Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:AU018091'

51421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU018091

Ensembl Gene

ENSMUSG00000054753

Gene Name

expressed sequence AU018091

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

3204498-3219029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3212153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 190 (I190V)

Ref Sequence

ENSEMBL: ENSMUSP00000126800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]

AlphaFold

E9PWS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171749
AA Change: I190V

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: I190V

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	82	504	2.9e-47	PFAM
Pfam:AA_permease	86	481	3.5e-31	PFAM
transmembrane domain	541	563	N/A	INTRINSIC
transmembrane domain	573	593	N/A	INTRINSIC
Pfam:AA_permease_C	604	654	9.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203937

SMART Domains

Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	73	177	7.9e-11	PFAM
Pfam:AA_permease	77	176	3.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205185

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,148,870 (GRCm39)	L61*	probably null	Het
Abca7	T	C	10: 79,847,131 (GRCm39)	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,049,760 (GRCm39)	I393F	probably damaging	Het
Adamts5	A	G	16: 85,696,722 (GRCm39)	L145P	probably damaging	Het
Ano6	T	C	15: 95,846,310 (GRCm39)	I537T	probably damaging	Het
Camk1	T	A	6: 113,315,333 (GRCm39)	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,581 (GRCm39)	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,072,614 (GRCm39)	D537G	probably benign	Het
Col6a3	T	C	1: 90,730,054 (GRCm39)	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,021,929 (GRCm39)	E71D	probably benign	Het
Cps1	T	C	1: 67,234,325 (GRCm39)	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,553,958 (GRCm39)	F700I	probably damaging	Het
Dmp1	G	A	5: 104,354,965 (GRCm39)	M1I	probably null	Het
Efcab6	A	T	15: 83,938,713 (GRCm39)	M1K	probably null	Het
Extl2	A	T	3: 115,821,131 (GRCm39)	H312L	possibly damaging	Het
Fat4	C	A	3: 38,944,728 (GRCm39)	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518 (GRCm38)		probably benign	Het
Hdac10	G	T	15: 89,008,071 (GRCm39)	A593E	possibly damaging	Het
Hdhd2	T	C	18: 77,052,969 (GRCm39)		probably null	Het
Kcnq2	A	G	2: 180,751,582 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,142,064 (GRCm39)	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,833,642 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,296,651 (GRCm39)	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,243,287 (GRCm39)	F40I	probably damaging	Het
Or2y3	G	T	17: 38,393,544 (GRCm39)	S108R	possibly damaging	Het
Or5p55	A	T	7: 107,566,741 (GRCm39)	I46F	probably damaging	Het
Or6d13	T	A	6: 116,517,968 (GRCm39)	C185S	probably damaging	Het
Or6x1	A	T	9: 40,099,052 (GRCm39)	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,631,664 (GRCm39)	V322L	probably benign	Het
Ppfibp1	T	A	6: 146,931,195 (GRCm39)	M917K	probably benign	Het
Prkg2	C	T	5: 99,117,795 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,704,246 (GRCm39)	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,722,110 (GRCm39)	K292*	probably null	Het
Scamp3	C	A	3: 89,084,973 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,221,190 (GRCm39)	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,721,668 (GRCm39)	V1316A	probably damaging	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Stard8	G	T	X: 98,116,694 (GRCm39)	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,013,038 (GRCm39)	D311E	probably benign	Het
Tex21	T	C	12: 76,245,592 (GRCm39)	H568R	probably benign	Het
Tex35	T	C	1: 156,932,667 (GRCm39)		probably benign	Het
Tgs1	T	A	4: 3,591,292 (GRCm39)	F442I	possibly damaging	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het
Trim56	A	T	5: 137,143,354 (GRCm39)	V54D	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfp668	A	T	7: 127,465,454 (GRCm39)	C577S	probably damaging	Het

Other mutations in AU018091

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:AU018091	APN	7	3,208,603 (GRCm39)	missense	probably benign	0.01
IGL01598:AU018091	APN	7	3,212,110 (GRCm39)	missense	possibly damaging	0.71
IGL03253:AU018091	APN	7	3,214,002 (GRCm39)	missense	probably damaging	1.00
IGL03386:AU018091	APN	7	3,211,107 (GRCm39)	missense	probably damaging	1.00
IGL02835:AU018091	UTSW	7	3,218,897 (GRCm39)	missense	unknown
R0070:AU018091	UTSW	7	3,208,738 (GRCm39)	splice site	probably null
R0070:AU018091	UTSW	7	3,208,738 (GRCm39)	splice site	probably null
R0733:AU018091	UTSW	7	3,209,001 (GRCm39)	missense	probably damaging	1.00
R1221:AU018091	UTSW	7	3,208,717 (GRCm39)	missense	probably damaging	1.00
R1467:AU018091	UTSW	7	3,214,089 (GRCm39)	missense	probably benign	0.01
R1467:AU018091	UTSW	7	3,214,089 (GRCm39)	missense	probably benign	0.01
R1708:AU018091	UTSW	7	3,206,184 (GRCm39)	missense	probably damaging	1.00
R1990:AU018091	UTSW	7	3,212,104 (GRCm39)	missense	probably benign	0.25
R4043:AU018091	UTSW	7	3,208,962 (GRCm39)	missense	probably damaging	1.00
R4369:AU018091	UTSW	7	3,207,815 (GRCm39)	nonsense	probably null
R4501:AU018091	UTSW	7	3,208,919 (GRCm39)	missense	probably benign	0.25
R4595:AU018091	UTSW	7	3,208,268 (GRCm39)	missense	possibly damaging	0.91
R4853:AU018091	UTSW	7	3,205,861 (GRCm39)	missense	probably damaging	1.00
R6834:AU018091	UTSW	7	3,207,795 (GRCm39)	missense	probably benign	0.06
R6836:AU018091	UTSW	7	3,213,986 (GRCm39)	missense	probably damaging	1.00
R6941:AU018091	UTSW	7	3,209,267 (GRCm39)	critical splice donor site	probably null
R7153:AU018091	UTSW	7	3,209,353 (GRCm39)	missense	probably benign	0.01
R7196:AU018091	UTSW	7	3,213,788 (GRCm39)	missense	probably damaging	1.00
R7237:AU018091	UTSW	7	3,209,006 (GRCm39)	missense	probably benign	0.00
R7366:AU018091	UTSW	7	3,206,170 (GRCm39)	missense	probably damaging	1.00
R7956:AU018091	UTSW	7	3,211,095 (GRCm39)	missense	probably benign	0.02
R9421:AU018091	UTSW	7	3,208,085 (GRCm39)	missense	probably benign	0.12
R9492:AU018091	UTSW	7	3,214,023 (GRCm39)	missense	probably benign	0.02
R9700:AU018091	UTSW	7	3,208,165 (GRCm39)	missense	probably benign
R9720:AU018091	UTSW	7	3,209,272 (GRCm39)	missense	probably benign	0.12
R9796:AU018091	UTSW	7	3,213,785 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21