Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03153:4933430I17Rik'

411161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933430I17Rik

Ensembl Gene

ENSMUSG00000058046

Gene Name

RIKEN cDNA 4933430I17 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

62525369-62547993 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62547326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 419 (E419G)

Ref Sequence

ENSEMBL: ENSMUSP00000050465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062145]

AlphaFold

Q8BHW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062145
AA Change: E419G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: E419G

Domain	Start	End	E-Value	Type
Pfam:DUF4647	22	481	7.3e-182	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,974,765		probably benign	Het
Adam17	T	C	12: 21,345,697	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,531,897	R500*	probably null	Het
Aldh3a2	A	G	11: 61,258,839	Y234H	probably damaging	Het
Alpk3	A	G	7: 81,093,395	T987A	probably benign	Het
Amtn	A	G	5: 88,384,969	K148E	possibly damaging	Het
Asap1	G	A	15: 64,160,274	T237M	probably damaging	Het
Ccdc124	A	T	8: 70,868,929		probably null	Het
Cdon	T	C	9: 35,477,959	Y787H	probably damaging	Het
Coro7	A	G	16: 4,635,382		probably null	Het
Dram2	T	A	3: 106,555,174		probably benign	Het
Drd5	T	C	5: 38,319,781	V39A	probably benign	Het
Ern1	A	G	11: 106,410,098	L490P	possibly damaging	Het
Fat1	A	G	8: 45,030,123	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,866,267	I239T	probably damaging	Het
Klhl10	A	T	11: 100,456,932	T605S	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lgi4	G	T	7: 31,060,558	V60F	probably damaging	Het
Lin37	G	A	7: 30,557,160	R84W	probably damaging	Het
Lmf1	A	G	17: 25,585,650	S97G	possibly damaging	Het
Oasl2	A	G	5: 114,901,332	T194A	probably benign	Het
Olfr199	A	G	16: 59,216,203	S137P	probably benign	Het
Pnpo	A	T	11: 96,943,835	F12I	probably damaging	Het
Prdm4	T	C	10: 85,907,996	T132A	probably benign	Het
Ptbp2	T	C	3: 119,751,944	T118A	probably benign	Het
Ptf1a	T	A	2: 19,446,645		probably benign	Het
Rev3l	T	A	10: 39,806,878	F331I	probably damaging	Het
Rfx6	C	A	10: 51,723,121	S524*	probably null	Het
Scube3	A	G	17: 28,167,058	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,343,200	I257T	probably benign	Het
Spon1	A	T	7: 114,030,344	I408F	probably damaging	Het
Srpk1	C	A	17: 28,592,266	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,873,762	I1467F	probably damaging	Het
Tex33	T	C	15: 78,385,316	D188G	probably damaging	Het
Uggt1	A	C	1: 36,202,818	V345G	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,932	I287K	probably damaging	Het
Whamm	A	G	7: 81,589,532		probably benign	Het
Zeb1	A	G	18: 5,770,511	D888G	probably damaging	Het
Zfp263	A	G	16: 3,746,880	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,977,907	A19E	probably benign	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62532666	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62543744	splice site	probably null
IGL01526:4933430I17Rik	APN	4	62532621	missense	possibly damaging	0.71
IGL02152:4933430I17Rik	APN	4	62542754	missense	possibly damaging	0.93
R0281:4933430I17Rik	UTSW	4	62546067	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62543445	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62532341	missense	probably damaging	0.99
R1807:4933430I17Rik	UTSW	4	62542756	nonsense	probably null
R1930:4933430I17Rik	UTSW	4	62532282	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62538909	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62547311	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62538927	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62525869	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62532605	missense	possibly damaging	0.71
R7506:4933430I17Rik	UTSW	4	62532261	missense	possibly damaging	0.51
R7953:4933430I17Rik	UTSW	4	62532659	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62543741	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62532278	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62542679	missense	probably benign

Posted On

2016-08-02