm39)	missense	possibly damaging	0.84
R4529:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4529:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4532:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4532:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4533:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4533:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4678:Gm12185	UTSW	11	48,806,367 (GRCm39)	missense	probably benign	0.05
R5094:Gm12185	UTSW	11	48,798,375 (GRCm39)	missense	probably benign	0.35
R5238:Gm12185	UTSW	11	48,799,044 (GRCm39)	missense	possibly damaging	0.92
R5306:Gm12185	UTSW	11	48,806,382 (GRCm39)	missense	probably benign	0.03
R5371:Gm12185	UTSW	11	48,806,566 (GRCm39)	missense	probably benign	0.01
R5995:Gm12185	UTSW	11	48,806,540 (GRCm39)	missense	probably benign	0.40
R6113:Gm12185	UTSW	11	48,806,167 (GRCm39)	missense	possibly damaging	0.47
R6147:Gm12185	UTSW	11	48,806,717 (GRCm39)	missense	probably benign
R6160:Gm12185	UTSW	11	48,799,255 (GRCm39)	nonsense	probably null
R6247:Gm12185	UTSW	11	48,806,735 (GRCm39)	missense	probably damaging	0.98
R6264:Gm12185	UTSW	11	48,807,002 (GRCm39)	missense	probably benign	0.01
R6748:Gm12185	UTSW	11	48,807,123 (GRCm39)	missense	possibly damaging	0.53
R6765:Gm12185	UTSW	11	48,806,531 (GRCm39)	missense	probably benign	0.12
R6970:Gm12185	UTSW	11	48,798,739 (GRCm39)	nonsense	probably null
R7028:Gm12185	UTSW	11	48,799,071 (GRCm39)	missense	possibly damaging	0.80
R7033:Gm12185	UTSW	11	48,806,826 (GRCm39)	missense	probably benign
R7512:Gm12185	UTSW	11	48,806,717 (GRCm39)	missense	probably benign
R7609:Gm12185	UTSW	11	48,806,850 (GRCm39)	missense	possibly damaging	0.82
R7673:Gm12185	UTSW	11	48,798,455 (GRCm39)	missense	probably benign	0.45
R8848:Gm12185	UTSW	11	48,806,280 (GRCm39)	missense	possibly damaging	0.60
R9578:Gm12185	UTSW	11	48,806,408 (GRCm39)	missense	probably benign
R9580:Gm12185	UTSW	11	48,799,192 (GRCm39)	missense	possibly damaging	0.48
R9712:Gm12185	UTSW	11	48,798,216 (GRCm39)	missense	probably benign	0.03
R9760:Gm12185	UTSW	11	48,806,168 (GRCm39)	missense	probably benign	0.01
Z1176:Gm12185	UTSW	11	48,798,913 (GRCm39)	missense	probably benign	0.21
Z1177:Gm12185	UTSW	11	48,807,129 (GRCm39)	missense	probably benign

Posted On

2012-12-06