Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03222:4921511C20Rik'

413676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4921511C20Rik

Ensembl Gene

ENSMUSG00000049815

Gene Name

RIKEN cDNA 4921511C20 gene

Synonyms

LOC245598

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03222

Quality Score

Status

Chromosome

Chromosomal Location

126301916-126303521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126303093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 344 (D344G)

Ref Sequence

ENSEMBL: ENSMUSP00000059542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051530]

AlphaFold

Q8BVT7

Predicted Effect

probably benign
Transcript: ENSMUST00000051530
AA Change: D344G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059542
Gene: ENSMUSG00000049815
AA Change: D344G

Domain	Start	End	E-Value	Type
KH	6	75	2.35e0	SMART
KH	79	177	4.11e-1	SMART
KH	178	244	2.48e-12	SMART
KH	256	326	1.1e-4	SMART
KH	330	398	1.11e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,951,737 (GRCm39)	L877Q	probably damaging	Het
Ctr9	T	C	7: 110,642,257 (GRCm39)	Y328H	probably benign	Het
Ebf2	A	G	14: 67,649,441 (GRCm39)		probably null	Het
Ebpl	A	G	14: 61,579,682 (GRCm39)		probably benign	Het
Efcab5	A	T	11: 77,028,193 (GRCm39)	D515E	probably benign	Het
Gon4l	A	G	3: 88,802,950 (GRCm39)	N1187S	possibly damaging	Het
Hmces	A	G	6: 87,902,674 (GRCm39)	R172G	probably damaging	Het
Ighv14-2	T	C	12: 113,958,114 (GRCm39)	D109G	possibly damaging	Het
Kcnn1	C	T	8: 71,300,843 (GRCm39)	R423H	probably damaging	Het
Muc13	T	C	16: 33,619,335 (GRCm39)	S28P	unknown	Het
Or5p70	A	T	7: 107,994,393 (GRCm39)	D22V	possibly damaging	Het
Or7e170	G	T	9: 19,795,495 (GRCm39)	Y35*	probably null	Het
Polg	T	C	7: 79,104,404 (GRCm39)	T824A	probably damaging	Het
Rapgef2	A	T	3: 78,995,302 (GRCm39)	V782D	probably damaging	Het
Rin2	T	A	2: 145,702,115 (GRCm39)	C270*	probably null	Het
Sdk2	C	A	11: 113,729,257 (GRCm39)	V1107L	probably benign	Het
Sema5a	T	A	15: 32,628,304 (GRCm39)	V539E	probably benign	Het
Tiam2	T	C	17: 3,488,983 (GRCm39)	S764P	probably damaging	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	probably damaging	Het
Ttn	T	C	2: 76,586,083 (GRCm39)	T21883A	probably damaging	Het
Xkr5	T	C	8: 18,987,315 (GRCm39)	T117A	probably damaging	Het
Xkr9	T	A	1: 13,771,505 (GRCm39)	Y340*	probably null	Het

Other mutations in 4921511C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:4921511C20Rik	APN	X	126,303,196 (GRCm39)	missense	probably benign	0.00
IGL02456:4921511C20Rik	APN	X	126,302,584 (GRCm39)	nonsense	probably null
IGL02565:4921511C20Rik	APN	X	126,302,677 (GRCm39)	missense	probably benign	0.16
IGL03246:4921511C20Rik	APN	X	126,303,238 (GRCm39)	missense	probably benign	0.41
IGL03299:4921511C20Rik	APN	X	126,303,476 (GRCm39)	utr 3 prime	probably benign
Z1176:4921511C20Rik	UTSW	X	126,302,465 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02