Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:1110002E22Rik'

32935

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

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

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138066264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 405 (T405A)

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: T405A

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

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T405A

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

0.0774

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer1	A	T	17: 56,955,624 (GRCm38)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,569,342 (GRCm38)	I395V	probably benign	Het
Adamts9	G	A	6: 92,905,306 (GRCm38)		probably benign	Het
Amigo3	T	C	9: 108,054,658 (GRCm38)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,684,063 (GRCm38)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,561,992 (GRCm38)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,265,621 (GRCm38)		probably null	Het
Arid4a	T	G	12: 71,075,419 (GRCm38)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,268,302 (GRCm38)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,055,569 (GRCm38)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,908,192 (GRCm38)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,406,686 (GRCm38)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,346,790 (GRCm38)		probably benign	Het
Camk2g	G	A	14: 20,771,068 (GRCm38)		probably benign	Het
Capn12	G	A	7: 28,890,387 (GRCm38)		probably null	Het
Cdkl4	T	G	17: 80,550,845 (GRCm38)	N115T	probably benign	Het
Chchd1	T	C	14: 20,704,163 (GRCm38)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,115,257 (GRCm38)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,495,921 (GRCm38)		probably benign	Het
Crh	T	C	3: 19,694,037 (GRCm38)	E147G	probably damaging	Het
Cux1	T	C	5: 136,363,253 (GRCm38)		probably benign	Het
Cyp2b19	T	A	7: 26,766,826 (GRCm38)	D351E	probably benign	Het
Dctn1	G	T	6: 83,182,632 (GRCm38)	G31*	probably null	Het
Duox1	T	A	2: 122,346,641 (GRCm38)		probably benign	Het
Egflam	T	G	15: 7,253,430 (GRCm38)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,345,146 (GRCm38)	N73S	probably benign	Het
Ffar4	A	G	19: 38,114,004 (GRCm38)		probably benign	Het
Glg1	A	T	8: 111,165,582 (GRCm38)	M866K	probably damaging	Het
Golm1	T	A	13: 59,645,100 (GRCm38)	H197L	probably benign	Het
Gtse1	A	G	15: 85,862,378 (GRCm38)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,733,378 (GRCm38)		probably benign	Het
Hrc	T	A	7: 45,336,689 (GRCm38)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,288,168 (GRCm38)		probably benign	Het
Ihh	A	G	1: 74,946,591 (GRCm38)	I245T	probably benign	Het
Ilf3	T	A	9: 21,388,714 (GRCm38)	M65K	possibly damaging	Het
Insr	A	G	8: 3,202,947 (GRCm38)	V404A	probably damaging	Het
Irak2	G	A	6: 113,678,738 (GRCm38)	V367I	probably benign	Het
Irak2	G	T	6: 113,672,953 (GRCm38)		probably benign	Het
Kat7	A	C	11: 95,300,208 (GRCm38)	N119K	probably benign	Het
Kif9	A	G	9: 110,485,038 (GRCm38)	I33V	probably benign	Het
Klf17	A	G	4: 117,761,032 (GRCm38)	Y43H	probably benign	Het
Kng2	T	A	16: 22,987,563 (GRCm38)	T629S	possibly damaging	Het
Lama1	A	T	17: 67,795,186 (GRCm38)		probably benign	Het
Lamb1	T	C	12: 31,278,601 (GRCm38)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,661,800 (GRCm38)		probably benign	Het
Lrp12	T	C	15: 39,878,239 (GRCm38)	E360G	probably damaging	Het
Mark2	A	C	19: 7,283,577 (GRCm38)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm38)		probably benign	Het
Mthfd1l	T	A	10: 3,978,727 (GRCm38)		probably benign	Het
Mtr	A	T	13: 12,222,226 (GRCm38)	S569T	probably damaging	Het
Myh13	T	A	11: 67,367,237 (GRCm38)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,156,207 (GRCm38)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,595,053 (GRCm38)	L72*	probably null	Het
Numa1	A	G	7: 102,009,453 (GRCm38)	K296E	probably damaging	Het
Or51ab3	A	T	7: 103,552,322 (GRCm38)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,269,211 (GRCm38)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,502,589 (GRCm38)	E82G	probably benign	Het
Or5h18	T	A	16: 59,027,224 (GRCm38)	M228L	probably benign	Het
Or5p80	A	G	7: 108,630,552 (GRCm38)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,321,268 (GRCm38)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,684,556 (GRCm38)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,743,590 (GRCm38)		probably benign	Het
Pnpla7	A	T	2: 25,011,606 (GRCm38)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,196,696 (GRCm38)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,861,573 (GRCm38)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,231,789 (GRCm38)		probably benign	Het
Rapgef6	T	A	11: 54,546,378 (GRCm38)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469 (GRCm38)	V15G	probably benign	Het
Rnf219	T	A	14: 104,503,344 (GRCm38)		probably null	Het
Rtel1	T	G	2: 181,323,405 (GRCm38)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,903,672 (GRCm38)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,240,284 (GRCm38)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 32,850,276 (GRCm38)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,287,362 (GRCm38)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm38)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,336,242 (GRCm38)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,234,954 (GRCm38)		probably benign	Het
Snx13	C	A	12: 35,101,124 (GRCm38)		probably benign	Het
Snx25	C	T	8: 46,041,365 (GRCm38)	A828T	probably damaging	Het
Spic	A	G	10: 88,675,941 (GRCm38)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,374,820 (GRCm38)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,313,378 (GRCm38)		probably benign	Het
Tbx3	A	T	5: 119,680,446 (GRCm38)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,629,613 (GRCm38)	I469T	probably benign	Het
Tln2	A	G	9: 67,240,672 (GRCm38)		probably benign	Het
Top2a	T	A	11: 98,997,856 (GRCm38)	I1260L	probably benign	Het
Treml1	C	A	17: 48,364,980 (GRCm38)	S91*	probably null	Het
Trim26	T	C	17: 36,857,864 (GRCm38)		probably benign	Het
Trmt11	T	C	10: 30,535,243 (GRCm38)	N418S	probably benign	Het
Ttf1	A	G	2: 29,084,655 (GRCm38)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,464,403 (GRCm38)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,811,650 (GRCm38)	V728A	probably benign	Het
Vps4a	T	C	8: 107,036,701 (GRCm38)	L29P	probably damaging	Het
Wdfy3	A	G	5: 101,944,033 (GRCm38)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,010,287 (GRCm38)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,911,299 (GRCm38)	V147E	probably damaging	Het
Zan	A	G	5: 137,403,656 (GRCm38)	M4058T	unknown	Het
Zfp236	C	T	18: 82,680,692 (GRCm38)	C88Y	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	138,066,805 (GRCm38)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	138,066,264 (GRCm38)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	138,068,113 (GRCm38)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	138,068,113 (GRCm38)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	138,069,871 (GRCm38)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	138,065,834 (GRCm38)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	138,067,304 (GRCm38)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	138,070,306 (GRCm38)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	138,068,244 (GRCm38)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	138,068,943 (GRCm38)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	138,068,225 (GRCm38)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	138,069,871 (GRCm38)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	138,070,077 (GRCm38)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	138,067,206 (GRCm38)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	138,066,871 (GRCm38)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	138,067,900 (GRCm38)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	138,067,552 (GRCm38)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	138,065,401 (GRCm38)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	138,069,420 (GRCm38)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	138,066,718 (GRCm38)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	138,067,270 (GRCm38)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	138,067,267 (GRCm38)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	138,065,658 (GRCm38)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	138,065,658 (GRCm38)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	138,065,173 (GRCm38)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	138,067,780 (GRCm38)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	138,065,682 (GRCm38)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	138,068,407 (GRCm38)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	138,066,639 (GRCm38)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	138,068,073 (GRCm38)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	138,070,266 (GRCm38)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	138,069,759 (GRCm38)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	138,068,485 (GRCm38)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	138,069,990 (GRCm38)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	138,065,742 (GRCm38)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	138,065,370 (GRCm38)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	138,065,676 (GRCm38)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	138,069,019 (GRCm38)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	138,069,672 (GRCm38)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	138,066,511 (GRCm38)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	138,065,850 (GRCm38)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	138,067,635 (GRCm38)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	138,067,635 (GRCm38)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	138,067,947 (GRCm38)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	138,066,499 (GRCm38)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	138,066,388 (GRCm38)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	138,065,409 (GRCm38)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	138,068,658 (GRCm38)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	138,070,348 (GRCm38)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	138,070,161 (GRCm38)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	138,068,940 (GRCm38)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	138,067,980 (GRCm38)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	138,066,622 (GRCm38)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	138,066,975 (GRCm38)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	138,068,800 (GRCm38)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	138,067,527 (GRCm38)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	138,066,625 (GRCm38)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	138,069,154 (GRCm38)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	138,066,210 (GRCm38)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	138,065,169 (GRCm38)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	138,068,050 (GRCm38)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	138,065,511 (GRCm38)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	138,070,059 (GRCm38)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	138,069,951 (GRCm38)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	138,065,476 (GRCm38)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	138,065,695 (GRCm38)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	138,066,868 (GRCm38)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	138,068,283 (GRCm38)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	138,066,126 (GRCm38)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	138,068,755 (GRCm38)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	138,069,601 (GRCm38)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	138,068,395 (GRCm38)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	138,067,782 (GRCm38)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	138,066,450 (GRCm38)	missense	probably benign
R8434:1110002E22Rik	UTSW	3	138,067,260 (GRCm38)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	138,068,825 (GRCm38)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	138,066,037 (GRCm38)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	138,070,113 (GRCm38)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	138,066,759 (GRCm38)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	138,065,148 (GRCm38)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	138,069,916 (GRCm38)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	138,066,628 (GRCm38)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	138,066,703 (GRCm38)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	138,066,078 (GRCm38)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	138,065,422 (GRCm38)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	138,066,287 (GRCm38)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	138,065,834 (GRCm38)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	138,067,005 (GRCm38)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	138,068,506 (GRCm38)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	138,065,365 (GRCm38)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	138,065,133 (GRCm38)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	138,069,096 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGAAACGAGGATGCACACTAC -3'
(R):5'- ACGTTGCTAGGCTCATTTATAGCCC -3'

Sequencing Primer
(F):5'- CGAGGATGCACACTACATCAC -3'
(R):5'- AGGATCTGGCTTGCTGCAC -3'

Posted On

2013-05-09