Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:1110002E22Rik'

189163

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138066805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 585 (I585N)

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

possibly damaging
Transcript: ENSMUST00000163080
AA Change: I585N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: I585N

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

0.0929

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,369 (GRCm38)	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372 (GRCm38)		probably benign	Het
Abca16	C	T	7: 120,477,923 (GRCm38)		probably benign	Het
Acot10	G	A	15: 20,666,236 (GRCm38)	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259 (GRCm38)	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893 (GRCm38)	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401 (GRCm38)	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367 (GRCm38)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733 (GRCm38)	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400 (GRCm38)		probably benign	Het
Cdc16	T	A	8: 13,759,130 (GRCm38)		probably null	Het
Cep135	C	T	5: 76,606,734 (GRCm38)	R353*	probably null	Het
Cma1	A	T	14: 55,942,164 (GRCm38)	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884 (GRCm38)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521 (GRCm38)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784 (GRCm38)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363 (GRCm38)	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917 (GRCm38)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691 (GRCm38)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909 (GRCm38)		probably benign	Het
Got1l1	C	T	8: 27,200,248 (GRCm38)	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527 (GRCm38)		probably benign	Het
Ibtk	A	G	9: 85,690,303 (GRCm38)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621 (GRCm38)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443 (GRCm38)	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708 (GRCm38)	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638 (GRCm38)	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435 (GRCm38)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204 (GRCm38)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023 (GRCm38)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429 (GRCm38)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573 (GRCm38)	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573 (GRCm38)	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803 (GRCm38)	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596 (GRCm38)	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801 (GRCm38)	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280 (GRCm38)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930 (GRCm38)		probably benign	Het
Prpf31	T	A	7: 3,639,668 (GRCm38)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161 (GRCm38)	S307P	probably benign	Het
Relt	C	A	7: 100,850,221 (GRCm38)	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617 (GRCm38)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741 (GRCm38)	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566 (GRCm38)	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668 (GRCm38)	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468 (GRCm38)		probably benign	Het
Slc35b1	T	C	11: 95,390,642 (GRCm38)	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053 (GRCm38)	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858 (GRCm38)	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772 (GRCm38)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236 (GRCm38)		probably null	Het
Taf1d	T	A	9: 15,308,648 (GRCm38)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073 (GRCm38)	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349 (GRCm38)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371 (GRCm38)		probably null	Het
Unc5b	A	T	10: 60,774,592 (GRCm38)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584 (GRCm38)	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196 (GRCm38)		probably benign	Het
Vmn2r61	T	G	7: 42,275,474 (GRCm38)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301 (GRCm38)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160 (GRCm38)	L240*	probably null	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CCGGGCTATAAATGAGCCTAGCAAC -3'
(R):5'- TCGTCCAAAGCCCACTTCAGAGAG -3'

Sequencing Primer
(F):5'- CGTGCAAAGCAAAACATTATTTATGC -3'
(R):5'- CCACTTCAGAGAGCGTGGTAG -3'

Posted On

2014-05-13