Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01653:4933421I07Rik'

102872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933421I07Rik

Ensembl Gene

ENSMUSG00000030463

Gene Name

RIKEN cDNA 4933421I07 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

42445462-42448120 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42446974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000032648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032648]

AlphaFold

Q9D420

Predicted Effect

probably damaging
Transcript: ENSMUST00000032648
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032648
Gene: ENSMUSG00000030463
AA Change: D119G

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	68	160	2.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206593

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,677,316	Y89*	probably null	Het
Apol7c	A	G	15: 77,526,300	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,159,908	R1235*	probably null	Het
Bpifb4	A	G	2: 153,944,783	D285G	probably damaging	Het
Cep192	T	A	18: 67,852,972	H1682Q	possibly damaging	Het
Cerk	G	T	15: 86,149,351	Y290*	probably null	Het
Cyld	A	T	8: 88,741,370	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,505,571	S134P	possibly damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ephb4	A	G	5: 137,365,741		probably benign	Het
Fcgr3	A	T	1: 171,059,280	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,144,617	I83V	probably benign	Het
Hormad1	T	A	3: 95,578,297	N265K	possibly damaging	Het
Kpna1	A	G	16: 36,020,192	T201A	probably benign	Het
Krt6b	T	A	15: 101,679,114	T182S	probably damaging	Het
Macc1	A	G	12: 119,450,353	K755E	probably damaging	Het
Med12l	C	T	3: 59,261,893	T1568M	probably damaging	Het
Muc4	G	T	16: 32,761,348		probably null	Het
Myt1l	T	C	12: 29,910,771	S1028P	unknown	Het
Nhlrc2	C	T	19: 56,570,850	R256C	probably benign	Het
Olfr1230	T	A	2: 89,297,127	T48S	probably benign	Het
Olfr1441	G	A	19: 12,422,372	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,999,134	R79H	probably damaging	Het
Piezo2	T	C	18: 63,182,833		probably benign	Het
Pramel5	C	T	4: 144,273,859	R49H	probably benign	Het
Ralgapb	T	A	2: 158,462,159	S613T	possibly damaging	Het
Ryr1	T	C	7: 29,078,597	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 33,279,728	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,668,022	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,228,321	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,295,232	D601G	probably damaging	Het

Other mutations in 4933421I07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:4933421I07Rik	APN	7	42447699	missense	probably benign
IGL01918:4933421I07Rik	APN	7	42447674	missense	probably benign	0.39
IGL02514:4933421I07Rik	APN	7	42447557	missense	probably damaging	0.99
R1330:4933421I07Rik	UTSW	7	42447594	missense	probably benign	0.19
R2219:4933421I07Rik	UTSW	7	42446345	missense	probably damaging	1.00
R4779:4933421I07Rik	UTSW	7	42448031	missense	possibly damaging	0.92
R4952:4933421I07Rik	UTSW	7	42447659	missense	possibly damaging	0.59
R6026:4933421I07Rik	UTSW	7	42446284	missense	probably benign	0.06
R6141:4933421I07Rik	UTSW	7	42448059	missense	probably damaging	1.00
R6332:4933421I07Rik	UTSW	7	42446243	missense	possibly damaging	0.60
R6892:4933421I07Rik	UTSW	7	42446407	missense	probably benign	0.35
R7284:4933421I07Rik	UTSW	7	42447980	missense	probably damaging	1.00
R8684:4933421I07Rik	UTSW	7	42447989	missense	probably benign	0.07

Posted On

2014-01-21