Mutagenetix > Incidental Mutations

Incidental Mutation 'R8434:1110002E22Rik'

653882

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R8434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138067260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 737 (T737A)

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 damaging
Transcript: ENSMUST00000163080
AA Change: T737A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T737A

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,759,372	Y158C	probably damaging	Het
Abhd18	T	A	3: 40,930,896	S239T	possibly damaging	Het
Ankrd13b	G	A	11: 77,477,726	T56I	probably benign	Het
Arhgef10l	T	A	4: 140,564,271	Q454L	possibly damaging	Het
Atp1a2	T	C	1: 172,284,612	E572G	probably benign	Het
Cdk5rap2	T	C	4: 70,364,020	H164R	probably benign	Het
Clca4b	A	G	3: 144,926,156	M196T	probably benign	Het
Cnbd1	T	G	4: 19,055,045	K127T	probably benign	Het
Cog3	A	T	14: 75,742,396	V165E	probably damaging	Het
Crim1	G	A	17: 78,347,257	R654H	probably benign	Het
Ctnnb1	G	A	9: 120,957,562	V617I	possibly damaging	Het
Dach1	T	A	14: 98,168,693	Q206L	probably damaging	Het
Dhx30	C	T	9: 110,100,906	V41I	probably benign	Het
Dnase2a	T	C	8: 84,909,781	L176P	probably damaging	Het
Dpp10	T	C	1: 123,433,010	D262G	probably damaging	Het
Dsel	T	A	1: 111,861,655	E383D	probably damaging	Het
Flt1	T	A	5: 147,639,443	Y585F	probably damaging	Het
Fubp1	T	A	3: 152,220,553	I304N	probably damaging	Het
Gab2	A	G	7: 97,299,130	D309G	probably damaging	Het
Gon4l	T	C	3: 88,854,779	V291A	probably damaging	Het
Gpam	C	T	19: 55,081,631	V398M	possibly damaging	Het
Grin3b	C	T	10: 79,974,588	R643C	probably damaging	Het
Hdac3	T	A	18: 37,941,422	H339L	possibly damaging	Het
Hsdl2	A	T	4: 59,610,621	Q326L	unknown	Het
Insr	T	C	8: 3,165,514		probably benign	Het
Ivl	T	A	3: 92,572,636	T41S	probably benign	Het
Lama4	C	T	10: 39,026,707	P226S	possibly damaging	Het
Lpin1	A	G	12: 16,563,620		probably null	Het
Lrrc42	A	T	4: 107,247,524	N81K	probably damaging	Het
Mast4	A	T	13: 102,761,392	H838Q	probably damaging	Het
Mcmdc2	A	G	1: 9,920,581	M314V	possibly damaging	Het
Me3	A	G	7: 89,739,878	E130G	probably damaging	Het
Mpnd	A	G	17: 56,009,405	D28G	possibly damaging	Het
Mtch2	G	T	2: 90,852,864	E102*	probably null	Het
Myh13	A	T	11: 67,363,185		probably null	Het
Olfr1117-ps1	G	A	2: 87,284,634	V115I	probably benign	Het
Olfr291	C	A	7: 84,857,289	H309N	probably benign	Het
Plch2	T	A	4: 154,989,735	D891V	probably damaging	Het
Ppfibp2	T	C	7: 107,728,750		probably null	Het
Rag1	A	G	2: 101,642,664	L711P	probably damaging	Het
Sacs	T	A	14: 61,213,187	Y4227*	probably null	Het
Sec23ip	C	T	7: 128,750,427	H176Y	probably benign	Het
Sema3a	T	C	5: 13,473,520		probably null	Het
Serpina10	C	T	12: 103,628,304	G219R	probably damaging	Het
Sp1	C	T	15: 102,409,683	L546F	probably benign	Het
Syne1	T	C	10: 5,123,057	N1256S	probably benign	Het
Tbc1d5	G	T	17: 50,782,427		probably benign	Het
Tcrg-V3	A	G	13: 19,242,866	T8A	probably benign	Het
Tns1	T	C	1: 73,925,606	S33G	probably benign	Het
Tpsab1	A	G	17: 25,345,471	L3P	possibly damaging	Het
Vav2	A	T	2: 27,269,038		probably benign	Het
Vmn1r44	T	C	6: 89,893,628	S119P	possibly damaging	Het
Vmn2r31	A	G	7: 7,384,700	L624P	probably damaging	Het
Vps33a	A	T	5: 123,533,881	W475R	possibly damaging	Het
Xpnpep3	G	T	15: 81,427,594	R167L	possibly damaging	Het
Zfhx4	T	A	3: 5,398,858	S1384T	probably damaging	Het
Zfp3	G	A	11: 70,772,558	E448K	probably benign	Het
Zfp362	T	A	4: 128,785,976	H299L	probably damaging	Het
Zfp664	C	T	5: 124,885,763	L74F	possibly damaging	Het
Zfp808	A	G	13: 62,172,112	Y385C	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
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
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGTCAACCTTCCTGGAC -3'
(R):5'- GGCTGGAAGCGAATTTGGAC -3'

Sequencing Primer
(F):5'- ACCTTCCTGGACTTAAAATGTGGAGG -3'
(R):5'- CTGGAAGCGAATTTGGACTTCTTC -3'

Posted On

2020-10-20