Mutagenetix > Incidental Mutation

Incidental Mutation 'R2888:4930480E11Rik'

260018

Institutional Source

Beutler Lab

Gene Symbol

4930480E11Rik

Ensembl Gene

ENSMUSG00000035651

Gene Name

RIKEN cDNA 4930480E11 gene

Synonyms

MMRRC Submission

040476-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2888 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

77413249-77414734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77414288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 338 (I338F)

Ref Sequence

ENSEMBL: ENSMUSP00000037594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035626]

AlphaFold

Q0VG34

Predicted Effect

probably damaging
Transcript: ENSMUST00000035626
AA Change: I338F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121269

Meta Mutation Damage Score

0.2479

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	G	8: 106,425,470 (GRCm39)	S288P	probably benign	Het
Aimp2	T	C	5: 143,846,553 (GRCm39)		probably benign	Het
Atp8b2	T	C	3: 89,865,600 (GRCm39)	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,258,968 (GRCm39)	I1226F	probably damaging	Het
Dsp	C	A	13: 38,376,224 (GRCm39)	N1336K	possibly damaging	Het
Extl2	T	C	3: 115,820,906 (GRCm39)	F251S	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Itpr2	C	T	6: 146,072,791 (GRCm39)	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,763,764 (GRCm39)	K762E	probably benign	Het
Krtap4-9	C	A	11: 99,676,245 (GRCm39)	C55*	probably null	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Llcfc1	A	T	6: 41,661,537 (GRCm39)	K29M	probably damaging	Het
Malrd1	A	T	2: 16,079,568 (GRCm39)	I1762F	unknown	Het
Muc5b	G	A	7: 141,415,291 (GRCm39)	V2746M	probably damaging	Het
Mug1	T	A	6: 121,858,802 (GRCm39)	D1173E	probably benign	Het
Myo5b	G	C	18: 74,895,689 (GRCm39)	E1782Q	probably damaging	Het
Or2t46	T	C	11: 58,471,988 (GRCm39)	F106S	possibly damaging	Het
Pcdha5	A	G	18: 37,094,940 (GRCm39)	D483G	probably damaging	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,897,251 (GRCm39)	S103C	probably damaging	Het
Plekha4	C	T	7: 45,187,668 (GRCm39)	R176C	probably damaging	Het
Ppp1r3a	T	G	6: 14,718,248 (GRCm39)	S889R	possibly damaging	Het
Pramel23	G	T	4: 143,423,460 (GRCm39)	T443K	probably benign	Het
Prol1	C	A	5: 88,476,168 (GRCm39)	A186E	unknown	Het
Rbm39	C	T	2: 156,009,503 (GRCm39)	R123H	probably benign	Het
Rtn4	T	C	11: 29,643,687 (GRCm39)	S167P	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Smoc2	T	C	17: 14,617,887 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,798,664 (GRCm39)	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 51,242,577 (GRCm39)	E173D	probably damaging	Het
Tsc2	A	G	17: 24,850,969 (GRCm39)		probably null	Het
Umps	A	T	16: 33,784,240 (GRCm39)	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Wdfy4	C	A	14: 32,831,476 (GRCm39)	E917*	probably null	Het
Zfhx2	T	C	14: 55,302,260 (GRCm39)	K1908R	possibly damaging	Het
Zfp511	A	C	7: 139,619,295 (GRCm39)	D204A	probably benign	Het

Other mutations in 4930480E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:4930480E11Rik	APN	X	77,413,625 (GRCm39)	nonsense	probably null
R2889:4930480E11Rik	UTSW	X	77,414,288 (GRCm39)	missense	probably damaging	0.99
R2890:4930480E11Rik	UTSW	X	77,414,288 (GRCm39)	missense	probably damaging	0.99
R2897:4930480E11Rik	UTSW	X	77,413,868 (GRCm39)	nonsense	probably null
R2898:4930480E11Rik	UTSW	X	77,413,868 (GRCm39)	nonsense	probably null
R7117:4930480E11Rik	UTSW	X	77,414,311 (GRCm39)	missense	probably benign	0.24
R7250:4930480E11Rik	UTSW	X	77,414,311 (GRCm39)	missense	probably benign	0.24
R7251:4930480E11Rik	UTSW	X	77,414,311 (GRCm39)	missense	probably benign	0.24
R7252:4930480E11Rik	UTSW	X	77,414,311 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GATCTTTCTCTGTCCACCAAGG -3'
(R):5'- CCAAAGGGTGTCCACTCAATAC -3'

Sequencing Primer
(F):5'- TCCACCAAGGAGAAGTTTAAACATG -3'
(R):5'- GGGTGTCCACTCAATACAAATG -3'

Posted On

2015-01-23