Mutagenetix > Incidental Mutation

Incidental Mutation 'R5506:1110002E22Rik'

430909

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

043067-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R5506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138067947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 966 (G966W)

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: G966W

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

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: G966W

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

0.1063

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,188,956 (GRCm38)		probably benign	Het
A930009A15Rik	G	T	10: 115,578,362 (GRCm38)		probably null	Het
Cant1	G	T	11: 118,411,442 (GRCm38)	H16Q	probably benign	Het
Capn3	G	T	2: 120,502,420 (GRCm38)	V612F	probably damaging	Het
Cep112	A	T	11: 108,664,603 (GRCm38)	E141D	probably damaging	Het
Cept1	A	G	3: 106,531,248 (GRCm38)	V173A	probably benign	Het
CN725425	A	G	15: 91,235,826 (GRCm38)	D50G	possibly damaging	Het
Cubn	A	T	2: 13,491,695 (GRCm38)		probably null	Het
Dnajb12	GC	G	10: 59,892,752 (GRCm38)		probably null	Het
Dpp8	A	G	9: 65,078,109 (GRCm38)		probably null	Het
Ecm1	G	A	3: 95,735,857 (GRCm38)	T377I	probably benign	Het
Exosc8	A	G	3: 54,731,179 (GRCm38)		probably benign	Het
Fam129b	G	A	2: 32,920,982 (GRCm38)	V335M	probably damaging	Het
Fam71f1	G	A	6: 29,319,298 (GRCm38)	E34K	probably damaging	Het
Fasn	C	T	11: 120,809,510 (GRCm38)	D2165N	probably benign	Het
Gab2	A	G	7: 97,303,113 (GRCm38)	E571G	probably damaging	Het
Galnt5	C	A	2: 57,999,625 (GRCm38)	H412Q	probably benign	Het
Galr1	T	A	18: 82,405,864 (GRCm38)	Y96F	possibly damaging	Het
Gm8882	T	C	6: 132,361,856 (GRCm38)	N133S	unknown	Het
Gnl2	C	A	4: 125,055,365 (GRCm38)		probably benign	Het
H2afx	T	C	9: 44,335,105 (GRCm38)	V115A	probably benign	Het
Heatr9	T	C	11: 83,514,766 (GRCm38)	N317S	possibly damaging	Het
Hist1h2an	A	C	13: 21,786,911 (GRCm38)	I103S	probably damaging	Het
Kndc1	A	G	7: 139,927,891 (GRCm38)	Y1254C	probably damaging	Het
Lrp6	A	T	6: 134,459,296 (GRCm38)	D1302E	probably benign	Het
Mc2r	A	T	18: 68,407,948 (GRCm38)	Y91*	probably null	Het
Meis1	T	G	11: 18,941,747 (GRCm38)	D267A	possibly damaging	Het
Mki67	T	C	7: 135,699,981 (GRCm38)	K1108R	possibly damaging	Het
Mroh2a	A	G	1: 88,258,664 (GRCm38)	S64G	probably benign	Het
Myh3	T	G	11: 67,084,089 (GRCm38)	D219E	probably damaging	Het
Olfr1511	T	C	14: 52,390,627 (GRCm38)	I49V	probably damaging	Het
Olfr857	T	C	9: 19,713,274 (GRCm38)	L149P	possibly damaging	Het
Pi4ka	A	G	16: 17,293,953 (GRCm38)	C1553R	probably damaging	Het
Plekhb1	C	A	7: 100,644,943 (GRCm38)		probably null	Het
Polr3d	A	T	14: 70,440,759 (GRCm38)	D165E	possibly damaging	Het
Psmb1	A	G	17: 15,490,216 (GRCm38)	Y24H	probably damaging	Het
Rab11fip5	A	G	6: 85,374,137 (GRCm38)	L131P	probably damaging	Het
Raph1	A	T	1: 60,493,498 (GRCm38)		probably benign	Het
Scgb2b27	T	G	7: 34,012,059 (GRCm38)		probably benign	Het
Serpina10	T	C	12: 103,626,661 (GRCm38)	D264G	probably damaging	Het
Sftpb	A	G	6: 72,304,667 (GRCm38)	T15A	possibly damaging	Het
Slc20a1	T	C	2: 129,210,819 (GRCm38)	F674L	probably benign	Het
Syne2	A	T	12: 75,938,721 (GRCm38)	N1648Y	probably benign	Het
Thsd7a	G	T	6: 12,332,017 (GRCm38)	N1265K	possibly damaging	Het
Trem2	T	C	17: 48,351,774 (GRCm38)	L189P	probably benign	Het
Washc4	A	T	10: 83,581,337 (GRCm38)	R865S	probably damaging	Het
Zfp536	A	G	7: 37,568,792 (GRCm38)	S400P	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
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
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'- AATGTCTCCGATGGACACAC -3'
(R):5'- TGAAGTCTGAGCTTGGCTGC -3'

Sequencing Primer
(F):5'- TCTCCGATGGACACACAGAAGTATG -3'
(R):5'- AGCTTGGCTGCTGTACAC -3'

Posted On

2016-10-05