Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:A830010M20Rik'

301628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A830010M20Rik

Ensembl Gene

ENSMUSG00000111375

Gene Name

RIKEN cDNA A830010M20 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

107437997-107511207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107508556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 895 (V895A)

Ref Sequence

ENSEMBL: ENSMUSP00000108290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]

AlphaFold

D3YUB6
Q80TK0

Predicted Effect

probably benign
Transcript: ENSMUST00000060553

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100951
AA Change: V895A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: V895A

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC
Pfam:DUF4596	1195	1239	2.6e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112671
AA Change: V895A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: V895A

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133800

Predicted Effect

unknown
Transcript: ENSMUST00000143074
AA Change: V312A

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
AA Change: V312A

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152474

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375

Domain	Start	End	E-Value	Type
low complexity region	339	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160160

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211896
AA Change: V1407A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,430,479 (GRCm38)	K149*	probably null	Het
Alkbh3	T	A	2: 94,008,113 (GRCm38)	T38S	probably benign	Het
BC055324	G	A	1: 163,959,299 (GRCm38)	Q734*	probably null	Het
Cdkn2c	A	G	4: 109,665,012 (GRCm38)		probably benign	Het
Clca4b	A	C	3: 144,926,178 (GRCm38)	C189G	probably damaging	Het
Clec4f	T	A	6: 83,652,700 (GRCm38)	N292I	possibly damaging	Het
Dkk3	A	C	7: 112,149,027 (GRCm38)	S123R	probably benign	Het
Dock1	C	T	7: 135,146,480 (GRCm38)	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676 (GRCm38)	Q403*	probably null	Het
F5	G	A	1: 164,184,608 (GRCm38)		probably null	Het
Fam98c	T	A	7: 29,152,762 (GRCm38)	D326V	probably damaging	Het
Frem2	A	C	3: 53,551,346 (GRCm38)	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,231,579 (GRCm38)	G18D	probably damaging	Het
Gm8394	T	C	10: 85,313,834 (GRCm38)		noncoding transcript	Het
Grhl3	T	C	4: 135,556,865 (GRCm38)	E222G	probably benign	Het
Hif3a	A	C	7: 17,044,368 (GRCm38)		probably benign	Het
Ibtk	C	T	9: 85,719,893 (GRCm38)	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,484 (GRCm38)	N187S	probably benign	Het
Lrba	A	G	3: 86,325,073 (GRCm38)	T776A	probably damaging	Het
Mfhas1	T	A	8: 35,590,950 (GRCm38)	W860R	possibly damaging	Het
Mon2	A	C	10: 123,023,939 (GRCm38)	W811G	probably damaging	Het
Nupl2	A	G	5: 24,175,507 (GRCm38)	T167A	probably benign	Het
Olfr1062	T	C	2: 86,423,677 (GRCm38)		probably null	Het
Olfr1128	T	C	2: 87,544,749 (GRCm38)	Y265C	probably damaging	Het
Olfr1295	T	C	2: 111,564,904 (GRCm38)	D180G	probably damaging	Het
Olfr30	C	A	11: 58,455,047 (GRCm38)	A301S	probably damaging	Het
Olfr418	A	G	1: 173,270,331 (GRCm38)	D52G	probably benign	Het
Pgap2	T	C	7: 102,237,422 (GRCm38)	L217P	probably damaging	Het
Pik3c2b	T	G	1: 133,077,318 (GRCm38)		probably benign	Het
Ppfia3	T	A	7: 45,356,668 (GRCm38)	D149V	probably damaging	Het
Prkcb	C	T	7: 122,600,840 (GRCm38)		probably benign	Het
Prl	A	G	13: 27,061,579 (GRCm38)	D97G	probably benign	Het
Rnf112	T	C	11: 61,449,405 (GRCm38)		probably benign	Het
Slc17a8	C	A	10: 89,576,603 (GRCm38)	G323*	probably null	Het
Snx19	T	C	9: 30,432,364 (GRCm38)	F607L	possibly damaging	Het
Suco	A	G	1: 161,827,687 (GRCm38)	S1079P	probably damaging	Het
Taf5	T	C	19: 47,068,210 (GRCm38)	L149P	probably benign	Het
Taf6l	T	C	19: 8,775,266 (GRCm38)	M379V	probably benign	Het
Tcf25	T	C	8: 123,399,292 (GRCm38)	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,179,618 (GRCm38)	V102A	probably benign	Het
Tmc5	G	T	7: 118,627,233 (GRCm38)	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624 (GRCm38)	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,033,670 (GRCm38)	L127P	possibly damaging	Het
Usp24	A	C	4: 106,438,770 (GRCm38)		probably benign	Het
Usp24	C	A	4: 106,438,772 (GRCm38)		probably benign	Het
Usp43	T	G	11: 67,855,755 (GRCm38)	D1042A	probably benign	Het
Whrn	T	C	4: 63,419,472 (GRCm38)	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,954,716 (GRCm38)	I102T	probably benign	Het
Zfp763	T	C	17: 33,019,934 (GRCm38)	D79G	probably benign	Het
Zmat4	A	G	8: 23,797,373 (GRCm38)	Y45C	probably damaging	Het

Other mutations in A830010M20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:A830010M20Rik	APN	5	107,508,580 (GRCm38)	missense	probably damaging	1.00
IGL03001:A830010M20Rik	APN	5	107,497,842 (GRCm38)	missense	probably damaging	1.00
IGL03007:A830010M20Rik	APN	5	107,503,676 (GRCm38)	missense	probably benign	0.37
IGL03008:A830010M20Rik	APN	5	107,491,598 (GRCm38)	splice site	probably null
IGL03281:A830010M20Rik	APN	5	107,503,876 (GRCm38)	missense	probably benign	0.02
R0206:A830010M20Rik	UTSW	5	107,505,040 (GRCm38)	missense	probably benign	0.00
R0426:A830010M20Rik	UTSW	5	107,510,373 (GRCm38)	missense	probably damaging	1.00
R0765:A830010M20Rik	UTSW	5	107,506,934 (GRCm38)	missense	probably benign	0.14
R1747:A830010M20Rik	UTSW	5	107,451,999 (GRCm38)	missense	probably damaging	1.00
R2013:A830010M20Rik	UTSW	5	107,510,789 (GRCm38)	missense	probably damaging	0.99
R2338:A830010M20Rik	UTSW	5	107,510,574 (GRCm38)	missense	probably damaging	0.99
R3963:A830010M20Rik	UTSW	5	107,507,356 (GRCm38)	missense	probably damaging	0.99
R4460:A830010M20Rik	UTSW	5	107,503,765 (GRCm38)	missense	possibly damaging	0.74
R4776:A830010M20Rik	UTSW	5	107,510,451 (GRCm38)	missense	probably damaging	0.99
R4909:A830010M20Rik	UTSW	5	107,507,310 (GRCm38)	nonsense	probably null
R5105:A830010M20Rik	UTSW	5	107,510,471 (GRCm38)	missense	possibly damaging	0.70
R5155:A830010M20Rik	UTSW	5	107,490,703 (GRCm38)	missense	probably damaging	0.96
R6089:A830010M20Rik	UTSW	5	107,507,029 (GRCm38)	missense	probably damaging	0.99
R7282:A830010M20Rik	UTSW	5	107,510,505 (GRCm38)	missense	probably damaging	0.99
R7282:A830010M20Rik	UTSW	5	107,507,196 (GRCm38)	missense	probably benign
R7492:A830010M20Rik	UTSW	5	107,510,507 (GRCm38)	missense	probably benign	0.01
R8087:A830010M20Rik	UTSW	5	107,485,087 (GRCm38)	missense	probably damaging	1.00
R8694:A830010M20Rik	UTSW	5	107,510,769 (GRCm38)	missense	probably benign	0.02
R8777:A830010M20Rik	UTSW	5	107,510,427 (GRCm38)	missense	probably damaging	0.99
R8777-TAIL:A830010M20Rik	UTSW	5	107,510,427 (GRCm38)	missense	probably damaging	0.99
R8788:A830010M20Rik	UTSW	5	107,470,987 (GRCm38)	makesense	probably null
R9240:A830010M20Rik	UTSW	5	107,452,168 (GRCm38)	missense	probably benign	0.17
R9584:A830010M20Rik	UTSW	5	107,510,481 (GRCm38)	missense	probably benign	0.40

Posted On

2015-04-16