Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

42094879-42097526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42096398 bp (GRCm39)

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
Apol7c	A	G	15: 77,410,500 (GRCm39)	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,230,133 (GRCm39)	R1235*	probably null	Het
Bpifb4	A	G	2: 153,786,703 (GRCm39)	D285G	probably damaging	Het
Cep192	T	A	18: 67,986,043 (GRCm39)	H1682Q	possibly damaging	Het
Cerk	G	T	15: 86,033,552 (GRCm39)	Y290*	probably null	Het
Cyld	A	T	8: 89,467,998 (GRCm39)	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,227,528 (GRCm39)	S134P	possibly damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Ephb4	A	G	5: 137,364,003 (GRCm39)		probably benign	Het
Fcgr3	A	T	1: 170,886,849 (GRCm39)	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,871,245 (GRCm39)	I83V	probably benign	Het
Hormad1	T	A	3: 95,485,608 (GRCm39)	N265K	possibly damaging	Het
Kpna1	A	G	16: 35,840,562 (GRCm39)	T201A	probably benign	Het
Krt6b	T	A	15: 101,587,549 (GRCm39)	T182S	probably damaging	Het
Macc1	A	G	12: 119,414,088 (GRCm39)	K755E	probably damaging	Het
Med12l	C	T	3: 59,169,314 (GRCm39)	T1568M	probably damaging	Het
Muc4	G	T	16: 32,581,722 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,960,770 (GRCm39)	S1028P	unknown	Het
Nhlrc2	C	T	19: 56,559,282 (GRCm39)	R256C	probably benign	Het
Or4c123	T	A	2: 89,127,471 (GRCm39)	T48S	probably benign	Het
Or5a3	G	A	19: 12,399,736 (GRCm39)	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,828,202 (GRCm39)	R79H	probably damaging	Het
Piezo2	T	C	18: 63,315,904 (GRCm39)		probably benign	Het
Pramel5	C	T	4: 144,000,429 (GRCm39)	R49H	probably benign	Het
Ralgapb	T	A	2: 158,304,079 (GRCm39)	S613T	possibly damaging	Het
Ryr1	T	C	7: 28,778,022 (GRCm39)	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 32,979,153 (GRCm39)	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,317,770 (GRCm39)	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,119,147 (GRCm39)	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,022,543 (GRCm39)	D601G	probably damaging	Het
Zfp1007	A	C	5: 109,825,182 (GRCm39)	Y89*	probably null	Het

Other mutations in 4933421I07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:4933421I07Rik	APN	7	42,097,123 (GRCm39)	missense	probably benign
IGL01918:4933421I07Rik	APN	7	42,097,098 (GRCm39)	missense	probably benign	0.39
IGL02514:4933421I07Rik	APN	7	42,096,981 (GRCm39)	missense	probably damaging	0.99
R1330:4933421I07Rik	UTSW	7	42,097,018 (GRCm39)	missense	probably benign	0.19
R2219:4933421I07Rik	UTSW	7	42,095,769 (GRCm39)	missense	probably damaging	1.00
R4779:4933421I07Rik	UTSW	7	42,097,455 (GRCm39)	missense	possibly damaging	0.92
R4952:4933421I07Rik	UTSW	7	42,097,083 (GRCm39)	missense	possibly damaging	0.59
R6026:4933421I07Rik	UTSW	7	42,095,708 (GRCm39)	missense	probably benign	0.06
R6141:4933421I07Rik	UTSW	7	42,097,483 (GRCm39)	missense	probably damaging	1.00
R6332:4933421I07Rik	UTSW	7	42,095,667 (GRCm39)	missense	possibly damaging	0.60
R6892:4933421I07Rik	UTSW	7	42,095,831 (GRCm39)	missense	probably benign	0.35
R7284:4933421I07Rik	UTSW	7	42,097,404 (GRCm39)	missense	probably damaging	1.00
R8684:4933421I07Rik	UTSW	7	42,097,413 (GRCm39)	missense	probably benign	0.07

Posted On

2014-01-21