Incidental Mutation 'R1472:1110002E22Rik'
ID 164974
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 039525-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R1472 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 138065052-138081506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138067552 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 834 (T834M)
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 possibly damaging
Transcript: ENSMUST00000163080
AA Change: T834M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T834M

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 T C 2: 32,630,301 (GRCm38) L32P probably damaging Het
Ankrd24 A G 10: 81,634,920 (GRCm38) D61G probably damaging Het
Atp13a2 T C 4: 140,993,802 (GRCm38) S99P probably damaging Het
Atp8a2 T C 14: 59,860,270 (GRCm38) K770E probably benign Het
Bmp10 A G 6: 87,433,797 (GRCm38) I191V probably benign Het
C2cd6 A T 1: 59,067,785 (GRCm38) S294T possibly damaging Het
C4b T A 17: 34,743,769 (GRCm38) K20* probably null Het
Caps2 C T 10: 112,179,472 (GRCm38) T139I probably benign Het
Cdc25a T C 9: 109,876,089 (GRCm38) S34P probably benign Het
Cenpv T C 11: 62,536,295 (GRCm38) I146V probably benign Het
Cep57 A T 9: 13,821,554 (GRCm38) F32I probably benign Het
Cep85 A G 4: 134,167,400 (GRCm38) W32R probably damaging Het
Cntrl T C 2: 35,169,317 (GRCm38) probably null Het
Cpd A G 11: 76,784,398 (GRCm38) V1299A probably damaging Het
Cpne6 T C 14: 55,514,635 (GRCm38) V283A probably benign Het
Crot A G 5: 8,966,941 (GRCm38) C584R probably damaging Het
Ctsc A C 7: 88,281,462 (GRCm38) H83P possibly damaging Het
Dido1 T C 2: 180,660,720 (GRCm38) N1797S probably benign Het
Dlgap4 C T 2: 156,760,901 (GRCm38) Q148* probably null Het
Dnah3 T C 7: 120,070,958 (GRCm38) D688G probably benign Het
Dnmt1 T C 9: 20,932,176 (GRCm38) E138G probably benign Het
Edc4 T A 8: 105,892,828 (GRCm38) M1396K probably damaging Het
Haao T A 17: 83,838,838 (GRCm38) Q69L probably benign Het
Hsd3b6 A T 3: 98,807,939 (GRCm38) probably null Het
Itpr3 T A 17: 27,114,225 (GRCm38) I1937N probably benign Het
Kcnk15 C A 2: 163,858,207 (GRCm38) T103K probably damaging Het
Kifc3 A G 8: 95,137,913 (GRCm38) probably null Het
Lama3 T A 18: 12,482,045 (GRCm38) F1342Y probably benign Het
Lilra6 A T 7: 3,912,719 (GRCm38) M98K probably damaging Het
Map3k21 T C 8: 125,941,678 (GRCm38) S668P probably benign Het
Mcpt8 T C 14: 56,082,334 (GRCm38) T220A probably benign Het
Mettl13 C T 1: 162,537,167 (GRCm38) V548I possibly damaging Het
Mfsd4b4 A G 10: 39,891,864 (GRCm38) M411T probably benign Het
Mrfap1 A G 5: 36,796,473 (GRCm38) S41P possibly damaging Het
Mroh2b A G 15: 4,948,655 (GRCm38) I1302V probably benign Het
Mrpl45 C T 11: 97,323,855 (GRCm38) R123* probably null Het
Mstn T A 1: 53,061,998 (GRCm38) I78K probably damaging Het
Mtdh T C 15: 34,114,045 (GRCm38) S168P possibly damaging Het
Muc15 G T 2: 110,731,560 (GRCm38) V114F probably damaging Het
Muc6 T C 7: 141,651,879 (GRCm38) E112G probably benign Het
Myocd G T 11: 65,187,504 (GRCm38) H360Q probably benign Het
Naip2 C T 13: 100,161,860 (GRCm38) G556D probably benign Het
Nav3 T C 10: 109,727,941 (GRCm38) E1627G probably damaging Het
Nlrp14 T C 7: 107,182,703 (GRCm38) L369P probably benign Het
Nlrp6 A G 7: 140,923,495 (GRCm38) T505A probably damaging Het
Npbwr1 T C 1: 5,916,681 (GRCm38) S205G probably damaging Het
Nsmaf G A 4: 6,423,448 (GRCm38) R307* probably null Het
Olfr1505 T C 19: 13,919,844 (GRCm38) S275P probably damaging Het
Olfr187 A T 16: 59,036,557 (GRCm38) L60Q probably damaging Het
Parp9 T G 16: 35,953,680 (GRCm38) S341A possibly damaging Het
Pdss2 A G 10: 43,413,537 (GRCm38) N346S probably benign Het
Pikfyve T A 1: 65,224,201 (GRCm38) F503Y probably damaging Het
Polr1e G T 4: 45,028,026 (GRCm38) A290S probably damaging Het
Ppp1r21 A T 17: 88,558,605 (GRCm38) H305L probably damaging Het
Prss47 A G 13: 65,049,289 (GRCm38) L117P probably damaging Het
Psmb2 A G 4: 126,687,032 (GRCm38) Y73C probably damaging Het
Rcn2 C T 9: 56,056,253 (GRCm38) P222L probably benign Het
Rnf144b T C 13: 47,242,885 (GRCm38) Y233H probably damaging Het
Rnf17 T C 14: 56,427,979 (GRCm38) L196P probably damaging Het
Sik2 A G 9: 51,008,811 (GRCm38) I22T probably damaging Het
Sis A G 3: 72,889,027 (GRCm38) V1807A probably benign Het
Slc1a2 T A 2: 102,737,909 (GRCm38) I88N probably damaging Het
Slc22a22 A G 15: 57,247,520 (GRCm38) F437S probably benign Het
Slc39a13 A T 2: 91,068,705 (GRCm38) C20* probably null Het
Sos2 C T 12: 69,585,316 (GRCm38) probably null Het
Sst A G 16: 23,890,698 (GRCm38) V16A probably benign Het
Stab1 C T 14: 31,141,586 (GRCm38) G2073D probably benign Het
Stxbp1 A T 2: 32,794,636 (GRCm38) S594T probably benign Het
Sugct A T 13: 17,452,546 (GRCm38) C241S probably benign Het
Svil T A 18: 5,048,950 (GRCm38) C76S probably benign Het
Tcaf1 A G 6: 42,686,448 (GRCm38) V166A possibly damaging Het
Tmem131 A T 1: 36,816,241 (GRCm38) N801K possibly damaging Het
Tox3 T C 8: 90,254,345 (GRCm38) N277S probably damaging Het
Tril G T 6: 53,818,027 (GRCm38) R737S probably damaging Het
Trpm2 C A 10: 77,966,007 (GRCm38) V75L probably damaging Het
Tshz1 A C 18: 84,013,805 (GRCm38) L826R possibly damaging Het
Ttn C T 2: 76,766,852 (GRCm38) V19906I probably damaging Het
Wnt5a C T 14: 28,518,504 (GRCm38) R184* probably null Het
Wnt5b G A 6: 119,433,481 (GRCm38) R333C probably damaging Het
Zbtb6 T C 2: 37,429,344 (GRCm38) T191A probably benign Het
Zc3h4 A G 7: 16,434,770 (GRCm38) N935D unknown Het
Zc3h7a C T 16: 11,161,026 (GRCm38) R95H probably damaging Het
Zfp110 T C 7: 12,848,541 (GRCm38) V372A possibly damaging Het
Zmym2 C T 14: 56,911,183 (GRCm38) S318L probably benign Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACATCTGAGAGTAGCAAGCCTGCC -3'
(R):5'- ACTCCGAAGGAAGATGCCCTTCAC -3'

Sequencing Primer
(F):5'- CTGCCTCCCGTAGTGATG -3'
(R):5'- CCATCGGAGACATTTTGGC -3'
Posted On 2014-03-28