Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00909:4931429L15Rik'

28137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4931429L15Rik

Ensembl Gene

ENSMUSG00000056617

Gene Name

RIKEN cDNA 4931429L15 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00909

Quality Score

Status

Chromosome

Chromosomal Location

46214659-46231284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46220250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 94 (D94V)

Ref Sequence

ENSEMBL: ENSMUSP00000128017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]

AlphaFold

E9PVU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159565
AA Change: D94V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: D94V

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160795

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172280
AA Change: D94V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: D94V

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

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
Adamts20	T	C	15: 94,277,694 (GRCm39)	Y256C	probably damaging	Het
Ajm1	A	G	2: 25,469,419 (GRCm39)	L164P	probably damaging	Het
Ampd1	A	C	3: 102,995,744 (GRCm39)	D218A	probably benign	Het
Arcn1	T	C	9: 44,662,651 (GRCm39)	N332D	probably damaging	Het
Arpp21	T	A	9: 112,005,191 (GRCm39)	I219F	probably damaging	Het
Bicra	A	T	7: 15,730,502 (GRCm39)	D5E	possibly damaging	Het
Birc2	A	C	9: 7,833,666 (GRCm39)	W272G	probably damaging	Het
Cd2ap	A	T	17: 43,141,005 (GRCm39)		probably benign	Het
Celsr1	G	A	15: 85,806,436 (GRCm39)	R974W	probably damaging	Het
Col4a2	A	C	8: 11,498,167 (GRCm39)	T1659P	possibly damaging	Het
Coq9	C	T	8: 95,578,530 (GRCm39)	L215F	possibly damaging	Het
Cped1	A	G	6: 22,122,426 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,430,282 (GRCm39)	D64V	probably damaging	Het
Gga3	T	A	11: 115,482,567 (GRCm39)	R105W	probably damaging	Het
Hmcn1	C	T	1: 150,514,620 (GRCm39)	R3584Q	probably benign	Het
Hs6st3	T	A	14: 119,376,446 (GRCm39)	L207Q	probably damaging	Het
Ift43	A	G	12: 86,208,807 (GRCm39)	E141G	probably damaging	Het
Mrps31	T	G	8: 22,917,841 (GRCm39)	F287V	probably damaging	Het
Naca	A	G	10: 127,877,551 (GRCm39)		probably benign	Het
Nrf1	C	T	6: 30,098,477 (GRCm39)	T135M	probably damaging	Het
Or5p81	A	G	7: 108,266,907 (GRCm39)	I95V	possibly damaging	Het
Pfas	A	T	11: 68,894,640 (GRCm39)	Y8*	probably null	Het
Ppip5k1	G	A	2: 121,177,839 (GRCm39)	R323W	probably damaging	Het
Rasal1	A	G	5: 120,802,872 (GRCm39)	E376G	probably damaging	Het
Rfc1	A	G	5: 65,437,042 (GRCm39)	L546P	probably benign	Het
Rheb	A	T	5: 25,012,073 (GRCm39)	I129N	probably damaging	Het
Scpep1	A	T	11: 88,843,303 (GRCm39)	F52I	probably damaging	Het
Six2	A	T	17: 85,995,319 (GRCm39)	L21Q	probably damaging	Het
Slit1	G	T	19: 41,590,694 (GRCm39)	T1326K	possibly damaging	Het
Spata2l	T	C	8: 123,960,716 (GRCm39)	D191G	possibly damaging	Het
Susd4	C	A	1: 182,719,552 (GRCm39)	A389D	probably damaging	Het
Tcaf2	A	T	6: 42,601,510 (GRCm39)	F850I	probably damaging	Het
Teddm1b	T	C	1: 153,750,391 (GRCm39)	S67P	probably damaging	Het
Tiparp	T	A	3: 65,439,530 (GRCm39)	V100D	probably damaging	Het
Zdhhc14	A	G	17: 5,803,067 (GRCm39)	H390R	probably benign	Het

Other mutations in 4931429L15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01649:4931429L15Rik	APN	9	46,217,116 (GRCm39)	missense	probably benign	0.00
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R1496:4931429L15Rik	UTSW	9	46,221,552 (GRCm39)	unclassified	probably benign
R1971:4931429L15Rik	UTSW	9	46,220,086 (GRCm39)	missense	probably benign	0.00
R2139:4931429L15Rik	UTSW	9	46,215,593 (GRCm39)	missense	probably damaging	0.96
R4078:4931429L15Rik	UTSW	9	46,215,359 (GRCm39)	nonsense	probably null
R4780:4931429L15Rik	UTSW	9	46,220,144 (GRCm39)	missense	possibly damaging	0.90
R5088:4931429L15Rik	UTSW	9	46,217,038 (GRCm39)	missense	probably benign	0.00
R5138:4931429L15Rik	UTSW	9	46,218,119 (GRCm39)	critical splice donor site	probably null
R5419:4931429L15Rik	UTSW	9	46,220,624 (GRCm39)	critical splice donor site	probably null
R5734:4931429L15Rik	UTSW	9	46,215,303 (GRCm39)	unclassified	probably benign
R5739:4931429L15Rik	UTSW	9	46,220,717 (GRCm39)	missense	probably benign	0.27
R5907:4931429L15Rik	UTSW	9	46,218,120 (GRCm39)	missense	probably damaging	0.97
R6127:4931429L15Rik	UTSW	9	46,220,220 (GRCm39)	missense	probably damaging	1.00
R6564:4931429L15Rik	UTSW	9	46,218,202 (GRCm39)	missense	probably damaging	0.99
R7556:4931429L15Rik	UTSW	9	46,221,611 (GRCm39)	nonsense	probably null
R7818:4931429L15Rik	UTSW	9	46,215,519 (GRCm39)	missense	probably benign	0.01
R8894:4931429L15Rik	UTSW	9	46,216,397 (GRCm39)	missense	probably benign	0.24
R8962:4931429L15Rik	UTSW	9	46,220,173 (GRCm39)	missense	probably benign	0.01
X0024:4931429L15Rik	UTSW	9	46,220,267 (GRCm39)	small deletion	probably benign
Z1177:4931429L15Rik	UTSW	9	46,217,136 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-04-17