Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:4921539E11Rik'

294998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

103230445-103290863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103270746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 61 (I61F)

Ref Sequence

ENSEMBL: ENSMUSP00000095557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030245
AA Change: I61F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: I61F

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	443	6.1e-206	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097944
AA Change: I61F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: I61F

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	270	7.3e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168664

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	342	4.4e-183	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in 4921539E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:4921539E11Rik	APN	4	103235786	missense	possibly damaging	0.95
IGL00864:4921539E11Rik	APN	4	103235698	missense	probably damaging	1.00
IGL01951:4921539E11Rik	APN	4	103235668	missense	probably damaging	1.00
IGL02606:4921539E11Rik	APN	4	103242781	missense	probably benign	0.01
IGL03210:4921539E11Rik	APN	4	103284438	missense	probably benign	0.01
BB004:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
BB014:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R0441:4921539E11Rik	UTSW	4	103235492	intron	probably benign
R0455:4921539E11Rik	UTSW	4	103230983	missense	possibly damaging	0.69
R0504:4921539E11Rik	UTSW	4	103270860	splice site	probably benign
R0636:4921539E11Rik	UTSW	4	103231217	missense	probably damaging	1.00
R0766:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R0799:4921539E11Rik	UTSW	4	103242904	missense	possibly damaging	0.83
R1312:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R1713:4921539E11Rik	UTSW	4	103270767	missense	possibly damaging	0.92
R1783:4921539E11Rik	UTSW	4	103231089	missense	probably damaging	0.99
R1978:4921539E11Rik	UTSW	4	103270764	missense	possibly damaging	0.49
R3735:4921539E11Rik	UTSW	4	103266406	missense	probably damaging	1.00
R4821:4921539E11Rik	UTSW	4	103235674	missense	probably damaging	1.00
R5274:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5275:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5431:4921539E11Rik	UTSW	4	103270848	missense	probably benign	0.00
R5449:4921539E11Rik	UTSW	4	103266382	missense	probably benign
R6049:4921539E11Rik	UTSW	4	103231323	missense	probably benign	0.05
R6277:4921539E11Rik	UTSW	4	103231471	nonsense	probably null
R6518:4921539E11Rik	UTSW	4	103266411	missense	probably damaging	1.00
R6602:4921539E11Rik	UTSW	4	103255572	missense	probably benign	0.36
R6634:4921539E11Rik	UTSW	4	103236930	critical splice donor site	probably null
R6992:4921539E11Rik	UTSW	4	103242793	missense	possibly damaging	0.57
R7575:4921539E11Rik	UTSW	4	103230995	missense	probably damaging	1.00
R7927:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R8130:4921539E11Rik	UTSW	4	103235698	missense	probably damaging	1.00
R8461:4921539E11Rik	UTSW	4	103255515	missense	probably benign	0.01
R8714:4921539E11Rik	UTSW	4	103242896	missense	probably benign	0.10
R8798:4921539E11Rik	UTSW	4	103266377	start gained	probably benign
R9458:4921539E11Rik	UTSW	4	103284411	missense	possibly damaging	0.81
R9462:4921539E11Rik	UTSW	4	103235767	missense	probably benign	0.08
R9598:4921539E11Rik	UTSW	4	103231407	missense	probably benign	0.03
R9643:4921539E11Rik	UTSW	4	103235469	missense	unknown
R9709:4921539E11Rik	UTSW	4	103235481	missense	unknown

Posted On

2015-04-16