Incidental Mutation 'R4829:1110002E22Rik'
ID 372652
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R4829 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137774780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1323 (V1323A)
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: V1323A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1323A

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 0.1024 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,773,214 (GRCm39) L814P probably damaging Het
Acat1 C A 9: 53,502,756 (GRCm39) G191V probably damaging Het
Acsbg3 A G 17: 57,190,500 (GRCm39) probably null Het
Adamts20 A T 15: 94,224,277 (GRCm39) D1184E probably benign Het
Adss1 T C 12: 112,601,147 (GRCm39) L283P probably damaging Het
Arid4a A G 12: 71,070,272 (GRCm39) probably null Het
Arid4b T A 13: 14,359,023 (GRCm39) D599E probably benign Het
AW146154 T C 7: 41,130,057 (GRCm39) K353R possibly damaging Het
Axdnd1 G T 1: 156,204,216 (GRCm39) R547S possibly damaging Het
Bcat1 A T 6: 144,961,201 (GRCm39) F134Y probably damaging Het
Camk2d C A 3: 126,573,646 (GRCm39) probably benign Het
Catsperg2 T G 7: 29,400,550 (GRCm39) K268T probably damaging Het
Ccar1 A C 10: 62,581,114 (GRCm39) F1103L unknown Het
Ccdc141 T A 2: 76,905,260 (GRCm39) E395D probably damaging Het
Cdc37l1 A G 19: 28,967,983 (GRCm39) T16A probably benign Het
Cdca2 T A 14: 67,931,202 (GRCm39) probably null Het
Cfap96 T C 8: 46,420,952 (GRCm39) I159V probably damaging Het
Cntn5 T G 9: 9,976,288 (GRCm39) K219Q probably damaging Het
Col23a1 C A 11: 51,448,413 (GRCm39) A202E unknown Het
Csmd1 G A 8: 16,177,310 (GRCm39) L1318F probably damaging Het
Csnk1g3 C T 18: 54,028,895 (GRCm39) A16V possibly damaging Het
Cspg4b A G 13: 113,504,696 (GRCm39) I1942V probably benign Het
Dab2 A G 15: 6,454,162 (GRCm39) D224G probably damaging Het
Ddr1 A T 17: 35,996,005 (GRCm39) C625S probably damaging Het
Dennd4a T C 9: 64,796,338 (GRCm39) V788A probably damaging Het
Dgcr2 T C 16: 17,660,617 (GRCm39) E402G possibly damaging Het
Dhcr7 T G 7: 143,391,654 (GRCm39) I81S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fat1 C T 8: 45,489,199 (GRCm39) T3467I probably damaging Het
Fblim1 T C 4: 141,312,020 (GRCm39) E235G probably damaging Het
Fbxo38 T A 18: 62,651,662 (GRCm39) M548L probably benign Het
Fstl5 T C 3: 76,229,489 (GRCm39) Y97H probably damaging Het
Glb1l A T 1: 75,176,994 (GRCm39) S481T probably damaging Het
Gp2 A T 7: 119,056,407 (GRCm39) V22E possibly damaging Het
Grin1 A G 2: 25,208,736 (GRCm39) S55P possibly damaging Het
Herc2 A G 7: 55,756,240 (GRCm39) D760G probably benign Het
Hpn A G 7: 30,798,300 (GRCm39) probably benign Het
Hsf2 T C 10: 57,372,266 (GRCm39) V73A probably damaging Het
Ighv1-42 T C 12: 114,900,788 (GRCm39) Y80C probably benign Het
Ighv1-64 T C 12: 115,471,346 (GRCm39) K57R probably benign Het
Klc1 T C 12: 111,762,037 (GRCm39) I569T probably damaging Het
Klra3 T G 6: 130,300,579 (GRCm39) K263N probably benign Het
Lrcol1 C A 5: 110,502,393 (GRCm39) H90N probably benign Het
Mamdc4 T C 2: 25,455,368 (GRCm39) E921G possibly damaging Het
Mark1 G A 1: 184,637,724 (GRCm39) R622W possibly damaging Het
Mdga1 A G 17: 30,065,343 (GRCm39) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtnr1a T C 8: 45,538,652 (GRCm39) probably benign Het
Myo5a T C 9: 75,043,689 (GRCm39) I226T probably damaging Het
Ncoa6 G T 2: 155,257,147 (GRCm39) P799T probably damaging Het
Npc1l1 C T 11: 6,164,010 (GRCm39) probably null Het
Nxph3 T C 11: 95,402,321 (GRCm39) E31G probably benign Het
Obscn T C 11: 58,945,072 (GRCm39) I4649V probably null Het
Or10d4b A T 9: 39,534,734 (GRCm39) H103L probably damaging Het
Or8b12b G T 9: 37,684,243 (GRCm39) C96F probably damaging Het
Or8g35 A T 9: 39,381,663 (GRCm39) Y120N probably damaging Het
Or8h10 G A 2: 86,808,918 (GRCm39) S74L probably damaging Het
P3h3 G A 6: 124,818,601 (GRCm39) probably benign Het
Pcnx2 A T 8: 126,587,797 (GRCm39) probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pla2g4d A G 2: 120,097,224 (GRCm39) S792P probably damaging Het
Plppr4 A T 3: 117,129,240 (GRCm39) L76M possibly damaging Het
Ppp2r3d A T 9: 101,089,709 (GRCm39) S205T possibly damaging Het
Prkdc G A 16: 15,519,939 (GRCm39) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,181 (GRCm39) S196L probably benign Het
Ptpn21 A C 12: 98,655,555 (GRCm39) S471A probably damaging Het
Ptprk C A 10: 28,456,480 (GRCm39) S9* probably null Het
Rassf4 A T 6: 116,622,103 (GRCm39) I163K possibly damaging Het
Rgs22 C A 15: 36,104,034 (GRCm39) R142S probably damaging Het
Rit2 C A 18: 31,345,726 (GRCm39) L73F probably damaging Het
Rrbp1 A C 2: 143,831,607 (GRCm39) S187A probably benign Het
Rspo2 A T 15: 42,956,583 (GRCm39) Y83* probably null Het
Scn5a C T 9: 119,363,773 (GRCm39) V456M probably benign Het
Scn9a T A 2: 66,382,057 (GRCm39) H290L probably benign Het
Smarca4 T C 9: 21,550,623 (GRCm39) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm39) I198K probably damaging Het
Smim14 G A 5: 65,617,946 (GRCm39) probably benign Het
Spg11 A C 2: 121,938,936 (GRCm39) N339K probably benign Het
Spta1 A G 1: 174,065,493 (GRCm39) E2014G probably benign Het
Stk4 T C 2: 163,941,747 (GRCm39) probably null Het
Sypl1 C T 12: 33,017,645 (GRCm39) T121M probably damaging Het
Tas2r120 T A 6: 132,634,331 (GRCm39) F138I probably benign Het
Tcstv4 G A 13: 120,769,926 (GRCm39) C82Y possibly damaging Het
Tet2 A C 3: 133,182,381 (GRCm39) C1194W possibly damaging Het
Tex29 T C 8: 11,905,668 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,197,067 (GRCm39) T91S possibly damaging Het
Tnik A T 3: 28,593,690 (GRCm39) probably benign Het
Tnr A T 1: 159,685,974 (GRCm39) I402F probably benign Het
Unc93b1 A T 19: 3,994,293 (GRCm39) S475C probably damaging Het
Utrn T A 10: 12,539,205 (GRCm39) E1937D probably benign Het
Vmn1r227 A T 17: 20,955,927 (GRCm39) noncoding transcript Het
Vmn2r101 G A 17: 19,832,229 (GRCm39) V742I probably benign Het
Vmn2r81 T C 10: 79,083,635 (GRCm39) L3P possibly damaging Het
Zfp882 T G 8: 72,668,233 (GRCm39) H353Q 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
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
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'- GCTCTACAGCTTCAACAGGAATG -3'
(R):5'- GTGAACACGTTCCGATTGC -3'

Sequencing Primer
(F):5'- TCTACAGCTTCAACAGGAATGAATGG -3'
(R):5'- CGATTGCCGGGGAGTGG -3'
Posted On 2016-03-01