Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01574:9530077C05Rik'

91193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9530077C05Rik

Ensembl Gene

ENSMUSG00000036411

Gene Name

RIKEN cDNA 9530077C05 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01574

Quality Score

Status

Chromosome

Chromosomal Location

22411513-22444681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22444130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 487 (V487A)

Ref Sequence

ENSEMBL: ENSMUSP00000062120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000058868] [ENSMUST00000215715] [ENSMUST00000216973]

AlphaFold

Q7TQE7

Predicted Effect

probably benign
Transcript: ENSMUST00000034763

SMART Domains

Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239

Domain	Start	End	E-Value	Type
low complexity region	19	28	N/A	INTRINSIC
ZnF_C2HC	96	114	5.17e0	SMART
low complexity region	161	213	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058868
AA Change: V487A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: V487A

Domain	Start	End	E-Value	Type
low complexity region	79	100	N/A	INTRINSIC
DUF1704	202	511	1.28e-137	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213598

Predicted Effect

probably benign
Transcript: ENSMUST00000215715

Predicted Effect

probably benign
Transcript: ENSMUST00000216973

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd26	T	G	6: 118,539,698	T502P	probably damaging	Het
Apoa4	C	A	9: 46,242,985	Q295K	probably benign	Het
Asxl3	T	G	18: 22,523,564	C1544G	probably benign	Het
Ccl7	G	A	11: 82,046,625	V62I	probably damaging	Het
Ceacam20	C	A	7: 19,974,322	T284K	possibly damaging	Het
Ces4a	A	T	8: 105,145,227		probably benign	Het
Col4a2	G	T	8: 11,439,306	G1147V	probably damaging	Het
Gtf3c4	T	C	2: 28,834,436	D428G	possibly damaging	Het
Itgb2	G	A	10: 77,557,964	V413I	possibly damaging	Het
Itgb7	T	G	15: 102,227,540	E20A	possibly damaging	Het
Kank2	C	A	9: 21,794,604	G373W	probably damaging	Het
Kif1a	T	A	1: 93,082,340	I28F	probably damaging	Het
Klhdc7b	T	C	15: 89,387,369	V818A	probably benign	Het
Klhl20	T	C	1: 161,093,726	Y53C	probably damaging	Het
Mroh1	A	G	15: 76,432,288	N772S	probably benign	Het
Mtmr4	C	T	11: 87,600,647	T146I	probably benign	Het
Nup210	C	T	6: 91,040,564	V1152I	probably benign	Het
Pclo	T	A	5: 14,713,448	D3978E	unknown	Het
Pkd1l3	T	C	8: 109,623,771	L416P	probably benign	Het
Pkn2	T	C	3: 142,839,231	M161V	possibly damaging	Het
Plxnb2	T	C	15: 89,162,683		probably null	Het
Polr2e	C	A	10: 80,039,633	D3Y	probably damaging	Het
Prss27	A	T	17: 24,038,371		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Tmem30c	T	A	16: 57,276,742	I152F	possibly damaging	Het
Usp2	G	A	9: 44,093,803	R378H	probably damaging	Het
Vmn2r106	A	T	17: 20,268,310	I609N	possibly damaging	Het
Vmn2r51	T	A	7: 10,102,454	E133D	probably damaging	Het
Zkscan3	A	T	13: 21,394,091		probably benign	Het

Other mutations in 9530077C05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:9530077C05Rik	APN	9	22435164	missense	probably benign	0.00
IGL01666:9530077C05Rik	APN	9	22431698	missense	probably benign	0.08
IGL02111:9530077C05Rik	APN	9	22424179	missense	probably benign
IGL02310:9530077C05Rik	APN	9	22424428	missense	probably benign	0.01
IGL02638:9530077C05Rik	APN	9	22430479	nonsense	probably null
LCD18:9530077C05Rik	UTSW	9	22442083	intron	probably benign
R1239:9530077C05Rik	UTSW	9	22424699	intron	probably benign
R1519:9530077C05Rik	UTSW	9	22430375	missense	probably benign	0.01
R2248:9530077C05Rik	UTSW	9	22444114	missense	probably benign	0.36
R2438:9530077C05Rik	UTSW	9	22431683	missense	probably damaging	0.99
R4838:9530077C05Rik	UTSW	9	22424377	missense	probably damaging	0.98
R5304:9530077C05Rik	UTSW	9	22424232	missense	probably benign	0.28
R5418:9530077C05Rik	UTSW	9	22431770	missense	probably damaging	1.00
R5460:9530077C05Rik	UTSW	9	22439920	missense	probably benign	0.01
R5652:9530077C05Rik	UTSW	9	22424490	missense	probably benign	0.00
R6008:9530077C05Rik	UTSW	9	22424126	nonsense	probably null
R8334:9530077C05Rik	UTSW	9	22444118	missense	probably benign	0.26
R9474:9530077C05Rik	UTSW	9	22431719	missense	probably damaging	0.99
R9640:9530077C05Rik	UTSW	9	22439932	missense	possibly damaging	0.62

Posted On

2013-12-09