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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

62443606-62466230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62465563 bp (GRCm39)

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: 105,122,631 (GRCm39)		probably benign	Het
Adam17	T	C	12: 21,395,698 (GRCm39)	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,570,978 (GRCm39)	R500*	probably null	Het
Aldh3a2	A	G	11: 61,149,665 (GRCm39)	Y234H	probably damaging	Het
Alpk3	A	G	7: 80,743,143 (GRCm39)	T987A	probably benign	Het
Amtn	A	G	5: 88,532,828 (GRCm39)	K148E	possibly damaging	Het
Asap1	G	A	15: 64,032,123 (GRCm39)	T237M	probably damaging	Het
Ccdc124	A	T	8: 71,321,573 (GRCm39)		probably null	Het
Cdon	T	C	9: 35,389,255 (GRCm39)	Y787H	probably damaging	Het
Cimip4	T	C	15: 78,269,516 (GRCm39)	D188G	probably damaging	Het
Coro7	A	G	16: 4,453,246 (GRCm39)		probably null	Het
Dram2	T	A	3: 106,462,490 (GRCm39)		probably benign	Het
Drd5	T	C	5: 38,477,124 (GRCm39)	V39A	probably benign	Het
Ern1	A	G	11: 106,300,924 (GRCm39)	L490P	possibly damaging	Het
Fat1	A	G	8: 45,483,160 (GRCm39)	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,757,094 (GRCm39)	I239T	probably damaging	Het
Klhl10	A	T	11: 100,347,758 (GRCm39)	T605S	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lgi4	G	T	7: 30,759,983 (GRCm39)	V60F	probably damaging	Het
Lin37	G	A	7: 30,256,585 (GRCm39)	R84W	probably damaging	Het
Lmf1	A	G	17: 25,804,624 (GRCm39)	S97G	possibly damaging	Het
Oasl2	A	G	5: 115,039,393 (GRCm39)	T194A	probably benign	Het
Or5ac17	A	G	16: 59,036,566 (GRCm39)	S137P	probably benign	Het
Pnpo	A	T	11: 96,834,661 (GRCm39)	F12I	probably damaging	Het
Prdm4	T	C	10: 85,743,860 (GRCm39)	T132A	probably benign	Het
Ptbp2	T	C	3: 119,545,593 (GRCm39)	T118A	probably benign	Het
Ptf1a	T	A	2: 19,451,456 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,682,874 (GRCm39)	F331I	probably damaging	Het
Rfx6	C	A	10: 51,599,217 (GRCm39)	S524*	probably null	Het
Scube3	A	G	17: 28,386,032 (GRCm39)	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,254,496 (GRCm39)	I257T	probably benign	Het
Spon1	A	T	7: 113,629,579 (GRCm39)	I408F	probably damaging	Het
Srpk1	C	A	17: 28,811,240 (GRCm39)	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,522,969 (GRCm39)	I1467F	probably damaging	Het
Uggt1	A	C	1: 36,241,899 (GRCm39)	V345G	possibly damaging	Het
Vmn1r23	A	T	6: 57,902,917 (GRCm39)	I287K	probably damaging	Het
Whamm	A	G	7: 81,239,280 (GRCm39)		probably benign	Het
Zeb1	A	G	18: 5,770,511 (GRCm39)	D888G	probably damaging	Het
Zfp263	A	G	16: 3,564,744 (GRCm39)	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,711,834 (GRCm39)	A19E	probably benign	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62,450,903 (GRCm39)	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62,461,981 (GRCm39)	splice site	probably null
IGL01526:4933430I17Rik	APN	4	62,450,858 (GRCm39)	missense	possibly damaging	0.71
IGL02152:4933430I17Rik	APN	4	62,460,991 (GRCm39)	missense	possibly damaging	0.93
R0281:4933430I17Rik	UTSW	4	62,464,304 (GRCm39)	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62,461,682 (GRCm39)	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62,450,578 (GRCm39)	missense	probably damaging	0.99
R1807:4933430I17Rik	UTSW	4	62,460,993 (GRCm39)	nonsense	probably null
R1930:4933430I17Rik	UTSW	4	62,450,519 (GRCm39)	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62,457,146 (GRCm39)	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62,465,548 (GRCm39)	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62,457,164 (GRCm39)	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62,444,106 (GRCm39)	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62,450,842 (GRCm39)	missense	possibly damaging	0.71
R7506:4933430I17Rik	UTSW	4	62,450,498 (GRCm39)	missense	possibly damaging	0.51
R7953:4933430I17Rik	UTSW	4	62,450,896 (GRCm39)	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62,461,978 (GRCm39)	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62,461,022 (GRCm39)	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62,461,022 (GRCm39)	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62,450,515 (GRCm39)	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62,460,916 (GRCm39)	missense	probably benign

Posted On

2016-08-02