Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00272:1700030J22Rik'

8423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700030J22Rik

Ensembl Gene

ENSMUSG00000031847

Gene Name

RIKEN cDNA 1700030J22 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL00272

Quality Score

Status

Chromosome

Chromosomal Location

117696333-117705698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117700279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Ref Sequence

ENSEMBL: ENSMUSP00000148789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070577] [ENSMUST00000213068]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070577
AA Change: V41A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847
AA Change: V41A

Domain	Start	End	E-Value	Type
Pfam:DUF4529	1	409	7.5e-188	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213068
AA Change: V41A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

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
Ankrd12	C	T	17: 66,293,169 (GRCm39)	V755I	probably benign	Het
Arrdc3	T	C	13: 81,038,691 (GRCm39)	S218P	probably damaging	Het
Bzw1	T	C	1: 58,442,101 (GRCm39)	V292A	possibly damaging	Het
Cers2	T	C	3: 95,229,211 (GRCm39)	Y228H	probably damaging	Het
Dnaaf6	A	G	X: 139,006,711 (GRCm39)	I197V	probably benign	Het
Egf	C	T	3: 129,505,098 (GRCm39)	M625I	probably benign	Het
Fbxw8	A	T	5: 118,206,162 (GRCm39)	H595Q	probably benign	Het
Fshr	T	A	17: 89,292,699 (GRCm39)	I660F	probably benign	Het
Gapdh	C	T	6: 125,139,470 (GRCm39)	V267M	probably damaging	Het
Ginm1	T	C	10: 7,668,460 (GRCm39)		probably benign	Het
Gja1	A	G	10: 56,264,418 (GRCm39)	D259G	probably benign	Het
Gm21814	T	A	6: 149,483,502 (GRCm39)		noncoding transcript	Het
Gm26870	T	C	9: 3,002,340 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,306,264 (GRCm39)	C482Y	probably damaging	Het
Knl1	A	C	2: 118,894,564 (GRCm39)	N79T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lats2	T	C	14: 57,929,026 (GRCm39)	T950A	probably benign	Het
Map2k2	T	A	10: 80,956,907 (GRCm39)	M95K	probably damaging	Het
Med12l	T	A	3: 58,949,757 (GRCm39)	I160N	probably damaging	Het
Or9m1b	A	G	2: 87,836,988 (GRCm39)	S45P	probably damaging	Het
Or9m2	A	T	2: 87,820,782 (GRCm39)	D109V	probably damaging	Het
Pes1	T	C	11: 3,926,803 (GRCm39)	S362P	probably damaging	Het
Ppp6r2	G	T	15: 89,170,016 (GRCm39)	A844S	probably benign	Het
Rnf130	A	G	11: 49,984,623 (GRCm39)	I308V	probably damaging	Het
Scn11a	T	C	9: 119,645,669 (GRCm39)	N95S	probably damaging	Het
Shoc1	A	G	4: 59,086,961 (GRCm39)	F284L	probably benign	Het
Skint2	A	G	4: 112,481,409 (GRCm39)	T91A	probably damaging	Het
Smg1	A	G	7: 117,797,494 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,015,148 (GRCm39)		probably null	Het
Stard10	A	T	7: 100,971,173 (GRCm39)	Y47F	probably damaging	Het
Tenm3	C	T	8: 48,870,095 (GRCm39)	V233I	probably damaging	Het
Tex14	G	A	11: 87,426,469 (GRCm39)	S1165N	probably damaging	Het
Unc5a	A	G	13: 55,143,633 (GRCm39)	I106V	probably benign	Het
Vps54	T	A	11: 21,227,909 (GRCm39)	Y275N	possibly damaging	Het
Wdr87-ps	G	T	7: 29,237,047 (GRCm39)		noncoding transcript	Het

Other mutations in 1700030J22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03197:1700030J22Rik	APN	8	117,698,541 (GRCm39)	missense	probably damaging	0.96
R1372:1700030J22Rik	UTSW	8	117,698,696 (GRCm39)	missense	possibly damaging	0.62
R2170:1700030J22Rik	UTSW	8	117,697,896 (GRCm39)	missense	probably damaging	1.00
R4893:1700030J22Rik	UTSW	8	117,697,904 (GRCm39)	missense	probably damaging	1.00
R5056:1700030J22Rik	UTSW	8	117,698,421 (GRCm39)	nonsense	probably null
R5089:1700030J22Rik	UTSW	8	117,698,672 (GRCm39)	missense	possibly damaging	0.55
R7380:1700030J22Rik	UTSW	8	117,700,376 (GRCm39)	missense	probably benign	0.25
R8935:1700030J22Rik	UTSW	8	117,698,181 (GRCm39)	missense	probably benign	0.05
R9241:1700030J22Rik	UTSW	8	117,697,937 (GRCm39)	missense	probably damaging	1.00
R9310:1700030J22Rik	UTSW	8	117,698,859 (GRCm39)	missense	possibly damaging	0.61
Z1176:1700030J22Rik	UTSW	8	117,700,336 (GRCm39)	missense	probably benign	0.08

Posted On

2012-12-06