Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02137:4930595M18Rik'

281353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930595M18Rik

Ensembl Gene

ENSMUSG00000060673

Gene Name

RIKEN cDNA 4930595M18 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL02137

Quality Score

Status

Chromosome

Chromosomal Location

80463181-80501727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80501262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000078984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080083]

AlphaFold

A2RRY9

Predicted Effect

probably benign
Transcript: ENSMUST00000080083
AA Change: D116G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078984
Gene: ENSMUSG00000060673
AA Change: D116G

Domain	Start	End	E-Value	Type
RRM	15	88	4.42e-16	SMART
low complexity region	180	209	N/A	INTRINSIC
low complexity region	312	320	N/A	INTRINSIC
low complexity region	636	669	N/A	INTRINSIC
RING	775	815	2.12e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	G	T	2: 91,034,028 (GRCm39)	G66V	probably damaging	Het
Adam32	C	T	8: 25,362,610 (GRCm39)	G605D	probably damaging	Het
Adam4	T	C	12: 81,467,877 (GRCm39)	D248G	possibly damaging	Het
Adamts15	C	A	9: 30,821,956 (GRCm39)	G494W	probably damaging	Het
Arfgef1	A	T	1: 10,283,338 (GRCm39)	N190K	probably damaging	Het
Bach2	C	T	4: 32,501,621 (GRCm39)		probably benign	Het
Bloc1s1	T	C	10: 128,758,517 (GRCm39)		probably benign	Het
Casz1	G	T	4: 149,017,925 (GRCm39)	A405S	possibly damaging	Het
Cplx4	T	C	18: 66,090,125 (GRCm39)	D98G	probably benign	Het
Dync2h1	T	C	9: 7,134,349 (GRCm39)	N1553D	probably benign	Het
Erich5	G	A	15: 34,470,900 (GRCm39)	C43Y	probably damaging	Het
Exosc10	A	C	4: 148,645,590 (GRCm39)	R123S	probably damaging	Het
Hoatz	T	C	9: 50,997,408 (GRCm39)		probably benign	Het
Inpp5f	T	C	7: 128,296,853 (GRCm39)	V377A	probably damaging	Het
Lrp1b	T	C	2: 40,620,700 (GRCm39)		probably benign	Het
Mrps17	G	A	5: 129,793,847 (GRCm39)	V14M	probably benign	Het
Mtrr	G	A	13: 68,716,920 (GRCm39)	S431F	possibly damaging	Het
Myo5a	T	C	9: 75,068,817 (GRCm39)		probably null	Het
Nsfl1c	T	A	2: 151,351,509 (GRCm39)	I291N	probably damaging	Het
Ntsr1	T	A	2: 180,180,628 (GRCm39)		probably null	Het
Or4n4	T	C	14: 50,519,135 (GRCm39)	T192A	probably benign	Het
Park7	T	C	4: 150,988,288 (GRCm39)	I102M	probably benign	Het
Pik3c2a	T	A	7: 115,950,039 (GRCm39)	Q1326L	probably benign	Het
Rapgef3	T	C	15: 97,648,025 (GRCm39)	D693G	probably benign	Het
Rep15	G	A	6: 146,934,845 (GRCm39)	R228H	probably benign	Het
Slc25a1	A	G	16: 17,745,234 (GRCm39)	V100A	probably benign	Het
Slc9a4	T	C	1: 40,640,059 (GRCm39)	F284L	possibly damaging	Het
Sox10	G	T	15: 79,043,393 (GRCm39)	D52E	probably benign	Het
St3gal5	C	A	6: 72,105,266 (GRCm39)	T6N	probably benign	Het
Tbc1d22a	A	G	15: 86,183,870 (GRCm39)	D243G	probably benign	Het
Tll1	T	C	8: 64,469,132 (GRCm39)	Y997C	possibly damaging	Het
Tmem8b	A	T	4: 43,689,434 (GRCm39)	H276L	probably benign	Het
Tnpo3	T	C	6: 29,609,450 (GRCm39)	Y12C	probably damaging	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Trav18	T	A	14: 54,069,192 (GRCm39)	M78K	probably benign	Het
Uba7	A	G	9: 107,856,952 (GRCm39)		probably benign	Het
Vmn1r167	A	T	7: 23,204,864 (GRCm39)	S51T	probably damaging	Het
Vmn1r83	A	T	7: 12,055,761 (GRCm39)	Y99N	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in 4930595M18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:4930595M18Rik	APN	X	80,464,544 (GRCm39)	missense	possibly damaging	0.53
IGL02966:4930595M18Rik	APN	X	80,463,317 (GRCm39)	missense	possibly damaging	0.93
R0883:4930595M18Rik	UTSW	X	80,464,537 (GRCm39)	missense	possibly damaging	0.72
R3683:4930595M18Rik	UTSW	X	80,463,841 (GRCm39)	missense	possibly damaging	0.85
R3792:4930595M18Rik	UTSW	X	80,464,423 (GRCm39)	missense	probably benign	0.33
Z1176:4930595M18Rik	UTSW	X	80,463,878 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16