Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:2610021A01Rik'

81401

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41599230-41628533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41626434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 520 (I520M)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

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

AlphaFold

E9Q0Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000163475
AA Change: I520M

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

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: I520M

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

0.3113

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,208,071		noncoding transcript	Het
Ackr4	A	G	9: 104,099,632	F39L	probably damaging	Het
Adgre5	C	T	8: 83,733,497	S92N	probably damaging	Het
Adrb2	T	C	18: 62,179,691	D21G	probably benign	Het
AI464131	A	G	4: 41,497,996	Y545H	probably damaging	Het
Akr1c6	G	A	13: 4,436,373	E60K	probably benign	Het
Bcl7c	T	A	7: 127,707,331	N96I	possibly damaging	Het
Brca1	A	T	11: 101,532,143	S106R	possibly damaging	Het
C6	A	T	15: 4,735,235	T138S	probably benign	Het
Cul3	T	C	1: 80,322,847		probably benign	Het
Dnah8	T	A	17: 30,803,243	M3939K	probably damaging	Het
Dock4	T	A	12: 40,631,627		probably benign	Het
Dsc2	T	G	18: 20,050,059	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,430,250		probably benign	Het
E330013P04Rik	A	G	19: 60,161,922		noncoding transcript	Het
Fam160a1	A	G	3: 85,665,490	V952A	possibly damaging	Het
Fggy	A	G	4: 95,697,001	E39G	probably benign	Het
Fmo6	A	T	1: 162,926,226	C116S	probably benign	Het
Gadd45a	A	G	6: 67,036,829	I44T	possibly damaging	Het
Gmps	A	G	3: 63,976,322		probably benign	Het
Gnmt	A	G	17: 46,726,345	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,650,002	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,525,738	Y202H	probably damaging	Het
Kank3	C	T	17: 33,817,476	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,328,697	D253G	probably benign	Het
Lrrk2	A	T	15: 91,729,081	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,506,887	K834R	probably benign	Het
Mycbp2	A	T	14: 103,262,693		probably benign	Het
Myh4	A	T	11: 67,242,863	N243Y	probably damaging	Het
Nfatc1	C	T	18: 80,635,895	M759I	probably benign	Het
Nipal4	A	G	11: 46,150,312	I352T	possibly damaging	Het
Nomo1	A	G	7: 46,033,905	E25G	possibly damaging	Het
Olfr1221	T	A	2: 89,112,075	I146L	probably benign	Het
Olfr128	A	G	17: 37,923,700	I45V	probably damaging	Het
Olfr1408	A	G	1: 173,130,453	S255P	probably benign	Het
Olfr392	T	C	11: 73,814,224	N286S	probably damaging	Het
Olfr490	T	C	7: 108,287,057	D23G	probably benign	Het
Olfr525	T	C	7: 140,323,152	I151T	probably benign	Het
Pabpn1l	A	G	8: 122,622,444	V78A	probably benign	Het
Pde6b	T	A	5: 108,420,337	I327N	possibly damaging	Het
Phrf1	T	C	7: 141,254,855		probably benign	Het
Pkm	C	T	9: 59,668,535		probably benign	Het
Plxna2	G	A	1: 194,800,555	V1519I	probably benign	Het
Ppp2cb	T	C	8: 33,615,661		probably null	Het
Prickle2	A	G	6: 92,411,003	Y473H	probably benign	Het
Prpf3	A	G	3: 95,844,223	W389R	probably damaging	Het
Psme4	G	A	11: 30,815,264	E544K	possibly damaging	Het
Relb	A	T	7: 19,611,842	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,416,563	N683S	probably benign	Het
Rtel1	T	C	2: 181,322,803	C102R	probably benign	Het
Sel1l3	C	T	5: 53,144,037		probably benign	Het
Slc8a2	A	G	7: 16,144,962	T458A	probably benign	Het
Smc3	T	A	19: 53,640,909	M931K	probably benign	Het
Sorbs2	T	C	8: 45,796,502	V795A	probably benign	Het
Tgm3	A	G	2: 130,012,406	S2G	probably benign	Het
Tpbpa	T	C	13: 60,940,053	T75A	probably damaging	Het
Trub1	A	G	19: 57,485,063		probably benign	Het
Uggt2	A	G	14: 119,091,192		probably null	Het
Ugt2a3	A	G	5: 87,327,206	V393A	possibly damaging	Het
Vav3	T	A	3: 109,562,835	M532K	possibly damaging	Het
Zfp616	A	T	11: 74,085,024	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,093,170	F55S	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
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
R4933:2610021A01Rik	UTSW	7	41626802	missense	probably damaging	0.98
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

Posted On

2013-11-07