Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02896:4933402J07Rik'

363403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933402J07Rik

Ensembl Gene

ENSMUSG00000069971

Gene Name

RIKEN cDNA 4933402J07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02896

Quality Score

Status

Chromosome

Chromosomal Location

88290535-88315825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88315648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 246 (D246G)

Ref Sequence

ENSEMBL: ENSMUSP00000091033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093342]

AlphaFold

Q8BHX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000093342
AA Change: D246G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091033
Gene: ENSMUSG00000069971
AA Change: D246G

Domain	Start	End	E-Value	Type
Pfam:DUF4638	1	269	3e-125	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,875,991 (GRCm39)	S504P	probably damaging	Het
Adgrv1	A	T	13: 81,668,858 (GRCm39)	I2566K	probably damaging	Het
Als2	A	G	1: 59,222,946 (GRCm39)	V1108A	probably benign	Het
Atad2b	T	A	12: 5,008,151 (GRCm39)	F466I	probably damaging	Het
Cyp2a22	T	C	7: 26,635,886 (GRCm39)	M226V	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,326 (GRCm39)	D1023G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,205 (GRCm39)	I232V	probably benign	Het
Dolpp1	T	C	2: 30,286,242 (GRCm39)	S114P	probably damaging	Het
Fars2	T	A	13: 36,388,825 (GRCm39)	S105T	probably benign	Het
Fndc7	T	C	3: 108,770,247 (GRCm39)	I560V	probably benign	Het
Gcn1	T	C	5: 115,757,707 (GRCm39)		probably benign	Het
Gm5134	T	C	10: 75,810,058 (GRCm39)	L113P	possibly damaging	Het
Hipk2	G	T	6: 38,675,382 (GRCm39)	H1066Q	probably damaging	Het
Katnb1	A	G	8: 95,822,656 (GRCm39)		probably benign	Het
Lrrd1	T	A	5: 3,901,473 (GRCm39)	S593T	probably benign	Het
Mastl	T	C	2: 23,021,779 (GRCm39)	R713G	probably damaging	Het
Meak7	T	C	8: 120,489,164 (GRCm39)	D373G	probably damaging	Het
Mrgpra6	T	A	7: 46,838,655 (GRCm39)	D181V	probably benign	Het
Mroh7	C	T	4: 106,557,013 (GRCm39)	V828I	possibly damaging	Het
Nbeal2	A	G	9: 110,468,360 (GRCm39)		probably null	Het
Nckap5l	G	T	15: 99,325,091 (GRCm39)	Q471K	possibly damaging	Het
Or12j5	T	C	7: 140,083,968 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,459,217 (GRCm39)	L202F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,353 (GRCm39)	L224*	probably null	Het
Pfn4	A	G	12: 4,825,451 (GRCm39)	N96S	probably benign	Het
Ppp1r3c	G	A	19: 36,710,865 (GRCm39)	P302S	probably benign	Het
Senp2	T	G	16: 21,837,118 (GRCm39)	Y122*	probably null	Het
Slc5a7	C	A	17: 54,600,045 (GRCm39)	G123*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tent2	A	T	13: 93,304,945 (GRCm39)	N280K	probably damaging	Het
Th	C	T	7: 142,449,168 (GRCm39)	R289Q	probably damaging	Het
Tigit	C	T	16: 43,482,561 (GRCm39)	V58I	probably benign	Het
Ush1c	C	A	7: 45,847,839 (GRCm39)	V810L	probably benign	Het
Vmn2r120	C	A	17: 57,816,008 (GRCm39)	K782N	probably damaging	Het

Other mutations in 4933402J07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:4933402J07Rik	APN	8	88,312,727 (GRCm39)	missense	possibly damaging	0.92
R1755:4933402J07Rik	UTSW	8	88,315,585 (GRCm39)	missense	possibly damaging	0.73
R1848:4933402J07Rik	UTSW	8	88,295,121 (GRCm39)	nonsense	probably null
R2150:4933402J07Rik	UTSW	8	88,312,691 (GRCm39)	nonsense	probably null
R4832:4933402J07Rik	UTSW	8	88,294,601 (GRCm39)	missense	probably null	0.95
R5604:4933402J07Rik	UTSW	8	88,295,125 (GRCm39)	missense	possibly damaging	0.80
R6470:4933402J07Rik	UTSW	8	88,290,656 (GRCm39)	missense	probably benign	0.00
R7258:4933402J07Rik	UTSW	8	88,312,805 (GRCm39)	missense	probably damaging	0.99
R8464:4933402J07Rik	UTSW	8	88,315,649 (GRCm39)	missense	probably damaging	0.98
R8922:4933402J07Rik	UTSW	8	88,295,177 (GRCm39)	missense	possibly damaging	0.95
R9043:4933402J07Rik	UTSW	8	88,309,238 (GRCm39)	missense	possibly damaging	0.45
R9801:4933402J07Rik	UTSW	8	88,290,717 (GRCm39)	missense	probably damaging	0.98
Z1176:4933402J07Rik	UTSW	8	88,295,202 (GRCm39)	missense	probably benign	0.01
Z1177:4933402J07Rik	UTSW	8	88,312,745 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18