Mutagenetix > Incidental Mutation

Incidental Mutation 'R7001:1110002E22Rik'

544528

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

045106-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R7001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138065511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 154 (Q154K)

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 benign
Transcript: ENSMUST00000163080
AA Change: Q154K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: Q154K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh6a1	T	G	12: 84,441,888 (GRCm38)	T75P	probably damaging	Het
Ank2	T	A	3: 127,077,581 (GRCm38)	H98L	probably damaging	Het
Ankib1	A	G	5: 3,694,781 (GRCm38)	F800S	probably benign	Het
Arhgap10	A	T	8: 77,365,088 (GRCm38)	M434K	possibly damaging	Het
Cap1	A	T	4: 122,864,615 (GRCm38)	F257L	probably benign	Het
Cdt1	T	A	8: 122,572,510 (GRCm38)	H510Q	probably damaging	Het
Clca3b	A	C	3: 144,827,972 (GRCm38)	D547E	possibly damaging	Het
Col24a1	T	C	3: 145,298,866 (GRCm38)	V35A	probably benign	Het
Cyp2j13	A	T	4: 96,056,875 (GRCm38)	N305K	probably damaging	Het
D3Ertd751e	T	A	3: 41,758,409 (GRCm38)		probably null	Het
D6Ertd527e	G	A	6: 87,111,212 (GRCm38)	G119D	unknown	Het
Ddc	T	C	11: 11,824,870 (GRCm38)		probably null	Het
Dnah12	A	T	14: 26,879,724 (GRCm38)	Y3713F	probably damaging	Het
Dock8	T	A	19: 25,099,677 (GRCm38)	S504T	probably benign	Het
Farp2	T	C	1: 93,620,184 (GRCm38)	F941L	possibly damaging	Het
Farp2	A	G	1: 93,620,230 (GRCm38)	N956S	possibly damaging	Het
Fbxo3	T	A	2: 104,051,224 (GRCm38)	H300Q	probably damaging	Het
Fcgrt	T	C	7: 45,102,042 (GRCm38)	T131A	probably benign	Het
Fndc7	G	A	3: 108,876,648 (GRCm38)	A215V	probably benign	Het
Frem1	T	C	4: 82,986,561 (GRCm38)	E890G	probably benign	Het
Fsip2	C	A	2: 82,986,925 (GRCm38)	P4334H	probably damaging	Het
Gcdh	C	A	8: 84,890,911 (GRCm38)	V227L	probably benign	Het
Gm8267	A	C	14: 44,722,928 (GRCm38)	M120R	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Lasp1	T	G	11: 97,806,833 (GRCm38)	H26Q	probably damaging	Het
Lrrcc1	T	A	3: 14,540,095 (GRCm38)	I297N	probably damaging	Het
Map1b	A	T	13: 99,430,593 (GRCm38)	N1873K	unknown	Het
Map2	A	G	1: 66,415,487 (GRCm38)	I1179V	probably benign	Het
Mtss1	A	C	15: 58,948,334 (GRCm38)		probably benign	Het
Mtus2	A	G	5: 148,277,628 (GRCm38)	E28G	probably damaging	Het
Muc6	G	A	7: 141,637,407 (GRCm38)	T2386I	probably damaging	Het
Myo3a	G	T	2: 22,332,377 (GRCm38)	V362L	probably benign	Het
N6amt1	G	A	16: 87,354,292 (GRCm38)	V14M	probably benign	Het
Nav1	A	T	1: 135,454,611 (GRCm38)		probably null	Het
Nol6	A	G	4: 41,121,279 (GRCm38)	S326P	probably benign	Het
Olfr1084	A	T	2: 86,639,151 (GRCm38)	S186T	probably benign	Het
Olfr599	A	G	7: 103,338,221 (GRCm38)	S56G	possibly damaging	Het
Olr1	T	A	6: 129,488,111 (GRCm38)	E100V	probably damaging	Het
Otop3	T	C	11: 115,339,653 (GRCm38)	Y119H	probably damaging	Het
Prpmp5	C	T	6: 132,312,564 (GRCm38)	G99E	unknown	Het
Ryr2	A	T	13: 11,794,605 (GRCm38)	M778K	probably damaging	Het
Serpina3n	G	T	12: 104,408,925 (GRCm38)	M85I	probably benign	Het
Serpine2	A	G	1: 79,795,031 (GRCm38)	F390L	probably damaging	Het
Sf3b1	A	G	1: 55,014,481 (GRCm38)		probably null	Het
Sf3b1	A	G	1: 55,001,046 (GRCm38)	V591A	probably damaging	Het
Slc26a5	C	T	5: 21,811,336 (GRCm38)	V646I	probably damaging	Het
Slitrk3	T	A	3: 73,050,609 (GRCm38)	K277*	probably null	Het
Sv2c	A	G	13: 95,981,953 (GRCm38)	S463P	probably benign	Het
Tbc1d4	G	A	14: 101,458,749 (GRCm38)	T858M	probably benign	Het
Tbx18	T	A	9: 87,727,404 (GRCm38)	I193F	probably damaging	Het
Tm6sf2	A	C	8: 70,078,332 (GRCm38)	D245A	probably damaging	Het
Unc119	T	C	11: 78,348,554 (GRCm38)	Y234H	probably damaging	Het
Wrn	A	T	8: 33,352,129 (GRCm38)	S46T	probably benign	Het
Zfp729a	A	T	13: 67,620,349 (GRCm38)	I587K	probably benign	Het
Zfp872	C	A	9: 22,200,616 (GRCm38)	H464N	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
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
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'- AGTGGTACCTACAGCCTTGG -3'
(R):5'- GGCCATTGTCTTCTGCACTG -3'

Sequencing Primer
(F):5'- CACGTGGGAACCTGTTT -3'
(R):5'- AGAAGTCGTTCTCACAAGCCTGG -3'

Posted On

2019-05-13