Mutagenetix > Incidental Mutation

Incidental Mutation 'R6626:4930556J24Rik'

524815

Institutional Source

Beutler Lab

Gene Symbol

4930556J24Rik

Ensembl Gene

ENSMUSG00000034493

Gene Name

RIKEN cDNA 4930556J24 gene

Synonyms

MMRRC Submission

044748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R6626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3887541-3926778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3888056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 110 (H110R)

Ref Sequence

ENSEMBL: ENSMUSP00000048953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042344]

AlphaFold

Q9D4U7

Predicted Effect

unknown
Transcript: ENSMUST00000042344
AA Change: H110R

SMART Domains

Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493
AA Change: H110R

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	84	93	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Ank1	T	A	8: 23,465,207 (GRCm39)	L19H	probably damaging	Het
Bcl9	C	T	3: 97,122,712 (GRCm39)	R29H	probably benign	Het
Boc	A	T	16: 44,340,803 (GRCm39)	I49N	possibly damaging	Het
C8a	T	C	4: 104,703,164 (GRCm39)	I298V	probably benign	Het
Cacna1s	T	C	1: 136,022,703 (GRCm39)	S879P	probably damaging	Het
Cacna2d3	T	C	14: 28,786,143 (GRCm39)		probably benign	Het
Dnm1	A	G	2: 32,230,892 (GRCm39)	I63T	probably damaging	Het
Flnb	C	T	14: 7,929,012 (GRCm38)	R1914C	probably damaging	Het
Gm9493	A	T	19: 23,597,209 (GRCm39)	K35M	possibly damaging	Het
Gpld1	T	C	13: 25,163,953 (GRCm39)	S552P	probably damaging	Het
Hacd1	T	A	2: 14,031,755 (GRCm39)	I243F	probably benign	Het
Klhdc4	A	G	8: 122,546,901 (GRCm39)	V110A	probably benign	Het
Krt26	C	T	11: 99,220,528 (GRCm39)	V441M	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Nav2	A	G	7: 49,244,100 (GRCm39)	Y2109C	probably damaging	Het
Ncbp3	T	A	11: 72,964,210 (GRCm39)	S387T	possibly damaging	Het
Notch2	T	G	3: 98,008,921 (GRCm39)	V513G	probably damaging	Het
Nt5c1b	A	T	12: 10,424,837 (GRCm39)	R128*	probably null	Het
Olig2	T	C	16: 91,024,044 (GRCm39)	S253P	unknown	Het
Or6b1	A	G	6: 42,815,582 (GRCm39)	M256V	probably benign	Het
Or8g17	A	G	9: 38,930,402 (GRCm39)	V145A	possibly damaging	Het
Or8k53	C	T	2: 86,177,364 (GRCm39)	V249I	possibly damaging	Het
Phkb	T	A	8: 86,648,780 (GRCm39)	F199I	probably damaging	Het
Rnf17	A	G	14: 56,665,381 (GRCm39)	T178A	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Slc16a4	G	A	3: 107,208,512 (GRCm39)	A341T	possibly damaging	Het
Spata31h1	A	G	10: 82,128,667 (GRCm39)	F1448L	probably benign	Het
Tank	T	A	2: 61,480,640 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,677,822 (GRCm39)	Y69F	probably damaging	Het
Trp53bp1	T	C	2: 121,038,284 (GRCm39)	D1518G	probably damaging	Het
Txndc16	T	C	14: 45,398,792 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,281,028 (GRCm39)	Y227H	probably damaging	Het
Vps50	G	A	6: 3,551,101 (GRCm39)	W388*	probably null	Het
Zfp516	T	A	18: 83,006,232 (GRCm39)	D1045E	probably damaging	Het
Zscan10	C	T	17: 23,824,831 (GRCm39)	P96S	probably damaging	Het

Other mutations in 4930556J24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:4930556J24Rik	APN	11	3,887,974 (GRCm39)	missense	unknown
P4717OSA:4930556J24Rik	UTSW	11	3,888,178 (GRCm39)	splice site	probably null
P4748:4930556J24Rik	UTSW	11	3,888,178 (GRCm39)	splice site	probably null
R0478:4930556J24Rik	UTSW	11	3,926,259 (GRCm39)	intron	probably benign
R5593:4930556J24Rik	UTSW	11	3,888,027 (GRCm39)	missense	unknown
R5594:4930556J24Rik	UTSW	11	3,888,027 (GRCm39)	missense	unknown
R5698:4930556J24Rik	UTSW	11	3,926,366 (GRCm39)	missense	possibly damaging	0.93
R6081:4930556J24Rik	UTSW	11	3,888,140 (GRCm39)	missense	unknown
R6169:4930556J24Rik	UTSW	11	3,888,005 (GRCm39)	missense	unknown
R8695:4930556J24Rik	UTSW	11	3,926,192 (GRCm39)	critical splice donor site	probably benign
T0975:4930556J24Rik	UTSW	11	3,926,324 (GRCm39)	missense	unknown
T0975:4930556J24Rik	UTSW	11	3,887,945 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAACTTGTCCTCCACACTGG -3'
(R):5'- TTGGCAAGTACCAGGCTAGC -3'

Sequencing Primer
(F):5'- ACACTGGTTTGTGTCTCCCGTG -3'
(R):5'- AAGTACCAGGCTAGCCAGTGTC -3'

Posted On

2018-06-22