Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:2610021A01Rik'

380719

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41599230-41628533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41626802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 643 (E643G)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163475]

AlphaFold

E9Q0Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000163475
AA Change: E643G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: E643G

Domain	Start	End	E-Value	Type
KRAB	18	78	1.32e-32	SMART
ZnF_C2H2	415	437	4.54e-4	SMART
ZnF_C2H2	443	465	3.69e-4	SMART
ZnF_C2H2	471	493	5.14e-3	SMART
ZnF_C2H2	499	521	4.94e-5	SMART
ZnF_C2H2	527	549	3.16e-3	SMART
ZnF_C2H2	555	577	3.16e-3	SMART
ZnF_C2H2	583	605	8.6e-5	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.43e-4	SMART
ZnF_C2H2	667	689	1.72e-4	SMART
ZnF_C2H2	695	717	9.73e-4	SMART
ZnF_C2H2	723	745	2.02e-1	SMART
ZnF_C2H2	751	773	1.69e-3	SMART
ZnF_C2H2	779	801	3.69e-4	SMART
ZnF_C2H2	807	829	7.37e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206757

Meta Mutation Damage Score

0.3630

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in 2610021A01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:2610021A01Rik	APN	7	41625572	missense	possibly damaging	0.61
IGL00566:2610021A01Rik	APN	7	41625391	missense	possibly damaging	0.53
R0940:2610021A01Rik	UTSW	7	41626434	missense	probably damaging	1.00
R1101:2610021A01Rik	UTSW	7	41627359	missense	probably damaging	1.00
R1180:2610021A01Rik	UTSW	7	41625717	missense	probably benign	0.41
R1560:2610021A01Rik	UTSW	7	41626042	missense	probably benign	0.09
R1740:2610021A01Rik	UTSW	7	41626125	nonsense	probably null
R1988:2610021A01Rik	UTSW	7	41626657	nonsense	probably null
R2041:2610021A01Rik	UTSW	7	41625979	missense	possibly damaging	0.63
R2964:2610021A01Rik	UTSW	7	41626405	nonsense	probably null
R2965:2610021A01Rik	UTSW	7	41626405	nonsense	probably null
R2966:2610021A01Rik	UTSW	7	41626405	nonsense	probably null
R4002:2610021A01Rik	UTSW	7	41625540	missense	possibly damaging	0.83
R4569:2610021A01Rik	UTSW	7	41625838	missense	probably benign	0.04
R4708:2610021A01Rik	UTSW	7	41611885	missense	probably damaging	1.00
R4880:2610021A01Rik	UTSW	7	41627105	missense	possibly damaging	0.47
R5036:2610021A01Rik	UTSW	7	41626154	missense	possibly damaging	0.92
R5206:2610021A01Rik	UTSW	7	41626585	nonsense	probably null
R5235:2610021A01Rik	UTSW	7	41624832	missense	possibly damaging	0.53
R6449:2610021A01Rik	UTSW	7	41625874	nonsense	probably null
R6488:2610021A01Rik	UTSW	7	41625874	nonsense	probably null
R6904:2610021A01Rik	UTSW	7	41626092	nonsense	probably null
R7058:2610021A01Rik	UTSW	7	41626130	missense	possibly damaging	0.61
R7157:2610021A01Rik	UTSW	7	41626976	missense	probably damaging	1.00
R7392:2610021A01Rik	UTSW	7	41626566	missense	probably damaging	1.00
R7589:2610021A01Rik	UTSW	7	41626972	missense	probably damaging	1.00
R7648:2610021A01Rik	UTSW	7	41612462	missense	possibly damaging	0.51
R7785:2610021A01Rik	UTSW	7	41613193	missense	probably benign
R8153:2610021A01Rik	UTSW	7	41625733	missense	probably benign	0.00
R8199:2610021A01Rik	UTSW	7	41625880	missense	probably damaging	0.98
R8943:2610021A01Rik	UTSW	7	41626243	missense	probably damaging	0.98
R9052:2610021A01Rik	UTSW	7	41626025	missense	probably benign	0.29
R9071:2610021A01Rik	UTSW	7	41625359	missense	probably benign
R9169:2610021A01Rik	UTSW	7	41611685	start gained	probably benign
R9209:2610021A01Rik	UTSW	7	41626413	missense	possibly damaging	0.79
R9281:2610021A01Rik	UTSW	7	41624760	missense	possibly damaging	0.73
R9530:2610021A01Rik	UTSW	7	41624741	missense	possibly damaging	0.53
R9612:2610021A01Rik	UTSW	7	41626903	missense	possibly damaging	0.73
X0067:2610021A01Rik	UTSW	7	41627317	missense	probably benign	0.09
Z1176:2610021A01Rik	UTSW	7	41625342	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGGCAAGTCCTTTACCAGCC -3'
(R):5'- AAACCCTTGCCACATTCCTT -3'

Sequencing Primer
(F):5'- GCCGAGGGCTCAACTCTTAAATC -3'
(R):5'- CTGGGAAAAGGACTTGCCACATTC -3'

Posted On

2016-04-15