Mutagenetix > Incidental Mutation

Incidental Mutation 'R5784:2610008E11Rik'

447926

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

MMRRC Submission

043381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78900208-78933434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78903441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 292 (R292G)

Ref Sequence

ENSEMBL: ENSMUSP00000044020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039271] [ENSMUST00000218854] [ENSMUST00000220220]

AlphaFold

G3X964

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039271
AA Change: R292G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: R292G

Domain	Start	End	E-Value	Type
KRAB	10	70	6.95e-32	SMART
ZnF_C2H2	215	237	1.61e2	SMART
ZnF_C2H2	243	266	4.24e-4	SMART
ZnF_C2H2	272	295	1.03e-2	SMART
ZnF_C2H2	301	324	1.76e-1	SMART
ZnF_C2H2	330	352	1.45e-2	SMART
ZnF_C2H2	358	380	1.58e-3	SMART
ZnF_C2H2	386	408	2.75e-3	SMART
ZnF_C2H2	414	437	4.61e-5	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	5.81e-2	SMART
ZnF_C2H2	499	521	4.79e-3	SMART
ZnF_C2H2	527	549	3.58e-2	SMART
ZnF_C2H2	555	577	3.44e-4	SMART
ZnF_C2H2	583	605	6.78e-3	SMART
ZnF_C2H2	611	633	3.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218854

Predicted Effect

probably benign
Transcript: ENSMUST00000220220

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	T	A	8: 105,524,261 (GRCm39)		noncoding transcript	Het
Aox3	A	G	1: 58,192,658 (GRCm39)	D544G	probably benign	Het
Atg2a	C	A	19: 6,311,535 (GRCm39)	A1830D	probably damaging	Het
Casp1	T	C	9: 5,299,337 (GRCm39)	I22T	probably damaging	Het
Ccdc141	A	C	2: 76,859,671 (GRCm39)	L990W	probably damaging	Het
Cnbd2	A	G	2: 156,180,577 (GRCm39)	T125A	probably damaging	Het
Cnep1r1	T	A	8: 88,857,354 (GRCm39)		probably benign	Het
Dhx38	G	T	8: 110,286,245 (GRCm39)	Y348*	probably null	Het
Dnah7c	A	T	1: 46,563,228 (GRCm39)	I593L	possibly damaging	Het
Dpep3	T	C	8: 106,705,375 (GRCm39)	D125G	probably benign	Het
Eif1ad10	T	A	12: 88,216,525 (GRCm39)	N116Y	probably damaging	Het
Epb41l4b	A	C	4: 57,086,003 (GRCm39)	S191A	probably damaging	Het
Etl4	A	G	2: 20,811,016 (GRCm39)	Y1033C	possibly damaging	Het
Fam193a	T	C	5: 34,623,567 (GRCm39)	L32P	probably damaging	Het
Grin2c	T	C	11: 115,149,121 (GRCm39)	E159G	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdhd2	A	T	18: 77,054,841 (GRCm39)	D205V	probably damaging	Het
Helz	T	A	11: 107,561,307 (GRCm39)	N774K	unknown	Het
Idh3b	A	G	2: 130,121,591 (GRCm39)	V71A	probably damaging	Het
Lars1	T	C	18: 42,352,964 (GRCm39)	M818V	probably benign	Het
Ltbp2	A	G	12: 84,915,513 (GRCm39)	V162A	probably damaging	Het
Ltk	G	A	2: 119,584,840 (GRCm39)	Q136*	probably null	Het
Mafb	A	T	2: 160,208,461 (GRCm39)	C46S	probably damaging	Het
Map1s	T	C	8: 71,367,002 (GRCm39)	S636P	probably damaging	Het
Map3k13	A	G	16: 21,717,391 (GRCm39)	K209E	possibly damaging	Het
Mppe1	T	C	18: 67,361,098 (GRCm39)	N220D	probably benign	Het
Mydgf	T	C	17: 56,485,254 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,190,521 (GRCm39)	K999E	possibly damaging	Het
Nemp1	T	A	10: 127,513,067 (GRCm39)	V34D	possibly damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Or10x4	G	A	1: 174,218,965 (GRCm39)	C110Y	probably damaging	Het
Or13g1	T	C	7: 85,955,743 (GRCm39)	N193D	probably damaging	Het
Or9q2	A	T	19: 13,772,710 (GRCm39)	H88Q	probably benign	Het
Papln	A	G	12: 83,828,754 (GRCm39)	N820S	probably benign	Het
Pcdh10	T	G	3: 45,335,075 (GRCm39)	F463C	probably damaging	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Radil	G	T	5: 142,473,268 (GRCm39)	H804Q	possibly damaging	Het
Rbfox1	A	T	16: 7,042,203 (GRCm39)	D39V	probably damaging	Het
Rims2	T	G	15: 39,399,383 (GRCm39)		probably null	Het
Rnf121	A	G	7: 101,684,583 (GRCm39)	F110S	probably benign	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc2a3	A	T	6: 122,712,376 (GRCm39)		probably null	Het
Traf2	A	T	2: 25,429,049 (GRCm39)	V6E	probably benign	Het
Trim43c	A	T	9: 88,729,696 (GRCm39)	N379I	probably benign	Het
Ubr4	C	G	4: 139,152,529 (GRCm39)	C1973W	probably damaging	Het
Unc13a	G	T	8: 72,108,310 (GRCm39)	D514E	possibly damaging	Het
Wdr27	T	A	17: 15,146,495 (GRCm39)	T167S	probably damaging	Het
Zfp174	A	T	16: 3,672,438 (GRCm39)	E329V	probably benign	Het
Zfp422	A	T	6: 116,603,771 (GRCm39)	I76N	probably damaging	Het

Other mutations in 2610008E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:2610008E11Rik	APN	10	78,924,147 (GRCm39)	missense	possibly damaging	0.79
IGL01905:2610008E11Rik	APN	10	78,903,582 (GRCm39)	missense	probably damaging	1.00
IGL02522:2610008E11Rik	APN	10	78,903,633 (GRCm39)	missense	probably benign	0.27
IGL02999:2610008E11Rik	APN	10	78,903,424 (GRCm39)	missense	possibly damaging	0.74
K7371:2610008E11Rik	UTSW	10	78,903,767 (GRCm39)	missense	probably benign	0.01
R0557:2610008E11Rik	UTSW	10	78,903,519 (GRCm39)	missense	probably damaging	0.99
R0761:2610008E11Rik	UTSW	10	78,903,833 (GRCm39)	missense	probably benign	0.00
R1528:2610008E11Rik	UTSW	10	78,903,530 (GRCm39)	missense	possibly damaging	0.72
R1801:2610008E11Rik	UTSW	10	78,903,230 (GRCm39)	missense	probably damaging	1.00
R1923:2610008E11Rik	UTSW	10	78,903,743 (GRCm39)	missense	probably damaging	0.98
R2444:2610008E11Rik	UTSW	10	78,904,561 (GRCm39)	missense	possibly damaging	0.95
R4223:2610008E11Rik	UTSW	10	78,930,286 (GRCm39)	missense	probably damaging	1.00
R4653:2610008E11Rik	UTSW	10	78,903,264 (GRCm39)	missense	probably benign	0.42
R5127:2610008E11Rik	UTSW	10	78,902,826 (GRCm39)	missense	probably damaging	1.00
R6175:2610008E11Rik	UTSW	10	78,902,448 (GRCm39)	missense	probably damaging	0.98
R6990:2610008E11Rik	UTSW	10	78,902,925 (GRCm39)	missense	probably damaging	0.99
R7055:2610008E11Rik	UTSW	10	78,903,681 (GRCm39)	missense	probably damaging	0.98
R7133:2610008E11Rik	UTSW	10	78,902,474 (GRCm39)	missense	probably benign	0.33
R7133:2610008E11Rik	UTSW	10	78,902,473 (GRCm39)	missense	probably benign	0.02
R7142:2610008E11Rik	UTSW	10	78,903,446 (GRCm39)	missense	probably damaging	1.00
R7382:2610008E11Rik	UTSW	10	78,903,103 (GRCm39)	missense	probably damaging	1.00
R7577:2610008E11Rik	UTSW	10	78,902,325 (GRCm39)	missense	possibly damaging	0.95
R8103:2610008E11Rik	UTSW	10	78,903,668 (GRCm39)	missense	probably benign
R8117:2610008E11Rik	UTSW	10	78,930,289 (GRCm39)	missense	probably benign	0.07
R8296:2610008E11Rik	UTSW	10	78,903,568 (GRCm39)	missense	probably benign	0.09
R8316:2610008E11Rik	UTSW	10	78,903,573 (GRCm39)	missense	probably damaging	1.00
R8477:2610008E11Rik	UTSW	10	78,924,174 (GRCm39)	missense	probably benign	0.00
R8790:2610008E11Rik	UTSW	10	78,928,285 (GRCm39)	missense	possibly damaging	0.85
R9044:2610008E11Rik	UTSW	10	78,902,314 (GRCm39)	nonsense	probably null
R9147:2610008E11Rik	UTSW	10	78,903,406 (GRCm39)	nonsense	probably null
R9148:2610008E11Rik	UTSW	10	78,903,406 (GRCm39)	nonsense	probably null
R9474:2610008E11Rik	UTSW	10	78,903,565 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCACTATGAGTTGTTTGATG -3'
(R):5'- AAATTTTCCCCTGGAAGTCCC -3'

Sequencing Primer
(F):5'- CCCACTATGAGTTGTTTGATGACGAG -3'
(R):5'- TGGAAGTCCCAACTCAGTGTACATG -3'

Posted On

2016-12-15