Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01919:Gm12185'

180033

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 #

IGL01919

Quality Score

Status

Chromosome

Chromosomal Location

48795483-48818009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48798886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 536 (T536A)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

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

AlphaFold

Q5NCB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059930
AA Change: T536A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: T536A

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

possibly damaging
Transcript: ENSMUST00000094476
AA Change: T536A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: T536A

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
2700062C07Rik	A	G	18: 24,608,580 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,604,986 (GRCm39)	F2212S	possibly damaging	Het
Anpep	T	C	7: 79,475,098 (GRCm39)	I155V	possibly damaging	Het
Aoc1	G	A	6: 48,885,223 (GRCm39)	V653M	probably damaging	Het
Arl8b	T	C	6: 108,798,518 (GRCm39)		probably benign	Het
Bax	A	C	7: 45,115,552 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,852,382 (GRCm39)	E195K	probably damaging	Het
Csmd3	A	G	15: 47,539,168 (GRCm39)	I2330T	possibly damaging	Het
Dnajc16	A	G	4: 141,501,940 (GRCm39)	S297P	probably benign	Het
Farp2	A	G	1: 93,504,155 (GRCm39)	K311E	probably damaging	Het
Fhad1	A	G	4: 141,691,906 (GRCm39)	L410P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hydin	C	T	8: 111,245,806 (GRCm39)	T2173I	possibly damaging	Het
Kpnb1	A	G	11: 97,055,556 (GRCm39)	V783A	probably benign	Het
Krt1	A	G	15: 101,754,811 (GRCm39)	V509A	unknown	Het
Lrwd1	A	T	5: 136,164,729 (GRCm39)	L26*	probably null	Het
Mal2	T	A	15: 54,451,728 (GRCm39)	W50R	probably damaging	Het
Map3k21	A	T	8: 126,668,871 (GRCm39)	E819V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mroh2b	T	C	15: 4,953,170 (GRCm39)	F635L	probably benign	Het
Mylip	G	A	13: 45,562,178 (GRCm39)	E327K	probably damaging	Het
Nfix	T	C	8: 85,453,103 (GRCm39)	D308G	probably damaging	Het
Or1l8	G	A	2: 36,817,824 (GRCm39)	Q101*	probably null	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Psma6	A	G	12: 55,454,254 (GRCm39)	E26G	probably damaging	Het
Rgs16	T	A	1: 153,617,804 (GRCm39)	S105T	probably damaging	Het
Slc25a23	T	A	17: 57,354,291 (GRCm39)	N372Y	possibly damaging	Het
Slc35e2	A	G	4: 155,697,187 (GRCm39)	M234V	probably benign	Het
Tbc1d8	A	G	1: 39,431,334 (GRCm39)	V346A	probably damaging	Het
Tgfb1i1	C	T	7: 127,847,654 (GRCm39)		probably benign	Het
Triml2	A	C	8: 43,643,349 (GRCm39)	T177P	probably damaging	Het
Uba6	T	C	5: 86,267,245 (GRCm39)	T959A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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
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

2014-05-07