Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:1110002E22Rik'

530756

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138066210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 387 (N387Y)

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: N387Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: N387Y

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,497 (GRCm38)	S4560P	probably benign	Het
Abhd17a	T	C	10: 80,586,587 (GRCm38)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm38)		probably null	Het
Adcy6	T	C	15: 98,596,205 (GRCm38)	N817S	probably benign	Het
Ak8	T	A	2: 28,709,945 (GRCm38)	L63*	probably null	Het
Arhgef28	G	A	13: 98,075,247 (GRCm38)	S76L	probably damaging	Het
Asap1	A	G	15: 64,094,412 (GRCm38)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,877,553 (GRCm38)	M209I	probably benign	Het
Casr	T	C	16: 36,515,588 (GRCm38)	I120V	probably benign	Het
Chd7	T	C	4: 8,833,866 (GRCm38)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,761,576 (GRCm38)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,491,194 (GRCm38)	H362L	probably damaging	Het
Dym	G	A	18: 75,286,647 (GRCm38)	V630M	probably damaging	Het
Dyrk1b	C	A	7: 28,186,709 (GRCm38)	P619Q	probably damaging	Het
Dyx1c1	A	G	9: 72,961,975 (GRCm38)	T156A	probably benign	Het
Eml5	T	C	12: 98,865,400 (GRCm38)	D433G	probably damaging	Het
Fam58b	T	C	11: 78,751,124 (GRCm38)	Y180C	probably damaging	Het
Frem2	A	T	3: 53,653,665 (GRCm38)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,418,334 (GRCm38)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,081,590 (GRCm38)	I304F	probably damaging	Het
Gpc5	A	G	14: 115,369,951 (GRCm38)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,501,188 (GRCm38)		probably null	Het
Hmcn1	T	A	1: 150,734,518 (GRCm38)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,827,750 (GRCm38)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,203,914 (GRCm38)		probably null	Het
Il17f	A	G	1: 20,779,489 (GRCm38)	M17T	probably benign	Het
Itga11	G	A	9: 62,768,584 (GRCm38)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,423,161 (GRCm38)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,194,429 (GRCm38)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,228,043 (GRCm38)	V131A	possibly damaging	Het
Olfr550	G	A	7: 102,578,499 (GRCm38)	M1I	probably null	Het
Olfr889	T	G	9: 38,115,975 (GRCm38)	Y60D	probably damaging	Het
Olfr970	T	A	9: 39,819,897 (GRCm38)	V86E	probably benign	Het
Olfr972	T	C	9: 39,873,680 (GRCm38)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,275,013 (GRCm38)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,534 (GRCm38)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,602,671 (GRCm38)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,506,694 (GRCm38)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 99,094,521 (GRCm38)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,548,141 (GRCm38)	I117F	probably benign	Het
Psapl1	C	A	5: 36,204,959 (GRCm38)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909 (GRCm38)		probably benign	Homo
Rtkn2	T	A	10: 68,041,453 (GRCm38)	F448I	probably benign	Het
Scn10a	T	C	9: 119,671,551 (GRCm38)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,151,500 (GRCm38)	L193P	probably damaging	Het
Sox12	T	C	2: 152,396,758 (GRCm38)	Y314C	probably damaging	Het
Sptbn1	T	C	11: 30,117,859 (GRCm38)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,208,949 (GRCm38)	V1570A	probably benign	Het
Synrg	T	C	11: 83,981,425 (GRCm38)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,845,712 (GRCm38)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,728,754 (GRCm38)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,103,283 (GRCm38)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,384,706 (GRCm38)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,789,881 (GRCm38)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,694,792 (GRCm38)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,619,887 (GRCm38)		probably null	Het
Vnn3	C	T	10: 23,869,625 (GRCm38)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm38)	Y911C	probably damaging	Het
Wdr60	A	T	12: 116,213,456 (GRCm38)	V842E	possibly damaging	Het
Zfp772	C	T	7: 7,203,717 (GRCm38)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,959,819 (GRCm38)	H957L	probably benign	Het
Zscan20	G	T	4: 128,585,875 (GRCm38)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,290,563 (GRCm38)	F346I	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
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
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'- GTCGATGATGGAATAGCGTCC -3'
(R):5'- ATTGACAGGAGGATCTGGCTTG -3'

Sequencing Primer
(F):5'- ATCCAGCTGACTGAGGTA -3'
(R):5'- AGGATCTGGCTTGCTGCACTC -3'

Posted On

2018-08-01