Mutagenetix > Incidental Mutations

Incidental Mutation 'R2354:4930444G20Rik'

246836

Institutional Source

Beutler Lab

Gene Symbol

4930444G20Rik

Ensembl Gene

ENSMUSG00000069712

Gene Name

RIKEN cDNA 4930444G20 gene

Synonyms

MMRRC Submission

040336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2354 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22066307-22068079 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22067256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 275 (T275K)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092672]

AlphaFold

D3Z741

Predicted Effect

probably benign
Transcript: ENSMUST00000092672
AA Change: T275K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: T275K

Domain	Start	End	E-Value	Type
low complexity region	194	205	N/A	INTRINSIC
Pfam:Peptidase_C48	315	494	1.9e-45	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,473,850		probably benign	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bpifb9b	C	T	2: 154,311,742	L243F	probably benign	Het
Cd226	A	T	18: 89,246,983		probably null	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cep295	A	G	9: 15,334,784	I792T	possibly damaging	Het
Cfap46	T	C	7: 139,661,046	Y469C	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
D630045J12Rik	G	A	6: 38,158,091	P1385S	possibly damaging	Het
Ddb1	A	T	19: 10,606,973	M64L	probably benign	Het
Dyrk1b	G	A	7: 28,185,372	R404Q	possibly damaging	Het
Gal3st2b	A	G	1: 93,939,786	T52A	probably damaging	Het
Galk2	C	A	2: 125,931,273	S208R	probably benign	Het
Gm6169	G	A	13: 97,098,801	T146I	probably damaging	Het
Hap1	A	T	11: 100,354,715	I141N	probably damaging	Het
Hif3a	T	C	7: 17,041,105	S523G	probably damaging	Het
Kirrel	C	T	3: 87,088,485	V381I	probably damaging	Het
Lmbrd1	T	C	1: 24,685,541	S69P	probably damaging	Het
Lrriq1	C	T	10: 103,189,987	V925M	probably damaging	Het
Mmp16	A	G	4: 18,112,001	Y459C	probably damaging	Het
Mtr	A	G	13: 12,188,157		probably benign	Het
Nadk2	T	A	15: 9,085,782	I167N	probably damaging	Het
Neo1	A	G	9: 58,985,634	F242L	probably benign	Het
Pitpnm2	A	T	5: 124,122,919	V1010E	probably damaging	Het
Shox2	A	G	3: 66,981,489	I23T	possibly damaging	Het
Slc5a12	T	C	2: 110,609,432	V141A	probably damaging	Het
Sstr5	A	G	17: 25,491,901	I118T	probably benign	Het
Taar4	A	G	10: 23,961,014	N174S	probably damaging	Het
Tpcn2	C	A	7: 145,257,218	G581W	probably damaging	Het
Umod	C	T	7: 119,466,193	V538M	probably damaging	Het
Vmn2r44	T	G	7: 8,370,640	S517R	probably damaging	Het
Zc3h12d	G	T	10: 7,867,938	V491L	probably benign	Het
Zfp358	A	T	8: 3,495,454	H12L	possibly damaging	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in 4930444G20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02001:4930444G20Rik	APN	10	22067277	missense	probably benign	0.01
IGL02546:4930444G20Rik	APN	10	22066927	missense	probably damaging	1.00
IGL02885:4930444G20Rik	APN	10	22067158	missense	possibly damaging	0.94
R0543:4930444G20Rik	UTSW	10	22066924	missense	possibly damaging	0.88
R1762:4930444G20Rik	UTSW	10	22067512	missense	probably benign	0.02
R2249:4930444G20Rik	UTSW	10	22067116	missense	possibly damaging	0.77
R2870:4930444G20Rik	UTSW	10	22067379	missense	probably benign
R2870:4930444G20Rik	UTSW	10	22067379	missense	probably benign
R3777:4930444G20Rik	UTSW	10	22066962	missense	probably damaging	1.00
R4117:4930444G20Rik	UTSW	10	22067716	missense	probably benign
R4644:4930444G20Rik	UTSW	10	22066761	missense	probably benign	0.02
R5002:4930444G20Rik	UTSW	10	22067817	missense	probably damaging	0.99
R5667:4930444G20Rik	UTSW	10	22066843	missense	possibly damaging	0.91
R5671:4930444G20Rik	UTSW	10	22066843	missense	possibly damaging	0.91
R6694:4930444G20Rik	UTSW	10	22067721	missense	probably damaging	0.99
R6810:4930444G20Rik	UTSW	10	22066717	missense	probably damaging	1.00
R6923:4930444G20Rik	UTSW	10	22067755	missense	probably damaging	1.00
R6942:4930444G20Rik	UTSW	10	22067261	missense	probably benign
R7065:4930444G20Rik	UTSW	10	22067298	missense	probably benign	0.00
R7204:4930444G20Rik	UTSW	10	22067886	missense	probably damaging	1.00
R8778:4930444G20Rik	UTSW	10	22067457	missense	probably damaging	0.99
R9403:4930444G20Rik	UTSW	10	22067941	missense	possibly damaging	0.65
R9416:4930444G20Rik	UTSW	10	22067853	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTAAAGACATGCAGAGCCGG -3'
(R):5'- AGTGCTGTTCTGAGGAGAAATG -3'

Sequencing Primer
(F):5'- GGTTTTCATTTCTCTCAACCAGAAGG -3'
(R):5'- CTGTTCTGAGGAGAAATGTGTTACAG -3'

Posted On

2014-10-30