Mutagenetix > Incidental Mutation

Incidental Mutation 'R8434:1110002E22Rik'

653882

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

067900-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R8434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137770813-137787267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137773021 bp (GRCm39)

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: 88,556,260 (GRCm39)	Y158C	probably damaging	Het
Abhd18	T	A	3: 40,885,331 (GRCm39)	S239T	possibly damaging	Het
Ankrd13b	G	A	11: 77,368,552 (GRCm39)	T56I	probably benign	Het
Arhgef10l	T	A	4: 140,291,582 (GRCm39)	Q454L	possibly damaging	Het
Atp1a2	T	C	1: 172,112,179 (GRCm39)	E572G	probably benign	Het
Cdk5rap2	T	C	4: 70,282,257 (GRCm39)	H164R	probably benign	Het
Clca4b	A	G	3: 144,631,917 (GRCm39)	M196T	probably benign	Het
Cnbd1	T	G	4: 19,055,045 (GRCm39)	K127T	probably benign	Het
Cog3	A	T	14: 75,979,836 (GRCm39)	V165E	probably damaging	Het
Crim1	G	A	17: 78,654,686 (GRCm39)	R654H	probably benign	Het
Ctnnb1	G	A	9: 120,786,628 (GRCm39)	V617I	possibly damaging	Het
Dach1	T	A	14: 98,406,129 (GRCm39)	Q206L	probably damaging	Het
Dhx30	C	T	9: 109,929,974 (GRCm39)	V41I	probably benign	Het
Dnase2a	T	C	8: 85,636,410 (GRCm39)	L176P	probably damaging	Het
Dpp10	T	C	1: 123,360,739 (GRCm39)	D262G	probably damaging	Het
Dsel	T	A	1: 111,789,385 (GRCm39)	E383D	probably damaging	Het
Flt1	T	A	5: 147,576,253 (GRCm39)	Y585F	probably damaging	Het
Fubp1	T	A	3: 151,926,190 (GRCm39)	I304N	probably damaging	Het
Gab2	A	G	7: 96,948,337 (GRCm39)	D309G	probably damaging	Het
Gon4l	T	C	3: 88,762,086 (GRCm39)	V291A	probably damaging	Het
Gpam	C	T	19: 55,070,063 (GRCm39)	V398M	possibly damaging	Het
Grin3b	C	T	10: 79,810,422 (GRCm39)	R643C	probably damaging	Het
Hdac3	T	A	18: 38,074,475 (GRCm39)	H339L	possibly damaging	Het
Hsdl2	A	T	4: 59,610,621 (GRCm39)	Q326L	unknown	Het
Insr	T	C	8: 3,215,514 (GRCm39)		probably benign	Het
Ivl	T	A	3: 92,479,943 (GRCm39)	T41S	probably benign	Het
Lama4	C	T	10: 38,902,703 (GRCm39)	P226S	possibly damaging	Het
Lpin1	A	G	12: 16,613,621 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,104,721 (GRCm39)	N81K	probably damaging	Het
Mast4	A	T	13: 102,897,900 (GRCm39)	H838Q	probably damaging	Het
Mcmdc2	A	G	1: 9,990,806 (GRCm39)	M314V	possibly damaging	Het
Me3	A	G	7: 89,389,086 (GRCm39)	E130G	probably damaging	Het
Mpnd	A	G	17: 56,316,405 (GRCm39)	D28G	possibly damaging	Het
Mtch2	G	T	2: 90,683,208 (GRCm39)	E102*	probably null	Het
Myh13	A	T	11: 67,254,011 (GRCm39)		probably null	Het
Or10ag55-ps1	G	A	2: 87,114,978 (GRCm39)	V115I	probably benign	Het
Or5ae2	C	A	7: 84,506,497 (GRCm39)	H309N	probably benign	Het
Plch2	T	A	4: 155,074,192 (GRCm39)	D891V	probably damaging	Het
Ppfibp2	T	C	7: 107,327,957 (GRCm39)		probably null	Het
Rag1	A	G	2: 101,473,009 (GRCm39)	L711P	probably damaging	Het
Sacs	T	A	14: 61,450,636 (GRCm39)	Y4227*	probably null	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sema3a	T	C	5: 13,523,487 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,563 (GRCm39)	G219R	probably damaging	Het
Sp1	C	T	15: 102,318,118 (GRCm39)	L546F	probably benign	Het
Syne1	T	C	10: 5,073,057 (GRCm39)	N1256S	probably benign	Het
Tbc1d5	G	T	17: 51,089,455 (GRCm39)		probably benign	Het
Tns1	T	C	1: 73,964,765 (GRCm39)	S33G	probably benign	Het
Tpsab1	A	G	17: 25,564,445 (GRCm39)	L3P	possibly damaging	Het
Trgv3	A	G	13: 19,427,036 (GRCm39)	T8A	probably benign	Het
Vav2	A	T	2: 27,159,050 (GRCm39)		probably benign	Het
Vmn1r44	T	C	6: 89,870,610 (GRCm39)	S119P	possibly damaging	Het
Vmn2r31	A	G	7: 7,387,699 (GRCm39)	L624P	probably damaging	Het
Vps33a	A	T	5: 123,671,944 (GRCm39)	W475R	possibly damaging	Het
Xpnpep3	G	T	15: 81,311,795 (GRCm39)	R167L	possibly damaging	Het
Zfhx4	T	A	3: 5,463,918 (GRCm39)	S1384T	probably damaging	Het
Zfp3	G	A	11: 70,663,384 (GRCm39)	E448K	probably benign	Het
Zfp362	T	A	4: 128,679,769 (GRCm39)	H299L	probably damaging	Het
Zfp664	C	T	5: 124,962,827 (GRCm39)	L74F	possibly damaging	Het
Zfp808	A	G	13: 62,319,926 (GRCm39)	Y385C	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	137,772,566 (GRCm39)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	137,773,065 (GRCm39)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	137,776,067 (GRCm39)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	137,774,005 (GRCm39)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	137,774,704 (GRCm39)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	137,773,986 (GRCm39)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	137,775,838 (GRCm39)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	137,772,967 (GRCm39)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	137,772,632 (GRCm39)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	137,773,661 (GRCm39)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	137,773,313 (GRCm39)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	137,771,162 (GRCm39)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	137,775,181 (GRCm39)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	137,772,479 (GRCm39)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	137,773,031 (GRCm39)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	137,773,028 (GRCm39)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	137,770,934 (GRCm39)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	137,773,541 (GRCm39)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	137,771,443 (GRCm39)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	137,774,168 (GRCm39)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	137,772,400 (GRCm39)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	137,773,834 (GRCm39)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	137,776,027 (GRCm39)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	137,775,520 (GRCm39)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	137,774,246 (GRCm39)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	137,775,751 (GRCm39)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	137,771,503 (GRCm39)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	137,771,131 (GRCm39)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	137,771,437 (GRCm39)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	137,774,780 (GRCm39)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	137,775,433 (GRCm39)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	137,772,272 (GRCm39)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	137,771,611 (GRCm39)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	137,773,708 (GRCm39)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	137,772,260 (GRCm39)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	137,772,149 (GRCm39)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	137,771,170 (GRCm39)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	137,774,419 (GRCm39)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	137,776,109 (GRCm39)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	137,775,922 (GRCm39)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	137,774,701 (GRCm39)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	137,773,741 (GRCm39)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	137,772,383 (GRCm39)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	137,772,736 (GRCm39)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	137,774,561 (GRCm39)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	137,773,288 (GRCm39)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	137,772,386 (GRCm39)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	137,774,915 (GRCm39)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	137,771,971 (GRCm39)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	137,770,930 (GRCm39)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	137,773,811 (GRCm39)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	137,771,272 (GRCm39)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	137,775,820 (GRCm39)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	137,775,712 (GRCm39)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	137,771,237 (GRCm39)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	137,771,456 (GRCm39)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	137,772,629 (GRCm39)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	137,774,044 (GRCm39)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	137,771,887 (GRCm39)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	137,774,516 (GRCm39)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	137,775,362 (GRCm39)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	137,774,156 (GRCm39)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	137,773,543 (GRCm39)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	137,772,211 (GRCm39)	missense	probably benign
R8530:1110002E22Rik	UTSW	3	137,774,586 (GRCm39)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	137,771,798 (GRCm39)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	137,775,874 (GRCm39)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	137,772,520 (GRCm39)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	137,770,909 (GRCm39)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	137,775,677 (GRCm39)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	137,772,389 (GRCm39)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	137,772,464 (GRCm39)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	137,771,839 (GRCm39)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	137,771,183 (GRCm39)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	137,772,048 (GRCm39)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	137,772,766 (GRCm39)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	137,774,267 (GRCm39)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	137,771,126 (GRCm39)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	137,770,894 (GRCm39)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	137,774,857 (GRCm39)	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