Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:4933427I04Rik'

306642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933427I04Rik

Ensembl Gene

ENSMUSG00000073761

Gene Name

Riken cDNA 4933427I04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

123753472-123756958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123754338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 84 (K84M)

Ref Sequence

ENSEMBL: ENSMUSP00000095506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097896]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097896
AA Change: K84M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137546

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,489 (GRCm39)	Y216*	probably null	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dolk	A	T	2: 30,174,743 (GRCm39)	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,157,607 (GRCm39)	D128G	probably damaging	Het
Or13a22	A	G	7: 140,072,614 (GRCm39)	E21G	probably benign	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Saxo4	T	C	19: 10,451,863 (GRCm39)	*428W	probably null	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	probably benign	Het

Other mutations in 4933427I04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:4933427I04Rik	APN	4	123,754,494 (GRCm39)	missense	probably benign	0.00
IGL02246:4933427I04Rik	APN	4	123,754,655 (GRCm39)	missense	probably damaging	0.99
PIT4494001:4933427I04Rik	UTSW	4	123,754,698 (GRCm39)	missense	probably benign
R0090:4933427I04Rik	UTSW	4	123,754,775 (GRCm39)	missense	possibly damaging	0.66
R0299:4933427I04Rik	UTSW	4	123,754,615 (GRCm39)	missense	possibly damaging	0.66
R0598:4933427I04Rik	UTSW	4	123,754,681 (GRCm39)	missense	possibly damaging	0.46
R1775:4933427I04Rik	UTSW	4	123,754,286 (GRCm39)	missense	possibly damaging	0.66
R2082:4933427I04Rik	UTSW	4	123,754,769 (GRCm39)	missense	probably benign	0.05
R4581:4933427I04Rik	UTSW	4	123,754,146 (GRCm39)	missense	possibly damaging	0.90
R4594:4933427I04Rik	UTSW	4	123,754,331 (GRCm39)	missense	possibly damaging	0.66
R4841:4933427I04Rik	UTSW	4	123,754,170 (GRCm39)	missense	probably benign	0.04
R6021:4933427I04Rik	UTSW	4	123,754,509 (GRCm39)	missense	possibly damaging	0.90
R6759:4933427I04Rik	UTSW	4	123,753,879 (GRCm39)	start gained	probably benign
R7660:4933427I04Rik	UTSW	4	123,754,512 (GRCm39)	missense	possibly damaging	0.66
R8553:4933427I04Rik	UTSW	4	123,754,327 (GRCm39)	missense	probably benign	0.03
R9333:4933427I04Rik	UTSW	4	123,754,416 (GRCm39)	missense	probably benign	0.00
R9399:4933427I04Rik	UTSW	4	123,754,413 (GRCm39)	nonsense	probably null
R9465:4933427I04Rik	UTSW	4	123,754,317 (GRCm39)	missense	possibly damaging	0.83
Z1176:4933427I04Rik	UTSW	4	123,754,668 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16