Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03404:Gm12185'

421516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL03404

Quality Score

Status

Chromosome

Chromosomal Location

48904656-48992226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48908037 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 543 (Y543F)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059930
AA Change: Y543F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: Y543F

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: Y543F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: Y543F

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	G	17: 32,312,276		probably benign	Het
Ap3d1	A	G	10: 80,730,037	S99P	probably damaging	Het
Arhgef1	T	A	7: 24,916,843	M304K	probably benign	Het
Arpc5l	T	C	2: 39,013,883	L128P	probably damaging	Het
Chl1	A	T	6: 103,693,091	I497F	probably damaging	Het
Dnah3	C	T	7: 119,938,977	G616E	probably damaging	Het
Filip1	T	C	9: 79,818,559	E926G	probably damaging	Het
Fras1	A	T	5: 96,728,581	H2391L	probably damaging	Het
Fry	A	T	5: 150,326,168	D148V	probably damaging	Het
Glg1	A	T	8: 111,159,902	M1086K	probably damaging	Het
Gtf3a	T	C	5: 146,950,639		probably null	Het
Hydin	A	T	8: 110,569,777	Y3646F	probably benign	Het
Itpr3	A	G	17: 27,091,518	D425G	probably damaging	Het
Lipo3	A	C	19: 33,583,040		probably benign	Het
Ltbp1	A	C	17: 75,225,306	K443T	probably damaging	Het
Mylk3	A	G	8: 85,342,681	I497T	probably damaging	Het
Nlrp5	A	G	7: 23,430,034	D842G	probably benign	Het
Olfr1087	A	G	2: 86,690,028		probably benign	Het
Olfr218	T	C	1: 173,204,199	V281A	probably benign	Het
Olfr429	A	G	1: 174,089,898	N286S	probably damaging	Het
Olfr605	A	T	7: 103,442,988	V45E	possibly damaging	Het
Pkd1	A	T	17: 24,564,406	I120L	probably damaging	Het
Ptprc	T	C	1: 138,093,001	N401S	probably damaging	Het
Rptn	A	G	3: 93,398,129	H923R	possibly damaging	Het
Rrp8	T	C	7: 105,734,938	K119R	probably benign	Het
Setd7	A	T	3: 51,532,986	Y211*	probably null	Het
Sfxn5	G	A	6: 85,299,536		probably benign	Het
Sun5	T	C	2: 153,871,004		probably benign	Het
Tnks	A	T	8: 34,940,704	V290D	probably damaging	Het
Trrap	C	T	5: 144,833,186	P2740L	probably benign	Het
Ttc23	G	T	7: 67,678,897	L195F	probably damaging	Het
Tubb1	G	T	2: 174,457,448	G308C	probably damaging	Het
Vmn1r217	A	T	13: 23,114,640	F31I	probably benign	Het
Zp1	A	T	19: 10,914,461		probably benign	Het

Other mutations in Gm12185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gm12185	APN	11	48907222	missense	probably benign	0.01
IGL00495:Gm12185	APN	11	48907861	missense	probably damaging	0.99
IGL01763:Gm12185	APN	11	48915844	missense	probably benign	0.07
IGL01919:Gm12185	APN	11	48908059	missense	possibly damaging	0.90
IGL03388:Gm12185	APN	11	48908286	missense	probably benign	0.01
PIT4458001:Gm12185	UTSW	11	48907911	missense	probably damaging	1.00
R0347:Gm12185	UTSW	11	48915182	missense	probably benign	0.29
R0488:Gm12185	UTSW	11	48907839	missense	probably damaging	1.00
R1168:Gm12185	UTSW	11	48915355	missense	possibly damaging	0.60
R1223:Gm12185	UTSW	11	48907276	missense	probably damaging	0.98
R1417:Gm12185	UTSW	11	48907842	missense	probably damaging	1.00
R1468:Gm12185	UTSW	11	48915674	missense	possibly damaging	0.60
R1468:Gm12185	UTSW	11	48915674	missense	possibly damaging	0.60
R1519:Gm12185	UTSW	11	48907767	missense	probably damaging	1.00
R1558:Gm12185	UTSW	11	48915435	missense	probably damaging	0.99
R1630:Gm12185	UTSW	11	48907890	missense	probably benign	0.31
R1758:Gm12185	UTSW	11	48908032	missense	possibly damaging	0.82
R1793:Gm12185	UTSW	11	48915756	nonsense	probably null
R1908:Gm12185	UTSW	11	48915404	missense	probably benign	0.00
R1983:Gm12185	UTSW	11	48915356	missense	probably benign	0.01
R3917:Gm12185	UTSW	11	48915933	missense	probably benign	0.01
R3969:Gm12185	UTSW	11	48907345	missense	probably benign	0.03
R3970:Gm12185	UTSW	11	48907345	missense	probably benign	0.03
R4510:Gm12185	UTSW	11	48908478	missense	possibly damaging	0.84
R4511:Gm12185	UTSW	11	48908478	missense	possibly damaging	0.84
R4529:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4529:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4532:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4532:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4533:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4533:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4678:Gm12185	UTSW	11	48915540	missense	probably benign	0.05
R5094:Gm12185	UTSW	11	48907548	missense	probably benign	0.35
R5238:Gm12185	UTSW	11	48908217	missense	possibly damaging	0.92
R5306:Gm12185	UTSW	11	48915555	missense	probably benign	0.03
R5371:Gm12185	UTSW	11	48915739	missense	probably benign	0.01
R5995:Gm12185	UTSW	11	48915713	missense	probably benign	0.40
R6113:Gm12185	UTSW	11	48915340	missense	possibly damaging	0.47
R6147:Gm12185	UTSW	11	48915890	missense	probably benign
R6160:Gm12185	UTSW	11	48908428	nonsense	probably null
R6247:Gm12185	UTSW	11	48915908	missense	probably damaging	0.98
R6264:Gm12185	UTSW	11	48916175	missense	probably benign	0.01
R6748:Gm12185	UTSW	11	48916296	missense	possibly damaging	0.53
R6765:Gm12185	UTSW	11	48915704	missense	probably benign	0.12
R6970:Gm12185	UTSW	11	48907912	nonsense	probably null
R7028:Gm12185	UTSW	11	48908244	missense	possibly damaging	0.80
R7033:Gm12185	UTSW	11	48915999	missense	probably benign
R7512:Gm12185	UTSW	11	48915890	missense	probably benign
R7609:Gm12185	UTSW	11	48916023	missense	possibly damaging	0.82
R7673:Gm12185	UTSW	11	48907628	missense	probably benign	0.45
Z1176:Gm12185	UTSW	11	48908086	missense	not run
Z1177:Gm12185	UTSW	11	48916302	missense	not run

Posted On

2016-08-02