Incidental Mutation 'R4619:1110002E22Rik'
ID 345158
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 041885-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R4619 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137775520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1570 (V1570I)
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: V1570I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1570I

DomainStartEndE-ValueType
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 0.0832 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx4 A G 2: 93,473,106 (GRCm39) R35G probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
Atp8b3 G A 10: 80,361,858 (GRCm39) T731I possibly damaging Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Cdh15 G A 8: 123,587,612 (GRCm39) D179N probably damaging Het
Cntnap5c G T 17: 58,717,263 (GRCm39) V1282L probably benign Het
Crocc2 G A 1: 93,141,372 (GRCm39) R1175H probably benign Het
Dbh A G 2: 27,064,836 (GRCm39) D349G probably damaging Het
Dync1h1 A G 12: 110,605,278 (GRCm39) I2372V probably benign Het
Fer1l4 A T 2: 155,889,007 (GRCm39) W389R probably damaging Het
Fndc1 T C 17: 7,984,036 (GRCm39) T1297A unknown Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
Gm5591 G A 7: 38,220,072 (GRCm39) S267L probably benign Het
Gzmk A G 13: 113,309,657 (GRCm39) V92A probably damaging Het
Hspg2 C T 4: 137,273,884 (GRCm39) R2680W probably damaging Het
Insyn2a A G 7: 134,520,270 (GRCm39) Y87H probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kcnk7 A C 19: 5,756,463 (GRCm39) I230L probably benign Het
Kif3b C T 2: 153,158,594 (GRCm39) R132* probably null Het
Klra5 T C 6: 129,885,776 (GRCm39) S128G probably benign Het
Krba1 C T 6: 48,383,282 (GRCm39) R4* probably null Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Lss A G 10: 76,372,089 (GRCm39) D148G probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mipep T C 14: 61,140,865 (GRCm39) C566R probably damaging Het
Myocd T A 11: 65,069,254 (GRCm39) probably benign Het
Ndufa9 C T 6: 126,804,498 (GRCm39) probably null Het
Nolc1 G A 19: 46,071,959 (GRCm39) G583D probably damaging Het
Nucb2 T C 7: 116,127,059 (GRCm39) probably null Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or5p63 A T 7: 107,811,301 (GRCm39) I145N possibly damaging Het
Pank4 C A 4: 155,061,076 (GRCm39) D508E probably benign Het
Phb1 T A 11: 95,562,416 (GRCm39) probably benign Het
Pign T A 1: 105,449,715 (GRCm39) probably benign Het
Plec T C 15: 76,076,382 (GRCm39) K349E probably benign Het
Ppp1r3c A T 19: 36,711,743 (GRCm39) V9E possibly damaging Het
Rap1gap T A 4: 137,443,422 (GRCm39) V130D probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Serpina3f T C 12: 104,183,549 (GRCm39) I137T possibly damaging Het
Slc46a3 T A 5: 147,823,540 (GRCm39) K101* probably null Het
Snph G A 2: 151,436,434 (GRCm39) Q96* probably null Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Ssc5d A T 7: 4,932,524 (GRCm39) H396L probably damaging Het
Sulf1 A C 1: 12,856,876 (GRCm39) R42S probably damaging Het
Taf1a T A 1: 183,181,752 (GRCm39) probably benign Het
Thoc5 T A 11: 4,876,218 (GRCm39) M609K probably damaging Het
Tiam2 A T 17: 3,568,617 (GRCm39) I1588F probably damaging Het
Tmcc1 C T 6: 116,020,247 (GRCm39) V402I probably damaging Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trbv31 T C 6: 41,534,901 (GRCm39) I21V probably benign Het
Vmn1r74 A T 7: 11,581,398 (GRCm39) T233S possibly damaging Het
Vmn1r74 G C 7: 11,581,403 (GRCm39) Q234H probably damaging Het
Vsx1 A T 2: 150,530,529 (GRCm39) S118T probably benign Het
Wnt9b G A 11: 103,621,949 (GRCm39) T236I probably benign Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zc3hc1 G A 6: 30,387,523 (GRCm39) T52I probably benign Het
Zfp558 T A 9: 18,367,577 (GRCm39) N404Y possibly damaging Het
Zfp735 A T 11: 73,602,031 (GRCm39) D325V probably damaging Het
Zhx3 A T 2: 160,623,879 (GRCm39) M96K probably damaging Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8273:1110002E22Rik UTSW 3 137,772,211 (GRCm39) missense probably benign
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'- CCAAAGGATCTCAGGTCAGTG -3'
(R):5'- TGAGAAGTCATGGGCACATC -3'

Sequencing Primer
(F):5'- ATCTCAGGTCAGTGGAACCAGC -3'
(R):5'- ATGGGCACATCCACGTATTG -3'
Posted On 2015-09-25