Mutagenetix > Incidental Mutation

Incidental Mutation 'R6730:4930455H04Rik'

530005

Institutional Source

Beutler Lab

Gene Symbol

4930455H04Rik

Ensembl Gene

ENSMUSG00000080907

Gene Name

RIKEN cDNA 4930455H04 gene

Synonyms

MMRRC Submission

044848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116761916-116778055 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 116777124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 59 (*59R)

Ref Sequence

ENSEMBL: ENSMUSP00000113404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117592]

AlphaFold

D3Z622

Predicted Effect

probably null
Transcript: ENSMUST00000117592
AA Change: *59R

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	G	T	9: 70,647,458 (GRCm39)		probably null	Het
Adam2	A	T	14: 66,275,025 (GRCm39)	N569K	possibly damaging	Het
Adam20	T	C	8: 41,249,696 (GRCm39)	V602A	probably benign	Het
Adgrb3	T	C	1: 25,133,375 (GRCm39)	Y1237C	probably damaging	Het
Ago3	T	C	4: 126,265,338 (GRCm39)	T318A	probably null	Het
Aknad1	G	A	3: 108,659,655 (GRCm39)	G223D	possibly damaging	Het
Camkv	T	C	9: 107,825,516 (GRCm39)	S478P	possibly damaging	Het
Ccl27a	T	A	4: 41,773,342 (GRCm39)	H39L	probably damaging	Het
Ccser2	C	A	14: 36,601,043 (GRCm39)	S447I	probably damaging	Het
Clvs2	A	G	10: 33,404,517 (GRCm39)	L233P	probably damaging	Het
Csn1s2b	T	A	5: 87,970,127 (GRCm39)	H124Q	probably benign	Het
Dnhd1	T	C	7: 105,353,082 (GRCm39)	L2745P	probably benign	Het
Dync1i2	T	A	2: 71,077,484 (GRCm39)	F219L	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ephb6	C	T	6: 41,594,308 (GRCm39)	Q613*	probably null	Het
Erc2	A	C	14: 27,620,524 (GRCm39)	D50A	possibly damaging	Het
Fam149a	T	A	8: 45,834,211 (GRCm39)	D196V	probably damaging	Het
Ficd	T	C	5: 113,876,773 (GRCm39)	V316A	probably damaging	Het
Gstm6	T	A	3: 107,850,041 (GRCm39)	K18*	probably null	Het
Ighv1-62-1	A	T	12: 115,350,512 (GRCm39)	W52R	probably benign	Het
Klhl18	C	T	9: 110,257,979 (GRCm39)	C417Y	probably damaging	Het
Ly9	T	A	1: 171,432,737 (GRCm39)	Y92F	probably benign	Het
Mettl18	C	T	1: 163,824,750 (GRCm39)	T357I	probably damaging	Het
Myoz2	C	A	3: 122,810,276 (GRCm39)	G100C	probably damaging	Het
Or10a49	A	T	7: 108,467,780 (GRCm39)	F194I	probably benign	Het
Or4k47	A	G	2: 111,452,080 (GRCm39)	V113A	probably damaging	Het
Or7h8	T	C	9: 20,123,798 (GRCm39)	I51T	probably benign	Het
Pars2	C	T	4: 106,510,628 (GRCm39)	L128F	probably damaging	Het
Pcsk6	G	T	7: 65,629,996 (GRCm39)	R374L	probably damaging	Het
Ptpn3	T	C	4: 57,270,088 (GRCm39)	T25A	probably benign	Het
Rab11fip1	G	A	8: 27,633,257 (GRCm39)	P1150S	probably damaging	Het
Rabep1	A	G	11: 70,831,212 (GRCm39)	Q831R	possibly damaging	Het
Rad17	T	C	13: 100,786,253 (GRCm39)		probably benign	Het
Rxfp1	T	A	3: 79,557,898 (GRCm39)	R527*	probably null	Het
Scnn1b	C	T	7: 121,502,100 (GRCm39)	P253S	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc2a7	T	C	4: 150,242,605 (GRCm39)	F231S	probably damaging	Het
Svil	A	G	18: 5,049,311 (GRCm39)	N196S	probably benign	Het
Tent5c	T	A	3: 100,380,273 (GRCm39)	N161I	probably benign	Het
Urb1	T	C	16: 90,575,971 (GRCm39)	S862G	possibly damaging	Het
Usp30	T	C	5: 114,241,770 (GRCm39)	S87P	probably damaging	Het
Vmn1r177	T	A	7: 23,565,237 (GRCm39)	H213L	probably damaging	Het
Vmn2r106	T	A	17: 20,499,096 (GRCm39)	I272L	possibly damaging	Het
Vmn2r120	T	A	17: 57,832,012 (GRCm39)	D259V	probably benign	Het

Other mutations in 4930455H04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01457:4930455H04Rik	APN	3	116,762,200 (GRCm39)	intron	probably benign
R7276:4930455H04Rik	UTSW	3	116,762,227 (GRCm39)	missense	unknown
R8937:4930455H04Rik	UTSW	3	116,762,120 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCTATCTCCAGAAGTCACGG -3'
(R):5'- AGTTTCCAAATTGCTCACATGTGG -3'

Sequencing Primer
(F):5'- CCAGAAGTCACGGTTTTAGTTCCAAG -3'
(R):5'- CCAAATTGCTCACATGTGGAGTGG -3'

Posted On

2018-08-01