Mutagenetix > Incidental Mutation

Incidental Mutation 'R4223:2610008E11Rik'

319466

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

MMRRC Submission

041043-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79064374-79097600 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79094452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 43 (Y43H)

Ref Sequence

ENSEMBL: ENSMUSP00000151822 (fasta)

Gene Model

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

AlphaFold

G3X964

Predicted Effect

probably damaging
Transcript: ENSMUST00000039271
AA Change: Y43H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: Y43H

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: Y43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219729

Predicted Effect

probably damaging
Transcript: ENSMUST00000220220
AA Change: Y43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	T	1: 74,281,126	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,813,722	L226M	probably damaging	Het
Acap1	A	G	11: 69,883,685	S396P	probably damaging	Het
Aif1l	A	T	2: 31,962,239	S40C	probably damaging	Het
Atp1a3	T	C	7: 25,000,930	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352		noncoding transcript	Het
C130026I21Rik	T	C	1: 85,112,557	D83G	probably damaging	Het
Ccdc116	A	G	16: 17,146,945		probably benign	Het
Cmtm5	T	A	14: 54,937,919	C51S	probably damaging	Het
Cyb5rl	T	C	4: 107,080,988	V214A	probably damaging	Het
Cyp4x1	A	T	4: 115,112,880	I350N	probably damaging	Het
Efcab6	C	A	15: 83,867,108	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,566,299		probably benign	Het
Epha3	G	A	16: 63,583,539	S733L	probably damaging	Het
Esyt1	T	C	10: 128,520,648	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,238,356	F4L	probably benign	Het
Glis1	T	C	4: 107,567,845	S218P	probably benign	Het
Gm15854	A	T	6: 129,972,463		noncoding transcript	Het
Gm29125	T	C	1: 80,383,519		noncoding transcript	Het
Inpp5a	T	C	7: 139,558,905	V263A	possibly damaging	Het
Itgb1	T	G	8: 128,714,143	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,258	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,109,982	L72F	probably damaging	Het
Lama3	T	C	18: 12,450,403	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,196,116	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,983,035	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,066,608		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251	D172E	probably benign	Het
Olfr1288	A	T	2: 111,479,144	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,022,613	K61E	probably damaging	Het
Pak2	G	T	16: 32,052,210	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,753,803	D675E	probably benign	Het
Pcolce	T	A	5: 137,605,127		probably benign	Het
Phc3	A	T	3: 30,936,819	S383R	probably damaging	Het
Phf1	C	T	17: 26,937,500	R539*	probably null	Het
Plch1	G	A	3: 63,701,900	T48I	probably damaging	Het
Plekha2	A	G	8: 25,043,020	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,982,114	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,414,715	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,859,213	I125T	probably benign	Het
Rfc3	C	A	5: 151,651,172		probably benign	Het
Rpa2	T	G	4: 132,776,744	I69S	probably damaging	Het
Rtn4	G	A	11: 29,706,856	V337I	probably benign	Het
Rttn	T	C	18: 89,095,584	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,219,053	P548L	possibly damaging	Het
Slc12a2	T	A	18: 57,910,256	S591T	probably damaging	Het
Slc25a45	A	T	19: 5,880,118	I39F	probably damaging	Het
Slc38a9	G	A	13: 112,714,248		probably null	Het
Slc9a4	T	C	1: 40,619,126	V603A	probably damaging	Het
Snx19	T	G	9: 30,428,448	V294G	possibly damaging	Het
Sspo	G	T	6: 48,451,157	V313L	possibly damaging	Het
Stard9	A	G	2: 120,664,991	T116A	possibly damaging	Het
Strn3	C	T	12: 51,627,855	R382Q	probably damaging	Het
Trim43b	T	A	9: 89,090,639	Q154L	probably benign	Het
Trps1	A	G	15: 50,846,648	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,183,978	M183L	probably benign	Het
Vmn2r60	A	T	7: 42,116,528	T20S	probably benign	Het
Wdr81	T	C	11: 75,448,002	T1444A	probably benign	Het
Xirp2	A	T	2: 67,516,493	E3026V	possibly damaging	Het

Other mutations in 2610008E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:2610008E11Rik	APN	10	79088313	missense	possibly damaging	0.79
IGL01905:2610008E11Rik	APN	10	79067748	missense	probably damaging	1.00
IGL02522:2610008E11Rik	APN	10	79067799	missense	probably benign	0.27
IGL02999:2610008E11Rik	APN	10	79067590	missense	possibly damaging	0.74
K7371:2610008E11Rik	UTSW	10	79067933	missense	probably benign	0.01
R0557:2610008E11Rik	UTSW	10	79067685	missense	probably damaging	0.99
R0761:2610008E11Rik	UTSW	10	79067999	missense	probably benign	0.00
R1528:2610008E11Rik	UTSW	10	79067696	missense	possibly damaging	0.72
R1801:2610008E11Rik	UTSW	10	79067396	missense	probably damaging	1.00
R1923:2610008E11Rik	UTSW	10	79067909	missense	probably damaging	0.98
R2444:2610008E11Rik	UTSW	10	79068727	missense	possibly damaging	0.95
R4653:2610008E11Rik	UTSW	10	79067430	missense	probably benign	0.42
R5127:2610008E11Rik	UTSW	10	79066992	missense	probably damaging	1.00
R5784:2610008E11Rik	UTSW	10	79067607	missense	possibly damaging	0.68
R6175:2610008E11Rik	UTSW	10	79066614	missense	probably damaging	0.98
R6990:2610008E11Rik	UTSW	10	79067091	missense	probably damaging	0.99
R7055:2610008E11Rik	UTSW	10	79067847	missense	probably damaging	0.98
R7133:2610008E11Rik	UTSW	10	79066639	missense	probably benign	0.02
R7133:2610008E11Rik	UTSW	10	79066640	missense	probably benign	0.33
R7142:2610008E11Rik	UTSW	10	79067612	missense	probably damaging	1.00
R7382:2610008E11Rik	UTSW	10	79067269	missense	probably damaging	1.00
R7577:2610008E11Rik	UTSW	10	79066491	missense	possibly damaging	0.95
R8103:2610008E11Rik	UTSW	10	79067834	missense	probably benign
R8117:2610008E11Rik	UTSW	10	79094455	missense	probably benign	0.07
R8296:2610008E11Rik	UTSW	10	79067734	missense	probably benign	0.09
R8316:2610008E11Rik	UTSW	10	79067739	missense	probably damaging	1.00
R8477:2610008E11Rik	UTSW	10	79088340	missense	probably benign	0.00
R8790:2610008E11Rik	UTSW	10	79092451	missense	possibly damaging	0.85
R9044:2610008E11Rik	UTSW	10	79066480	nonsense	probably null
R9147:2610008E11Rik	UTSW	10	79067572	nonsense	probably null
R9148:2610008E11Rik	UTSW	10	79067572	nonsense	probably null
R9474:2610008E11Rik	UTSW	10	79067731	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCAGTTCCCCAGGAAAG -3'
(R):5'- GCAAGTCATTCCTACAACAGAG -3'

Sequencing Primer
(F):5'- GGCTCAAGTGATGACTTAACATC -3'
(R):5'- TACAACAGAGAAGAATAAATCCCAGG -3'

Posted On

2015-06-10