Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:1110002E22Rik'

461989

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138070348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1766 (P1766L)

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: P1766L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: P1766L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184925

Meta Mutation Damage Score

0.1453

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,249,658 (GRCm38)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,760,130 (GRCm38)	G240R	probably damaging	Het
Aipl1	A	C	11: 72,030,282 (GRCm38)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,509,696 (GRCm38)	A154T	probably benign	Het
Arglu1	T	C	8: 8,690,047 (GRCm38)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,337,280 (GRCm38)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,232,274 (GRCm38)	I796T	possibly damaging	Het
Birc6	T	A	17: 74,599,238 (GRCm38)	S72T	probably damaging	Het
Birc6	C	G	17: 74,599,237 (GRCm38)	S1374R	probably damaging	Het
Bmpr1b	T	C	3: 141,871,367 (GRCm38)	*59W	probably null	Het
Btbd16	A	T	7: 130,784,281 (GRCm38)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,612,580 (GRCm38)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,215,446 (GRCm38)	E541K	probably benign	Het
Card9	T	C	2: 26,352,497 (GRCm38)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,704,105 (GRCm38)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,948,342 (GRCm38)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,984,671 (GRCm38)	D550A	probably damaging	Het
Cdhr1	T	A	14: 37,089,462 (GRCm38)	T231S	probably benign	Het
Cenpe	T	C	3: 135,261,628 (GRCm38)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,640,183 (GRCm38)	C161R	probably damaging	Het
Ctsd	C	T	7: 142,376,579 (GRCm38)	V403I	probably benign	Het
Cyth1	C	T	11: 118,185,759 (GRCm38)		probably null	Het
Dazl	A	T	17: 50,287,753 (GRCm38)		probably null	Het
Disp3	A	T	4: 148,241,313 (GRCm38)	C1329*	probably null	Het
Dld	C	T	12: 31,333,983 (GRCm38)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,519,215 (GRCm38)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,275,568 (GRCm38)	M144K	probably benign	Het
Drc1	A	T	5: 30,345,529 (GRCm38)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,066,004 (GRCm38)	D269G	probably benign	Het
Ephx4	T	A	5: 107,403,765 (GRCm38)		probably null	Het
Evl	T	C	12: 108,683,257 (GRCm38)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,465,680 (GRCm38)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,284,051 (GRCm38)	D1945E	probably damaging	Het
Fat4	T	C	3: 38,951,375 (GRCm38)		probably null	Het
Fbln7	A	T	2: 128,877,498 (GRCm38)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,106 (GRCm38)	V353A	probably damaging	Het
Fry	T	C	5: 150,390,800 (GRCm38)		probably benign	Het
Galnt14	A	T	17: 73,526,305 (GRCm38)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,684,291 (GRCm38)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,871,204 (GRCm38)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,094,807 (GRCm38)	H655R	probably damaging	Het
Hk1	A	G	10: 62,269,994 (GRCm38)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,970,603 (GRCm38)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,716,569 (GRCm38)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,302,981 (GRCm38)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,637,979 (GRCm38)	T311A	possibly damaging	Het
Kl	A	G	5: 150,989,483 (GRCm38)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,723,260 (GRCm38)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,138,609 (GRCm38)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,571,327 (GRCm38)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,498,951 (GRCm38)	V272I	probably benign	Het
Muc4	A	G	16: 32,753,052 (GRCm38)	T977A	probably benign	Het
Nebl	G	A	2: 17,404,187 (GRCm38)	H367Y	probably benign	Het
Nop58	T	A	1: 59,704,665 (GRCm38)	Y274*	probably null	Het
Nuak1	T	A	10: 84,374,802 (GRCm38)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,998,505 (GRCm38)	S7523P	unknown	Het
Olfr625-ps1	T	A	7: 103,683,473 (GRCm38)	C242S	probably damaging	Het
Oosp3	T	A	19: 11,705,389 (GRCm38)	D140E	probably benign	Het
Padi2	G	A	4: 140,917,641 (GRCm38)	R62H	probably benign	Het
Patl1	A	G	19: 11,939,772 (GRCm38)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,698,473 (GRCm38)	N238K	probably benign	Het
Pmch	A	G	10: 88,091,149 (GRCm38)	T5A	probably benign	Het
Polr3h	A	G	15: 81,916,634 (GRCm38)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,687,723 (GRCm38)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,402,513 (GRCm38)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,158,752 (GRCm38)		probably benign	Het
Sh3glb2	A	T	2: 30,350,389 (GRCm38)		probably null	Het
Slc46a3	A	T	5: 147,893,890 (GRCm38)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,393,995 (GRCm38)	N425K	probably benign	Het
Slfn14	A	T	11: 83,279,462 (GRCm38)	V452E	probably damaging	Het
Slfn8	A	T	11: 83,003,335 (GRCm38)	M826K	probably benign	Het
Slit3	G	A	11: 35,629,751 (GRCm38)	V572M	probably benign	Het
Smr3a	C	A	5: 88,008,014 (GRCm38)		probably null	Het
Snap29	T	C	16: 17,406,330 (GRCm38)	S70P	probably damaging	Het
Svopl	T	A	6: 38,017,014 (GRCm38)		probably benign	Het
Tbc1d17	A	T	7: 44,845,337 (GRCm38)	F186I	probably damaging	Het
Tgm6	T	C	2: 130,141,256 (GRCm38)	V255A	probably damaging	Het
Tjp1	G	T	7: 65,302,852 (GRCm38)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,597,347 (GRCm38)	E176D	probably benign	Het
Tmem102	C	T	11: 69,803,680 (GRCm38)	V489I	probably damaging	Het
Ttn	A	G	2: 76,721,437 (GRCm38)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,073,359 (GRCm38)		probably null	Het
Uaca	T	A	9: 60,840,956 (GRCm38)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,127,449 (GRCm38)		probably benign	Het
Usp29	A	T	7: 6,961,745 (GRCm38)	T196S	probably benign	Het
Usp37	A	G	1: 74,485,982 (GRCm38)	S228P	probably damaging	Het
Usp42	C	A	5: 143,715,515 (GRCm38)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,737,850 (GRCm38)	L835F	probably benign	Het
Vps13a	T	C	19: 16,660,530 (GRCm38)	T2396A	probably benign	Het
Whrn	A	T	4: 63,494,708 (GRCm38)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,680,621 (GRCm38)	F410S	probably damaging	Het
Zfp616	T	C	11: 74,083,126 (GRCm38)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,744,107 (GRCm38)		noncoding transcript	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
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
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'- AGTGAGCTCTCTGTGGCTAC -3'
(R):5'- TTTCTGGAACACCCATGTCTACAG -3'

Sequencing Primer
(F):5'- TGAAGCCCCGTACTTCAT -3'
(R):5'- TGGAACACCCATGTCTACAGATAGC -3'

Posted On

2017-02-28