Incidental Mutation 'R7663:1110002E22Rik'
ID 591691
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 045738-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R7663 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137771887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 359 (T359A)
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: T359A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T359A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A C 12: 84,652,903 (GRCm39) V433G probably damaging Het
Acot5 C A 12: 84,116,355 (GRCm39) R39S probably damaging Het
Actl9 T C 17: 33,652,443 (GRCm39) S168P probably damaging Het
Adam15 A G 3: 89,253,113 (GRCm39) L237P probably damaging Het
Ahctf1 T C 1: 179,617,879 (GRCm39) Q289R possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asah1 C T 8: 41,794,664 (GRCm39) R385Q probably damaging Het
Bicc1 T C 10: 70,782,420 (GRCm39) T607A probably benign Het
Ccdc88a T C 11: 29,448,614 (GRCm39) probably null Het
Cdhr4 A T 9: 107,875,971 (GRCm39) R750* probably null Het
Cep290 T A 10: 100,390,398 (GRCm39) probably null Het
Clca3a1 T A 3: 144,442,797 (GRCm39) D749V probably benign Het
Clcn1 C T 6: 42,286,997 (GRCm39) P685S possibly damaging Het
Clk1 A G 1: 58,460,319 (GRCm39) S104P probably damaging Het
Commd10 T C 18: 47,219,323 (GRCm39) V172A probably benign Het
Cyp2c69 A T 19: 39,865,953 (GRCm39) C213* probably null Het
Dnah14 A T 1: 181,579,720 (GRCm39) probably null Het
Dock2 C T 11: 34,611,854 (GRCm39) G170R probably damaging Het
Fam186a T G 15: 99,842,950 (GRCm39) H1098P probably benign Het
Flt1 T C 5: 147,591,930 (GRCm39) T511A probably benign Het
Fmo1 A C 1: 162,663,866 (GRCm39) I221S possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Ginm1 A T 10: 7,651,126 (GRCm39) S93R possibly damaging Het
Gm3629 A C 14: 17,875,685 (GRCm39) probably null Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gys2 C T 6: 142,405,211 (GRCm39) R192H probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hectd4 C A 5: 121,462,094 (GRCm39) A987E probably benign Het
Herc2 G A 7: 55,786,433 (GRCm39) V1593I probably benign Het
Ighv14-3 T C 12: 114,023,554 (GRCm39) T88A probably benign Het
Jag2 T C 12: 112,877,286 (GRCm39) D695G probably damaging Het
Kazn A T 4: 141,832,209 (GRCm39) D663E Het
Krt79 T C 15: 101,840,278 (GRCm39) D306G probably damaging Het
Lama1 T A 17: 68,087,875 (GRCm39) C1498S Het
Ldb1 T C 19: 46,023,963 (GRCm39) Y141C probably damaging Het
Lmnb2 T A 10: 80,740,573 (GRCm39) E336V probably damaging Het
Lrp1b T A 2: 42,543,047 (GRCm39) probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 T A 14: 103,429,045 (GRCm39) Y2377F probably damaging Het
Neb T A 2: 52,120,059 (GRCm39) Y721F Het
Ntf3 A G 6: 126,078,778 (GRCm39) S243P probably damaging Het
Or4c103 G C 2: 88,513,696 (GRCm39) P127A probably damaging Het
Or52s1 T C 7: 102,861,652 (GRCm39) M195T possibly damaging Het
Or5b121 G T 19: 13,507,809 (GRCm39) M301I probably damaging Het
Pdk1 G A 2: 71,705,742 (GRCm39) probably null Het
Pdzd2 A G 15: 12,373,289 (GRCm39) V2282A probably damaging Het
Piwil1 T C 5: 128,824,497 (GRCm39) F517L probably benign Het
Plch2 T A 4: 155,075,619 (GRCm39) T738S probably damaging Het
Plekhm3 G A 1: 64,922,367 (GRCm39) R603W probably damaging Het
Pltp A T 2: 164,698,926 (GRCm39) probably null Het
Prdm4 A G 10: 85,735,145 (GRCm39) S666P probably damaging Het
Psmb3 G T 11: 97,603,318 (GRCm39) R177L probably damaging Het
Ralgapa2 A G 2: 146,260,335 (GRCm39) V764A probably benign Het
Rel T C 11: 23,692,713 (GRCm39) D440G probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Rims2 T A 15: 39,370,422 (GRCm39) V952E probably damaging Het
Samd4b G T 7: 28,122,925 (GRCm39) C44* probably null Het
Slamf8 C A 1: 172,415,605 (GRCm39) V78F possibly damaging Het
Slc35a1 A T 4: 34,675,493 (GRCm39) N111K possibly damaging Het
Slc7a5 A T 8: 122,614,274 (GRCm39) Y264* probably null Het
Srsf2 T C 11: 116,743,120 (GRCm39) S134G unknown Het
Stag1 T A 9: 100,620,191 (GRCm39) M98K probably damaging Het
Trib1 T C 15: 59,523,562 (GRCm39) S199P probably damaging Het
Txnip T C 3: 96,467,153 (GRCm39) S276P possibly damaging Het
Vmn1r194 C T 13: 22,428,911 (GRCm39) T176I not run Het
Vmn1r222 A G 13: 23,416,601 (GRCm39) L204P possibly damaging Het
Vmn2r63 T A 7: 42,576,466 (GRCm39) H449L probably benign Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vmn2r87 T A 10: 130,308,054 (GRCm39) H728L probably damaging Het
Zfp69 G A 4: 120,792,323 (GRCm39) A151V probably benign Het
Zfp738 A G 13: 67,831,520 (GRCm39) probably null Het
Zfp974 T C 7: 27,611,110 (GRCm39) E205G possibly 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
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
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'- GATCCCACCAAGTTACTGGG -3'
(R):5'- CGTAACAGCTATTGTCATCATCTTC -3'

Sequencing Primer
(F):5'- TTAGGCTTTGAGAGTGATCCCGAAAC -3'
(R):5'- CATCATCTTCTTCTGTGGTGATG -3'
Posted On 2019-11-12