Mutagenetix > Incidental Mutation

Incidental Mutation 'R5854:4930553M12Rik'

454811

Institutional Source

Beutler Lab

Gene Symbol

4930553M12Rik

Ensembl Gene

ENSMUSG00000054351

Gene Name

RIKEN cDNA 4930553M12 gene

Synonyms

MMRRC Submission

043228-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88785470-88786617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88786596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 7 (I7M)

Ref Sequence

ENSEMBL: ENSMUSP00000052657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057837]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000057837
AA Change: I7M

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atg4c	G	A	4: 99,116,796 (GRCm39)	V313I	probably benign	Het
Ccdc18	A	G	5: 108,354,594 (GRCm39)	E1111G	possibly damaging	Het
Chuk	T	C	19: 44,070,396 (GRCm39)	H573R	probably benign	Het
Cst13	A	G	2: 148,670,094 (GRCm39)	N88S	probably benign	Het
Dalrd3	T	C	9: 108,447,276 (GRCm39)		probably null	Het
Dnah8	T	A	17: 31,013,737 (GRCm39)	M3826K	possibly damaging	Het
Dsp	A	G	13: 38,351,477 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,452,076 (GRCm39)	L810P	probably damaging	Het
Fcrlb	T	C	1: 170,735,530 (GRCm39)	Y248C	probably damaging	Het
Gmcl1	A	G	6: 86,691,241 (GRCm39)		silent	Het
Gtf3c3	C	A	1: 54,458,596 (GRCm39)	A442S	probably benign	Het
Hdac4	T	C	1: 91,887,143 (GRCm39)	S799G	probably damaging	Het
Hnrnpa2b1	C	G	6: 51,443,589 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,495,508 (GRCm39)	E177G	probably damaging	Het
Knl1	A	G	2: 118,900,884 (GRCm39)	I862V	probably benign	Het
Lonp2	T	A	8: 87,399,699 (GRCm39)		probably null	Het
Map3k19	G	T	1: 127,758,092 (GRCm39)	P363T	probably damaging	Het
Morn3	A	G	5: 123,179,178 (GRCm39)	Y91H	probably damaging	Het
Myom2	A	G	8: 15,158,478 (GRCm39)	D810G	probably benign	Het
Nans	A	G	4: 46,500,180 (GRCm39)	Y188C	probably damaging	Het
Ndufs1	A	T	1: 63,186,548 (GRCm39)	D1E	probably benign	Het
Nelfb	T	C	2: 25,100,005 (GRCm39)	N204S	probably damaging	Het
Noxo1	T	C	17: 24,917,516 (GRCm39)	S31P	probably damaging	Het
Or13a20	A	G	7: 140,232,491 (GRCm39)	M200V	probably benign	Het
Or5af1	T	A	11: 58,722,382 (GRCm39)	M134K	probably damaging	Het
Or8b50	T	C	9: 38,517,959 (GRCm39)	L66S	probably damaging	Het
Pkd1l2	T	G	8: 117,792,485 (GRCm39)	T436P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,445,186 (GRCm39)	D3686G	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,974 (GRCm39)	L285S	probably damaging	Het
Pzp	A	T	6: 128,483,832 (GRCm39)	V522D	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rpe65	A	G	3: 159,321,313 (GRCm39)	D375G	probably benign	Het
Sacs	C	T	14: 61,448,996 (GRCm39)	L3681F	probably damaging	Het
Sft2d1	C	T	17: 8,539,485 (GRCm39)	T96I	probably damaging	Het
Slc12a7	A	G	13: 73,942,059 (GRCm39)	N312D	probably benign	Het
Spaca6	A	T	17: 18,051,509 (GRCm39)	K82*	probably null	Het
Stk32c	A	G	7: 138,768,195 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,193,646 (GRCm39)	N263Y	probably damaging	Het
Uxs1	T	C	1: 43,819,233 (GRCm39)	N190S	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in 4930553M12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00163:4930553M12Rik	APN	4	88,786,310 (GRCm39)	nonsense	probably null
R0194:4930553M12Rik	UTSW	4	88,786,480 (GRCm39)	missense	unknown
R2143:4930553M12Rik	UTSW	4	88,786,412 (GRCm39)	missense	unknown
R2143:4930553M12Rik	UTSW	4	88,786,411 (GRCm39)	missense	unknown
R2144:4930553M12Rik	UTSW	4	88,786,412 (GRCm39)	missense	unknown
R2144:4930553M12Rik	UTSW	4	88,786,411 (GRCm39)	missense	unknown
R5135:4930553M12Rik	UTSW	4	88,786,508 (GRCm39)	missense	unknown
R5822:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5848:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5849:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5850:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5856:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R6128:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R6130:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R7054:4930553M12Rik	UTSW	4	88,786,486 (GRCm39)	missense	unknown
R7292:4930553M12Rik	UTSW	4	88,786,568 (GRCm39)	missense	unknown
R7754:4930553M12Rik	UTSW	4	88,786,496 (GRCm39)	missense	unknown
R7844:4930553M12Rik	UTSW	4	88,786,423 (GRCm39)	missense	unknown
R7980:4930553M12Rik	UTSW	4	88,786,315 (GRCm39)	missense	unknown
R9417:4930553M12Rik	UTSW	4	88,786,202 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTTTCTCGCCCAAAGAATC -3'
(R):5'- CAAAGAATATTCTGGCACTGGG -3'

Sequencing Primer
(F):5'- AAAGAATCCGCTTATTCCCCTG -3'
(R):5'- CCTTTTGGAGCCAGCCAAC -3'

Posted On

2017-02-10