Mutagenetix > Incidental Mutation

Incidental Mutation 'K7371:2610008E11Rik'

7866

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

K7371 of strain 614

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78900208-78933434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78903767 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Tyrosine to Cysteine at position 155 (Y155C)

Ref Sequence

ENSEMBL: ENSMUSP00000151709 (fasta)

Gene Model

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

AlphaFold

G3X964

Predicted Effect

probably benign
Transcript: ENSMUST00000039271
AA Change: Y183C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: Y183C

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
AA Change: Y155C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000220220

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 85.4%
3x: 78.2%

Validation Efficiency

72% (67/93)

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpi	G	A	1: 87,026,893 (GRCm39)		probably benign	Homo
Ap4e1	T	A	2: 126,908,456 (GRCm39)		probably benign	Het
Arhgdib	A	T	6: 136,909,297 (GRCm39)		probably null	Het
Ckap5	T	C	2: 91,425,868 (GRCm39)		probably benign	Het
Ddx50	A	T	10: 62,457,289 (GRCm39)	M1K	probably null	Het
Ell3	T	C	2: 121,269,969 (GRCm39)	H380R	probably damaging	Het
Epx	A	G	11: 87,755,710 (GRCm39)	V658A	probably damaging	Homo
Ern1	A	T	11: 106,291,101 (GRCm39)	I858N	probably damaging	Homo
Mtmr10	G	A	7: 63,963,958 (GRCm39)	G231D	probably benign	Het
Nfx1	A	G	4: 40,976,803 (GRCm39)	D159G	probably damaging	Homo
Opn5	A	G	17: 42,891,522 (GRCm39)	I305T	probably damaging	Homo
Pak2	T	C	16: 31,852,602 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,400,838 (GRCm39)	I2204K	possibly damaging	Het
Pkhd1l1	A	T	15: 44,363,463 (GRCm39)	T628S	possibly damaging	Het
Smgc	T	A	15: 91,744,453 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,872,206 (GRCm39)	L1194F	probably damaging	Het
Stab2	A	G	10: 86,779,153 (GRCm39)		probably null	Homo
Tet1	T	C	10: 62,714,955 (GRCm39)	D280G	probably benign	Het
Vcam1	A	G	3: 115,918,298 (GRCm39)	I227T	probably benign	Homo
Wdr87-ps	A	G	7: 29,230,417 (GRCm39)		noncoding transcript	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
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
R5784:2610008E11Rik	UTSW	10	78,903,441 (GRCm39)	missense	possibly damaging	0.68
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

Posted On

2012-11-12