Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:1110002E22Rik'

637834

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

067696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137770813-137787267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137772211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 467 (V467I)

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: V467I

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

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V467I

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	G	A	8: 23,575,668 (GRCm39)	G167E	probably damaging	Het
Ano2	G	A	6: 125,959,683 (GRCm39)	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,112,990 (GRCm39)	C954R	unknown	Het
Atp13a4	T	G	16: 29,290,720 (GRCm39)	Y243S		Het
Bend3	T	G	10: 43,386,899 (GRCm39)	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,812,599 (GRCm39)	R52C	probably damaging	Het
Ccl22	T	C	8: 95,473,619 (GRCm39)	W55R	probably damaging	Het
Ccnk	A	G	12: 108,152,758 (GRCm39)	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,499,271 (GRCm39)	P1174S	probably damaging	Het
Copa	T	C	1: 171,946,546 (GRCm39)		probably null	Het
Copg2	C	T	6: 30,793,061 (GRCm39)	V425M	probably benign	Het
Dnah6	T	A	6: 73,172,664 (GRCm39)	T265S	probably benign	Het
Dnah6	T	C	6: 73,053,582 (GRCm39)	E2936G	probably benign	Het
Dync2i2	A	T	2: 29,921,903 (GRCm39)	V486D	probably damaging	Het
Erc2	A	G	14: 27,499,096 (GRCm39)	D324G	probably benign	Het
F11	T	A	8: 45,701,644 (GRCm39)	H363L	possibly damaging	Het
F7	T	C	8: 13,083,981 (GRCm39)	V222A	probably benign	Het
Fars2	A	G	13: 36,594,093 (GRCm39)	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flot2	A	G	11: 77,950,021 (GRCm39)	I417V	probably benign	Het
Fmnl1	T	C	11: 103,077,525 (GRCm39)	F295S	probably damaging	Het
Gpr89	G	A	3: 96,812,505 (GRCm39)	T12I	probably benign	Het
Gprc6a	T	C	10: 51,507,370 (GRCm39)	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,343,213 (GRCm39)	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,454,474 (GRCm39)	R152H	probably benign	Het
Haus3	A	G	5: 34,311,435 (GRCm39)	F532L	probably benign	Het
Inpp4a	A	G	1: 37,407,520 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,953,080 (GRCm39)	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,476,801 (GRCm39)	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,168,891 (GRCm39)	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,043,815 (GRCm39)	D801G	probably damaging	Het
Muc6	T	A	7: 141,226,795 (GRCm39)	T1411S	unknown	Het
Nalcn	C	A	14: 123,554,436 (GRCm39)	G954C	probably damaging	Het
Nlrp9b	G	A	7: 19,757,986 (GRCm39)	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,342,434 (GRCm39)	L119P	probably damaging	Het
Or2w6	A	G	13: 21,843,377 (GRCm39)	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Pdzph1	A	T	17: 59,280,009 (GRCm39)	Y758N	probably benign	Het
Pea15a	T	A	1: 172,026,812 (GRCm39)	H65L	probably damaging	Het
Pigm	T	A	1: 172,205,524 (GRCm39)	I420N	probably benign	Het
Pign	A	G	1: 105,516,803 (GRCm39)	F580L	probably benign	Het
Pkhd1	T	C	1: 20,607,644 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,649,105 (GRCm39)	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,589,547 (GRCm39)	D412N	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rtl1	A	G	12: 109,559,149 (GRCm39)	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,408,383 (GRCm39)	F688Y	probably benign	Het
Sgo2b	C	A	8: 64,377,735 (GRCm39)	R1166L	unknown	Het
Slc12a2	G	T	18: 58,047,338 (GRCm39)		probably benign	Het
Smpdl3b	T	A	4: 132,465,712 (GRCm39)	H236L	probably damaging	Het
Spata9	C	A	13: 76,125,666 (GRCm39)		probably benign	Het
St6galnac4	A	G	2: 32,477,667 (GRCm39)		probably benign	Het
Stc2	T	A	11: 31,319,777 (GRCm39)	N29I	possibly damaging	Het
Sun5	A	T	2: 153,707,243 (GRCm39)	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,655,018 (GRCm39)	I278V	probably damaging	Het
Trrap	A	G	5: 144,727,975 (GRCm39)	I565M	probably damaging	Het
Ttl	A	G	2: 128,910,853 (GRCm39)	K79R	probably benign	Het
Ttn	A	T	2: 76,737,721 (GRCm39)	Y4319N	unknown	Het
Usp28	T	C	9: 48,938,182 (GRCm39)	L584P	probably damaging	Het
Wdr27	A	G	17: 15,049,838 (GRCm39)	S777P	probably benign	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Wnt5a	T	C	14: 28,244,562 (GRCm39)	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,723,301 (GRCm39)	C1768Y	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	137,772,566 (GRCm39)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	137,773,065 (GRCm39)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	137,776,067 (GRCm39)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	137,774,005 (GRCm39)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	137,774,704 (GRCm39)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	137,773,986 (GRCm39)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	137,775,838 (GRCm39)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	137,772,967 (GRCm39)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	137,772,632 (GRCm39)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	137,773,661 (GRCm39)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	137,773,313 (GRCm39)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	137,771,162 (GRCm39)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	137,775,181 (GRCm39)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	137,772,479 (GRCm39)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	137,773,031 (GRCm39)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	137,773,028 (GRCm39)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	137,770,934 (GRCm39)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	137,773,541 (GRCm39)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	137,771,443 (GRCm39)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	137,774,168 (GRCm39)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	137,772,400 (GRCm39)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	137,773,834 (GRCm39)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	137,776,027 (GRCm39)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	137,775,520 (GRCm39)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	137,774,246 (GRCm39)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	137,775,751 (GRCm39)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	137,771,503 (GRCm39)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	137,771,131 (GRCm39)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	137,771,437 (GRCm39)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	137,774,780 (GRCm39)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	137,775,433 (GRCm39)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	137,772,272 (GRCm39)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	137,771,611 (GRCm39)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	137,773,708 (GRCm39)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	137,772,260 (GRCm39)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	137,772,149 (GRCm39)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	137,771,170 (GRCm39)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	137,774,419 (GRCm39)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	137,776,109 (GRCm39)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	137,775,922 (GRCm39)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	137,774,701 (GRCm39)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	137,773,741 (GRCm39)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	137,772,383 (GRCm39)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	137,772,736 (GRCm39)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	137,774,561 (GRCm39)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	137,773,288 (GRCm39)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	137,772,386 (GRCm39)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	137,774,915 (GRCm39)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	137,771,971 (GRCm39)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	137,770,930 (GRCm39)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	137,773,811 (GRCm39)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	137,771,272 (GRCm39)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	137,775,820 (GRCm39)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	137,775,712 (GRCm39)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	137,771,237 (GRCm39)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	137,771,456 (GRCm39)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	137,772,629 (GRCm39)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	137,774,044 (GRCm39)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	137,771,887 (GRCm39)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	137,774,516 (GRCm39)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	137,775,362 (GRCm39)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	137,774,156 (GRCm39)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	137,773,543 (GRCm39)	missense	probably damaging	0.99
R8434:1110002E22Rik	UTSW	3	137,773,021 (GRCm39)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	137,774,586 (GRCm39)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	137,771,798 (GRCm39)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	137,775,874 (GRCm39)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	137,772,520 (GRCm39)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	137,770,909 (GRCm39)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	137,775,677 (GRCm39)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	137,772,389 (GRCm39)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	137,772,464 (GRCm39)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	137,771,839 (GRCm39)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	137,771,183 (GRCm39)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	137,772,048 (GRCm39)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	137,772,766 (GRCm39)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	137,774,267 (GRCm39)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	137,771,126 (GRCm39)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	137,770,894 (GRCm39)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	137,774,857 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTACGCTTCCTTTGGTGG -3'
(R):5'- TTGCTTTGCACGCACGTTG -3'

Sequencing Primer
(F):5'- TGATGAGACCCCAGGAGACATC -3'
(R):5'- GCTAGGCTCATTTATAGCCCGG -3'

Posted On

2020-07-28