Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00433:Gm12185'

6062

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: 0.062) question?

Stock #

IGL00433

Quality Score

Status

Chromosome

Chromosomal Location

48795483-48818009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48798049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 815 (S815T)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

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

AlphaFold

Q5NCB2

Predicted Effect

probably benign
Transcript: ENSMUST00000059930
AA Change: S815T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: S815T

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 benign
Transcript: ENSMUST00000094476
AA Change: S815T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: S815T

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,292,522 (GRCm39)	A196V	probably benign	Het
BC024139	A	G	15: 76,009,300 (GRCm39)	V238A	probably benign	Het
Bfar	G	A	16: 13,516,827 (GRCm39)	D350N	probably benign	Het
C4b	A	T	17: 34,961,015 (GRCm39)	F217Y	possibly damaging	Het
Camk1g	T	C	1: 193,029,657 (GRCm39)		probably benign	Het
Camkmt	A	G	17: 85,404,094 (GRCm39)		probably benign	Het
Cass4	T	C	2: 172,258,170 (GRCm39)	L56P	probably damaging	Het
Ccs	A	G	19: 4,875,636 (GRCm39)	I243T	possibly damaging	Het
Cds2	T	C	2: 132,139,213 (GRCm39)	V152A	probably damaging	Het
Chd1l	T	C	3: 97,497,921 (GRCm39)	N307D	probably damaging	Het
Cmtm2b	T	C	8: 105,057,078 (GRCm39)	I146T	possibly damaging	Het
Cntnap3	T	C	13: 64,920,545 (GRCm39)	Y608C	probably damaging	Het
Cog5	A	G	12: 31,735,703 (GRCm39)	R157G	probably damaging	Het
Csmd1	A	C	8: 16,281,387 (GRCm39)	F713V	probably damaging	Het
Csrp3	T	C	7: 48,480,440 (GRCm39)	N175D	probably benign	Het
Exoc4	A	G	6: 33,273,723 (GRCm39)	D176G	probably damaging	Het
Fbxo10	T	C	4: 45,058,684 (GRCm39)	D351G	probably damaging	Het
Gpld1	A	G	13: 25,170,905 (GRCm39)		probably benign	Het
Hspa2	T	C	12: 76,453,123 (GRCm39)	C606R	possibly damaging	Het
Leo1	C	T	9: 75,357,762 (GRCm39)		probably benign	Het
Mta3	C	T	17: 84,015,861 (GRCm39)	P21L	probably damaging	Het
Pkn1	T	C	8: 84,407,635 (GRCm39)	E471G	probably damaging	Het
Postn	C	T	3: 54,281,149 (GRCm39)	R425C	probably damaging	Het
Reln	A	G	5: 22,250,007 (GRCm39)	L676P	probably damaging	Het
Sin3a	G	A	9: 57,005,185 (GRCm39)	V362M	probably damaging	Het
Slc6a7	C	T	18: 61,134,363 (GRCm39)		probably null	Het
Smc6	A	T	12: 11,349,264 (GRCm39)	D749V	possibly damaging	Het
Smg5	C	T	3: 88,258,735 (GRCm39)	Q569*	probably null	Het
Sspo	G	A	6: 48,466,970 (GRCm39)	C4130Y	probably damaging	Het
Tlcd3a	T	C	11: 76,098,817 (GRCm39)	F164L	probably damaging	Het
Tnn	A	T	1: 159,925,776 (GRCm39)		probably benign	Het
Tomt	C	T	7: 101,551,393 (GRCm39)	R29H	probably benign	Het
Uggt2	A	T	14: 119,250,899 (GRCm39)	D1199E	probably benign	Het
Usp33	A	G	3: 152,079,046 (GRCm39)	K433E	probably benign	Het
Vmn2r89	A	G	14: 51,692,422 (GRCm39)	Y75C	probably damaging	Het
Wnt7a	C	T	6: 91,342,973 (GRCm39)	G303D	probably damaging	Het

Other mutations in Gm12185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Gm12185	APN	11	48,798,688 (GRCm39)	missense	probably damaging	0.99
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

2012-04-20