Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:1110002E22Rik'

224856

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 138065658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 203 (R203*)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053318

Predicted Effect

probably null
Transcript: ENSMUST00000163080
AA Change: R203*

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: R203*

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	229	247	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	459	505	N/A	INTRINSIC
low complexity region	667	680	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC
low complexity region	995	1007	N/A	INTRINSIC
low complexity region	1105	1115	N/A	INTRINSIC
low complexity region	1224	1242	N/A	INTRINSIC
low complexity region	1376	1385	N/A	INTRINSIC
Pfam:DUF4585	1598	1667	6.9e-32	PFAM
low complexity region	1723	1738	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,154,360	D1583V	probably damaging	Het
Acp6	T	C	3: 97,175,738	L355P	probably damaging	Het
Aebp2	T	C	6: 140,633,738	S234P	probably damaging	Het
Anapc7	A	G	5: 122,439,504	D374G	probably benign	Het
Apob	A	T	12: 8,001,039	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,132,436	V92A	probably damaging	Het
Armc3	T	C	2: 19,293,142	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,484,558	G252*	probably null	Het
Atl1	A	T	12: 69,963,328	K556M	probably damaging	Het
AU018091	A	G	7: 3,162,264	V206A	probably benign	Het
Bcas1	A	T	2: 170,370,477	D383E	possibly damaging	Het
Bmx	A	G	X: 164,232,196	W257R	probably benign	Het
Bpifb6	T	C	2: 153,905,350		probably null	Het
Cacna1b	G	A	2: 24,732,306	P222L	probably damaging	Het
Cand1	A	G	10: 119,210,067	S978P	probably damaging	Het
Cap2	T	A	13: 46,637,881	Y175N	possibly damaging	Het
Caps2	G	A	10: 112,200,686	A384T	probably benign	Het
Catsperg2	A	T	7: 29,721,045	Y223*	probably null	Het
Cd81	G	T	7: 143,067,201	G206*	probably null	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 47,712,176	N167K	probably benign	Het
Ceacam14	T	A	7: 17,815,365	L227*	probably null	Het
Ceacam5	A	T	7: 17,757,880	D725V	probably damaging	Het
Cldn34a	A	T	X: 152,563,845	H171L	probably benign	Het
Col18a1	T	C	10: 77,081,154	I114V	unknown	Het
Cp	A	G	3: 19,979,013	D667G	probably damaging	Het
Cr2	G	A	1: 195,154,150	P1278S	possibly damaging	Het
Crat	A	G	2: 30,405,048	Y452H	possibly damaging	Het
Cyp4f13	T	A	17: 32,925,568	H318L	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dmbt1	A	G	7: 131,058,288	N527S	probably damaging	Het
Fgb	G	T	3: 83,044,253	Y256*	probably null	Het
Frmd3	T	A	4: 74,187,439	S441T	probably damaging	Het
Glp1r	T	A	17: 30,930,748	C329S	possibly damaging	Het
Gm13088	T	A	4: 143,654,268	Y395F	probably damaging	Het
Gm13757	A	G	2: 88,446,689	L83P	probably damaging	Het
Gm14190	G	T	11: 99,690,605	Q46K	unknown	Het
Golt1b	T	A	6: 142,392,354	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,801,899	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237	M229L	probably benign	Het
Gulp1	A	C	1: 44,766,114	N121T	possibly damaging	Het
Ift122	T	A	6: 115,924,367	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,716,206	Y199F	probably damaging	Het
Ints2	T	A	11: 86,248,934	H278L	possibly damaging	Het
Invs	T	C	4: 48,392,599	V271A	possibly damaging	Het
Kcnj2	T	C	11: 111,072,883	I367T	probably benign	Het
Kif21b	T	C	1: 136,161,770	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,806,818	C20S	unknown	Het
Lcmt2	C	A	2: 121,140,281	R107L	probably benign	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lrrc9	A	C	12: 72,497,861	R71S	probably damaging	Het
Mcc	C	A	18: 44,491,315	E213*	probably null	Het
Mis18bp1	T	C	12: 65,158,694	T235A	probably benign	Het
Mta2	C	T	19: 8,942,332		probably benign	Het
Nebl	T	A	2: 17,452,510	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764	T467A	probably benign	Het
Nexn	A	T	3: 152,252,939	F106I	probably damaging	Het
Nrd1	T	A	4: 109,039,775	Y282*	probably null	Het
Nxf3	G	A	X: 136,075,834	P380S	possibly damaging	Het
Olfr1183	A	G	2: 88,461,342	M1V	probably null	Het
Olfr1426	C	A	19: 12,088,256	V179F	probably damaging	Het
Olfr403	T	C	11: 74,196,163	V220A	probably damaging	Het
Olfr490	C	A	7: 108,286,359	G256*	probably null	Het
Olfr495	A	G	7: 108,395,834	Y238C	probably benign	Het
Olfr643	A	T	7: 104,059,128	I158N	possibly damaging	Het
Olfr685	A	T	7: 105,181,014	C115S	probably damaging	Het
Oma1	C	T	4: 103,321,774	T208I	probably damaging	Het
Panx2	A	T	15: 89,069,738	Y632F	possibly damaging	Het
Pdia4	T	C	6: 47,796,655	T587A	probably benign	Het
Piezo2	A	T	18: 63,074,662	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494	Y212N	probably damaging	Het
Prl3b1	C	T	13: 27,245,792	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,942,429	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,563,717	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,035,965	T188S	probably damaging	Het
Slc12a2	A	G	18: 57,910,286	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,191,869	I60N	probably benign	Het
Slc2a3	C	T	6: 122,736,735	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,886,594	T146M	probably damaging	Het
Specc1	C	A	11: 62,029,294	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,423,810	D229G	probably benign	Het
Sspo	T	C	6: 48,451,050	I154T	probably benign	Het
Stx5a	T	C	19: 8,748,890		probably null	Het
Stxbp6	A	T	12: 44,855,857	C210*	probably null	Het
Tagap1	C	T	17: 6,956,886	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,271,303	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,549,470	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,511,525	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,890,624	M606K	probably benign	Het
Trim46	A	T	3: 89,237,701	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,276,322	S1485L	probably benign	Het
Txnl1	T	C	18: 63,679,514	T70A	probably benign	Het
Unc80	T	C	1: 66,692,549	L3053P	probably damaging	Het
Wars	G	T	12: 108,888,433	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,544,884	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191	V21E	probably damaging	Het
Zfp493	T	A	13: 67,786,269	C114S	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	138066805	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	138066264	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	138066264	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	138068113	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	138068113	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	138069871	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	138065834	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	138067304	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	138070306	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	138068244	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	138068943	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	138068225	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	138069871	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	138070077	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	138067206	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	138066871	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	138067900	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	138067552	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	138065401	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	138069420	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	138066718	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	138067270	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	138067267	missense	probably damaging	1.00
R1991:1110002E22Rik	UTSW	3	138065658	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	138065173	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	138067780	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	138065682	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	138068407	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	138066639	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	138068073	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	138070266	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	138069759	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	138068485	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	138069990	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	138065742	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	138065370	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	138065676	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	138069019	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	138069672	missense	probably benign
R5206:1110002E22Rik	UTSW	3	138066511	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	138065850	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	138067635	missense	probably benign
R5374:1110002E22Rik	UTSW	3	138067635	missense	probably benign
R5506:1110002E22Rik	UTSW	3	138067947	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	138066499	missense	probably benign
R5536:1110002E22Rik	UTSW	3	138066388	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	138065409	missense	probably benign
R5759:1110002E22Rik	UTSW	3	138068658	missense	probably benign
R5933:1110002E22Rik	UTSW	3	138070348	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	138070161	missense	probably benign
R6092:1110002E22Rik	UTSW	3	138068940	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	138067980	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	138066622	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	138066975	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	138068800	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	138067527	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	138066625	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	138069154	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	138066210	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	138065169	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	138068050	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	138065511	missense	probably benign
R7145:1110002E22Rik	UTSW	3	138070059	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	138069951	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	138065476	missense	probably benign
R7425:1110002E22Rik	UTSW	3	138065695	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	138066868	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	138068283	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	138066126	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	138068755	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	138069601	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	138068395	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	138067782	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	138066450	missense	probably benign
R8434:1110002E22Rik	UTSW	3	138067260	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	138068825	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	138066037	missense	probably benign
R8808:1110002E22Rik	UTSW	3	138070113	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	138066759	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	138065148	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	138069916	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	138066628	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	138066703	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	138066078	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	138065422	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	138066287	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	138065834	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	138067005	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	138068506	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	138065365	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	138065133	missense	probably benign
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGAATGGAAGGCGGTAC -3'
(R):5'- AAGGCCATTGTCTTCTGCAC -3'

Sequencing Primer
(F):5'- GGTACGTCTGACATGAACTCACAG -3'
(R):5'- TCTGCACTGTCCACCAGG -3'

Posted On

2014-08-25