Mutagenetix > Incidental Mutation

Incidental Mutation 'R8754:1110002E22Rik'

664020

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.492) question?

Stock #

R8754 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138066037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 329 (V329A)

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 benign
Transcript: ENSMUST00000163080
AA Change: V329A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V329A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	T	1: 11,545,248	K148N	probably benign	Het
Actn3	A	G	19: 4,863,460	F648L	probably damaging	Het
Amotl2	A	G	9: 102,720,159	D39G	possibly damaging	Het
Anks1	C	A	17: 27,996,010	T477K	possibly damaging	Het
Brix1	A	T	15: 10,476,578	S271T	probably benign	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Chrna6	T	C	8: 27,407,201	H216R	probably damaging	Het
Col6a3	C	G	1: 90,767,606		probably benign	Het
Copa	C	T	1: 172,108,359	R423W	probably damaging	Het
Cttnbp2	A	C	6: 18,434,038	I607R	possibly damaging	Het
Depdc5	A	T	5: 32,979,537	T1384S	probably benign	Het
Dlat	G	T	9: 50,649,667	A360E	probably damaging	Het
Dusp26	C	T	8: 31,091,777		probably benign	Het
Fam135a	G	A	1: 24,028,488	T1100M	probably benign	Het
Fuca1	T	C	4: 135,925,578	L171P	probably damaging	Het
Gm21936	T	A	12: 87,795,799	N96K	possibly damaging	Het
Gpr158	G	A	2: 21,576,882	V391I	probably benign	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Heatr1	T	A	13: 12,413,294	Y771N	probably damaging	Het
Il17ra	A	G	6: 120,481,456	T523A	probably benign	Het
Kcnv1	G	A	15: 45,114,469	Q58*	probably null	Het
Kdm5d	T	C	Y: 941,594	V1265A	probably damaging	Het
Kifc3	A	T	8: 95,102,396	L726Q	probably damaging	Het
Klk1b21	T	A	7: 44,106,488	I247N	probably benign	Het
Kntc1	T	A	5: 123,759,052	N159K	probably benign	Het
Krtap4-7	G	T	11: 99,643,841	C65*	probably null	Het
Lama2	C	T	10: 27,001,151	V2680M	possibly damaging	Het
Lipe	T	A	7: 25,388,582	M61L	probably benign	Het
Med17	A	G	9: 15,277,600	M123T	possibly damaging	Het
Mrpl37	T	C	4: 107,064,414	N206S	probably benign	Het
Muc4	A	T	16: 32,781,986	N1390Y		Het
Muc5ac	C	T	7: 141,800,271	A869V	possibly damaging	Het
Nckap5l	A	G	15: 99,429,409	V133A	probably benign	Het
Nin	A	T	12: 70,031,013		probably benign	Het
Nr1h2	C	T	7: 44,551,344	A287T	probably damaging	Het
Olfr894	A	T	9: 38,219,569	I246L	possibly damaging	Het
Patl1	A	G	19: 11,922,534	E230G	probably damaging	Het
Pbxip1	T	C	3: 89,447,928	S585P	probably damaging	Het
Pde3b	T	A	7: 114,416,043	W165R	possibly damaging	Het
Pdia4	A	C	6: 47,796,530	D628E	probably benign	Het
Pigo	T	A	4: 43,024,724	H125L	probably benign	Het
Platr25	A	T	13: 62,700,110	*313K	probably null	Het
Plxdc1	A	T	11: 97,955,511	M169K	possibly damaging	Het
Pxk	T	C	14: 8,151,496	I437T	probably damaging	Het
Rlf	T	C	4: 121,146,813	T1767A	possibly damaging	Het
Rnf123	T	A	9: 108,071,164	D110V	probably damaging	Het
Rnf185	A	T	11: 3,418,052	F209I	probably benign	Het
Rpl4	A	T	9: 64,174,960	N47I	probably damaging	Het
Rsl1d1	A	T	16: 11,199,648	F151L	probably damaging	Het
Sema3d	T	C	5: 12,553,224		probably null	Het
Serhl	A	G	15: 83,101,925	N80D	probably benign	Het
Sh3tc1	C	A	5: 35,706,458	R795L	probably benign	Het
Slc2a12	A	T	10: 22,645,217	T7S	probably benign	Het
Snrnp200	A	G	2: 127,226,085	Y834C	probably damaging	Het
Ss18	G	C	18: 14,640,959	Q258E	probably damaging	Het
Telo2	G	A	17: 25,102,067	L725F	probably damaging	Het
Tnxb	A	G	17: 34,715,908	E2497G	probably damaging	Het
Tox2	A	G	2: 163,321,440	D111G		Het
Trim16	G	A	11: 62,840,937	E545K	probably benign	Het
Trpm7	A	G	2: 126,822,703	W919R	probably damaging	Het
Ttbk1	G	T	17: 46,445,201	S1301*	probably null	Het
Txk	T	C	5: 72,731,779	N144S	probably damaging	Het
Ubqln4	T	A	3: 88,565,783	V515E	probably benign	Het
Ush2a	C	T	1: 188,848,965	R3681*	probably null	Het
Ythdf3	A	T	3: 16,203,974	N106I	probably damaging	Het
Zfp367	A	T	13: 64,144,255	C187*	probably null	Het
Zfp735	A	G	11: 73,712,174	D648G	possibly damaging	Het
Zic1	T	C	9: 91,362,648		probably benign	Het
Zik1	A	G	7: 10,489,899	S424P	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
R1990:1110002E22Rik	UTSW	3	138065658	nonsense	probably null
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
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'- GTGCAGAAGACAATGGCCTTTC -3'
(R):5'- GGTCTCATCACTGCCACCAAAG -3'

Sequencing Primer
(F):5'- TCCAAAATGGACGATCCCAC -3'
(R):5'- GTCCACGAATGAATAGATCACGTTG -3'

Posted On

2021-03-08