Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:2610008E11Rik'

213226

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1923 (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 78903743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 163 (E163G)

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: E191G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: E191G

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 damaging
Transcript: ENSMUST00000218854
AA Change: E163G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000220220

Meta Mutation Damage Score

0.5557

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Carmil3	A	G	14: 55,739,861 (GRCm39)	T983A	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fam53b	A	G	7: 132,317,521 (GRCm39)	S374P	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or7g19	C	T	9: 18,856,781 (GRCm39)	T279I	probably benign	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Skic3	T	A	13: 76,282,889 (GRCm39)	V737D	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tmem236	T	C	2: 14,224,117 (GRCm39)	I302T	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGACTTCCTGCATTCTTCACAC -3'
(R):5'- GGGAAGCAGATACTGTTGATATTGG -3'

Sequencing Primer
(F):5'- GCATTCTTCACACTCATAGCG -3'
(R):5'- CAAGGCAGAACTACAGATTC -3'

Posted On

2014-07-14