Incidental Mutation 'R1710:BC034090'
ID 190389
Institutional Source Beutler Lab
Gene Symbol BC034090
Ensembl Gene ENSMUSG00000033722
Gene Name cDNA sequence BC034090
Synonyms
MMRRC Submission 039743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1710 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155088217-155120190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155101610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 218 (D218G)
Ref Sequence ENSEMBL: ENSMUSP00000037456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]
AlphaFold A0A087WP46
Predicted Effect possibly damaging
Transcript: ENSMUST00000035914
AA Change: D218G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: D218G

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:DUF4685 44 168 6.6e-57 PFAM
low complexity region 486 500 N/A INTRINSIC
low complexity region 562 568 N/A INTRINSIC
low complexity region 640 652 N/A INTRINSIC
PDZ 830 905 4.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186082
Predicted Effect possibly damaging
Transcript: ENSMUST00000186156
AA Change: D580G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: D580G

DomainStartEndE-ValueType
low complexity region 446 463 N/A INTRINSIC
low complexity region 779 793 N/A INTRINSIC
low complexity region 855 861 N/A INTRINSIC
low complexity region 933 945 N/A INTRINSIC
PDZ 1123 1198 2.2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186551
Predicted Effect probably benign
Transcript: ENSMUST00000187096
SMART Domains Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722

DomainStartEndE-ValueType
low complexity region 84 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190976
Meta Mutation Damage Score 0.1284 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (117/120)
Allele List at MGI
Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,601,134 (GRCm39) S249R possibly damaging Het
Acadvl T A 11: 69,901,181 (GRCm39) I638F probably damaging Het
Acnat2 T A 4: 49,380,587 (GRCm39) T264S probably benign Het
Acrv1 C T 9: 36,605,551 (GRCm39) Q33* probably null Het
Actrt3 T A 3: 30,653,901 (GRCm39) N33I probably damaging Het
Alyref2 T C 1: 171,331,168 (GRCm39) probably benign Het
Ank2 C A 3: 126,726,709 (GRCm39) E3712* probably null Het
Ano7 C A 1: 93,313,346 (GRCm39) H161Q probably benign Het
Arhgap10 C A 8: 78,085,216 (GRCm39) E451* probably null Het
Arhgap29 T A 3: 121,801,729 (GRCm39) Y748N probably damaging Het
Arhgap45 C T 10: 79,853,932 (GRCm39) Q149* probably null Het
Asap2 C T 12: 21,274,393 (GRCm39) H371Y probably damaging Het
Atp6v1b1 T C 6: 83,735,372 (GRCm39) I480T probably benign Het
Brdt A T 5: 107,491,450 (GRCm39) D74V probably damaging Het
C4b A G 17: 34,962,638 (GRCm39) probably benign Het
Card11 T A 5: 140,888,660 (GRCm39) K233* probably null Het
Catip T G 1: 74,401,929 (GRCm39) F35V possibly damaging Het
Ccdc13 C T 9: 121,648,647 (GRCm39) G247R probably damaging Het
Cep97 T A 16: 55,735,385 (GRCm39) D471V probably damaging Het
Col17a1 A T 19: 47,659,370 (GRCm39) L403Q probably damaging Het
Crbn A G 6: 106,767,906 (GRCm39) S194P possibly damaging Het
Degs1l A G 1: 180,878,884 (GRCm39) M1V probably null Het
Dennd10 A G 19: 60,806,021 (GRCm39) Y102C probably damaging Het
Dhx58 T A 11: 100,594,400 (GRCm39) H97L probably benign Het
Dnah8 T C 17: 31,073,914 (GRCm39) I4528T probably damaging Het
Dpyd A G 3: 118,404,092 (GRCm39) probably null Het
Entpd1 A T 19: 40,714,680 (GRCm39) Q263L probably benign Het
Entrep1 A T 19: 23,957,059 (GRCm39) I317N probably damaging Het
Esyt3 T C 9: 99,218,244 (GRCm39) I130M probably benign Het
Etv1 T C 12: 38,902,261 (GRCm39) F264S probably benign Het
Fat1 T C 8: 45,463,519 (GRCm39) S1354P probably benign Het
Fat4 C A 3: 39,005,304 (GRCm39) T1901N probably damaging Het
Fbxw13 C T 9: 109,010,586 (GRCm39) V351I probably damaging Het
Fmo3 A G 1: 162,795,356 (GRCm39) F160L possibly damaging Het
Fyb2 T A 4: 104,861,113 (GRCm39) D592E probably damaging Het
Gjb4 T C 4: 127,245,663 (GRCm39) M93V possibly damaging Het
Gm5089 C A 14: 122,673,566 (GRCm39) G52* probably null Het
Gm6401 G T 14: 41,788,840 (GRCm39) N76K probably benign Het
Gm6871 A G 7: 41,195,901 (GRCm39) S279P probably damaging Het
Gtf2ird2 T G 5: 134,240,081 (GRCm39) V301G probably benign Het
H2bw2 A C X: 135,828,216 (GRCm39) D35A unknown Het
Hfm1 A G 5: 107,028,380 (GRCm39) F817L probably damaging Het
Hfm1 T C 5: 107,043,869 (GRCm39) E589G probably damaging Het
Hivep2 A T 10: 14,005,249 (GRCm39) K616* probably null Het
Hmcn1 A T 1: 150,551,735 (GRCm39) I2623N probably damaging Het
Igf2bp3 G T 6: 49,082,565 (GRCm39) A339E probably damaging Het
Insyn2b T A 11: 34,354,263 (GRCm39) probably null Het
Irx4 T C 13: 73,415,757 (GRCm39) I182T possibly damaging Het
Jcad T C 18: 4,674,511 (GRCm39) S758P probably damaging Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Lama1 A G 17: 68,060,786 (GRCm39) I705V probably benign Het
Mbd5 A G 2: 49,147,044 (GRCm39) N418S probably benign Het
Mmp21 C T 7: 133,279,014 (GRCm39) V279I probably damaging Het
Morc4 A C X: 138,755,279 (GRCm39) C272W probably damaging Het
Mrm1 A T 11: 84,709,518 (GRCm39) C180S probably damaging Het
Ncor1 T C 11: 62,313,831 (GRCm39) D103G probably damaging Het
Ndrg4 A G 8: 96,437,314 (GRCm39) D251G probably damaging Het
Ndufaf5 T C 2: 140,035,522 (GRCm39) V246A possibly damaging Het
Noa1 T C 5: 77,457,572 (GRCm39) E111G possibly damaging Het
Nod1 C A 6: 54,921,044 (GRCm39) V425F probably damaging Het
Nos1 A T 5: 118,033,984 (GRCm39) I369F probably damaging Het
Nsun5 C T 5: 135,400,170 (GRCm39) H98Y probably damaging Het
Optn G A 2: 5,057,941 (GRCm39) T76I possibly damaging Het
Or14c39 G A 7: 86,344,318 (GRCm39) R218H probably benign Het
Or4k15c C G 14: 50,321,827 (GRCm39) V104L probably benign Het
Or5k1b A G 16: 58,581,504 (GRCm39) F12L probably benign Het
Or8d1b A G 9: 38,887,202 (GRCm39) I77V probably damaging Het
Or8g28 T C 9: 39,169,867 (GRCm39) I37V probably benign Het
Or9g19 C T 2: 85,600,199 (GRCm39) T18I probably benign Het
Oscar C T 7: 3,614,855 (GRCm39) W22* probably null Het
Palmd T A 3: 116,717,306 (GRCm39) Y397F probably damaging Het
Plk1 A G 7: 121,768,121 (GRCm39) D447G probably damaging Het
Plscr5 T A 9: 92,087,581 (GRCm39) N183K probably damaging Het
Polk T G 13: 96,625,712 (GRCm39) D364A probably damaging Het
Polr3d T C 14: 70,680,450 (GRCm39) T36A probably benign Het
Ppp1r10 A T 17: 36,237,428 (GRCm39) R199S probably damaging Het
Prkcz C T 4: 155,346,969 (GRCm39) D388N probably damaging Het
Prrc2b T C 2: 32,102,234 (GRCm39) L769P probably damaging Het
Psg26 A G 7: 18,213,966 (GRCm39) V232A probably damaging Het
Pth2r T C 1: 65,375,997 (GRCm39) V85A possibly damaging Het
Rbpms2 T C 9: 65,566,494 (GRCm39) probably benign Het
Reps1 A T 10: 17,994,698 (GRCm39) D514V possibly damaging Het
Riok3 G T 18: 12,276,018 (GRCm39) R238L probably benign Het
Rnf19a T C 15: 36,244,353 (GRCm39) Q569R probably damaging Het
Rorb G A 19: 18,937,865 (GRCm39) T267I probably damaging Het
Rrm2b A T 15: 37,929,340 (GRCm39) M70K probably damaging Het
Rsf1 A T 7: 97,311,556 (GRCm39) E762V possibly damaging Het
S100a2 G A 3: 90,498,699 (GRCm39) V67I probably benign Het
Skp1 T A 11: 52,133,442 (GRCm39) D42E probably benign Het
Slc22a4 A T 11: 53,918,801 (GRCm39) M1K probably null Het
Slc2a9 T A 5: 38,539,387 (GRCm39) Q371L probably damaging Het
Slc4a9 A G 18: 36,665,075 (GRCm39) T475A probably benign Het
Slc8b1 A G 5: 120,657,717 (GRCm39) N60S probably damaging Het
Slx4 A C 16: 3,817,022 (GRCm39) D66E probably benign Het
Smg8 A T 11: 86,977,113 (GRCm39) I156N probably damaging Het
Snx25 A T 8: 46,569,244 (GRCm39) C218S possibly damaging Het
Sulf2 T C 2: 165,920,992 (GRCm39) I784V probably benign Het
Tatdn2 G T 6: 113,674,888 (GRCm39) R72L possibly damaging Het
Tbc1d8 T C 1: 39,445,918 (GRCm39) D91G possibly damaging Het
Tifab C A 13: 56,324,433 (GRCm39) R3S probably benign Het
Tm4sf1 A T 3: 57,200,304 (GRCm39) S104T probably damaging Het
Tmem132e T A 11: 82,334,343 (GRCm39) I618N probably damaging Het
Ttc7b A T 12: 100,369,667 (GRCm39) D367E probably damaging Het
Txlnb A G 10: 17,719,203 (GRCm39) D678G possibly damaging Het
Vgll4 A G 6: 114,934,895 (GRCm39) probably null Het
Vmn2r124 A T 17: 18,282,187 (GRCm39) probably benign Het
Vmn2r2 T C 3: 64,024,820 (GRCm39) D587G probably benign Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Vps13c T A 9: 67,818,811 (GRCm39) S1077R probably benign Het
Vsig10 C T 5: 117,489,719 (GRCm39) A495V probably benign Het
Vwa3a A T 7: 120,403,254 (GRCm39) probably null Het
Zfhx2 C A 14: 55,303,455 (GRCm39) A1510S possibly damaging Het
Zfp142 T A 1: 74,611,389 (GRCm39) D601V probably damaging Het
Zfp62 T C 11: 49,108,510 (GRCm39) I867T probably benign Het
Other mutations in BC034090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:BC034090 APN 1 155,101,193 (GRCm39) missense possibly damaging 0.95
IGL00159:BC034090 APN 1 155,101,197 (GRCm39) nonsense probably null
IGL00481:BC034090 APN 1 155,108,267 (GRCm39) missense probably benign 0.04
IGL01309:BC034090 APN 1 155,102,130 (GRCm39) missense probably damaging 0.98
IGL01813:BC034090 APN 1 155,102,085 (GRCm39) nonsense probably null
IGL01938:BC034090 APN 1 155,108,338 (GRCm39) splice site probably null
IGL01982:BC034090 APN 1 155,099,078 (GRCm39) missense probably damaging 1.00
IGL02115:BC034090 APN 1 155,108,397 (GRCm39) intron probably benign
IGL02338:BC034090 APN 1 155,093,217 (GRCm39) missense probably damaging 1.00
IGL02406:BC034090 APN 1 155,100,899 (GRCm39) missense probably benign 0.00
IGL03243:BC034090 APN 1 155,101,401 (GRCm39) missense possibly damaging 0.71
IGL03290:BC034090 APN 1 155,101,856 (GRCm39) missense probably damaging 1.00
BB004:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
BB014:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R0055:BC034090 UTSW 1 155,117,404 (GRCm39) missense probably damaging 1.00
R1436:BC034090 UTSW 1 155,101,662 (GRCm39) missense probably benign 0.04
R1649:BC034090 UTSW 1 155,101,319 (GRCm39) missense possibly damaging 0.72
R1819:BC034090 UTSW 1 155,101,575 (GRCm39) missense possibly damaging 0.58
R1969:BC034090 UTSW 1 155,100,972 (GRCm39) missense possibly damaging 0.90
R1996:BC034090 UTSW 1 155,097,340 (GRCm39) unclassified probably benign
R2012:BC034090 UTSW 1 155,097,178 (GRCm39) missense probably damaging 0.98
R2133:BC034090 UTSW 1 155,101,532 (GRCm39) missense probably benign 0.27
R3426:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3427:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3428:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3782:BC034090 UTSW 1 155,102,024 (GRCm39) missense probably damaging 1.00
R3792:BC034090 UTSW 1 155,117,543 (GRCm39) missense probably damaging 0.98
R4234:BC034090 UTSW 1 155,117,326 (GRCm39) missense probably benign
R4373:BC034090 UTSW 1 155,101,904 (GRCm39) missense probably benign 0.22
R4377:BC034090 UTSW 1 155,108,196 (GRCm39) missense probably benign 0.00
R4661:BC034090 UTSW 1 155,108,221 (GRCm39) missense probably damaging 0.98
R4676:BC034090 UTSW 1 155,102,010 (GRCm39) missense possibly damaging 0.60
R4729:BC034090 UTSW 1 155,100,836 (GRCm39) missense probably damaging 1.00
R5170:BC034090 UTSW 1 155,089,396 (GRCm39) missense probably damaging 1.00
R5340:BC034090 UTSW 1 155,102,160 (GRCm39) missense possibly damaging 0.74
R5382:BC034090 UTSW 1 155,101,349 (GRCm39) missense probably benign 0.09
R5384:BC034090 UTSW 1 155,117,773 (GRCm39) missense possibly damaging 0.68
R5576:BC034090 UTSW 1 155,117,214 (GRCm39) missense probably benign 0.01
R5891:BC034090 UTSW 1 155,108,793 (GRCm39) unclassified probably benign
R6060:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
R6092:BC034090 UTSW 1 155,100,659 (GRCm39) missense probably damaging 0.99
R6662:BC034090 UTSW 1 155,102,085 (GRCm39) missense possibly damaging 0.92
R6736:BC034090 UTSW 1 155,117,676 (GRCm39) missense possibly damaging 0.92
R6903:BC034090 UTSW 1 155,097,131 (GRCm39) missense probably benign 0.03
R6970:BC034090 UTSW 1 155,117,185 (GRCm39) missense probably damaging 1.00
R7144:BC034090 UTSW 1 155,117,777 (GRCm39) missense probably damaging 1.00
R7201:BC034090 UTSW 1 155,117,680 (GRCm39) missense probably damaging 0.98
R7265:BC034090 UTSW 1 155,101,073 (GRCm39) missense probably damaging 0.96
R7380:BC034090 UTSW 1 155,108,229 (GRCm39) missense probably damaging 1.00
R7436:BC034090 UTSW 1 155,102,127 (GRCm39) missense probably damaging 1.00
R7569:BC034090 UTSW 1 155,093,151 (GRCm39) missense probably benign 0.00
R7587:BC034090 UTSW 1 155,093,232 (GRCm39) missense probably damaging 1.00
R7664:BC034090 UTSW 1 155,117,377 (GRCm39) missense probably damaging 1.00
R7737:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R7782:BC034090 UTSW 1 155,108,410 (GRCm39) intron probably benign
R7927:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R8079:BC034090 UTSW 1 155,101,032 (GRCm39) missense probably damaging 1.00
R8204:BC034090 UTSW 1 155,117,488 (GRCm39) missense probably damaging 1.00
R8558:BC034090 UTSW 1 155,097,085 (GRCm39) missense possibly damaging 0.95
R8832:BC034090 UTSW 1 155,102,034 (GRCm39) missense probably damaging 1.00
R8858:BC034090 UTSW 1 155,101,964 (GRCm39) missense probably benign 0.17
R8879:BC034090 UTSW 1 155,102,103 (GRCm39) missense probably benign
R9004:BC034090 UTSW 1 155,102,138 (GRCm39) missense possibly damaging 0.87
R9036:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R9141:BC034090 UTSW 1 155,108,474 (GRCm39) intron probably benign
R9293:BC034090 UTSW 1 155,101,518 (GRCm39) missense probably benign 0.29
R9348:BC034090 UTSW 1 155,099,049 (GRCm39) missense probably benign 0.00
R9440:BC034090 UTSW 1 155,101,961 (GRCm39) missense probably benign 0.06
R9477:BC034090 UTSW 1 155,102,087 (GRCm39) missense probably damaging 1.00
R9608:BC034090 UTSW 1 155,099,135 (GRCm39) missense possibly damaging 0.79
R9700:BC034090 UTSW 1 155,101,982 (GRCm39) missense probably damaging 1.00
R9787:BC034090 UTSW 1 155,117,955 (GRCm39) missense possibly damaging 0.95
X0002:BC034090 UTSW 1 155,102,025 (GRCm39) nonsense probably null
Z1187:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1189:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1190:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1192:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGAAACAGAGTCCCCTGAGGTATG -3'
(R):5'- ATGAGAGGAAGTGTCCAGCCTGTG -3'

Sequencing Primer
(F):5'- TTTCTGGACCACCTGGGAC -3'
(R):5'- AGCTGTCTGGAGGAGCG -3'
Posted On 2014-05-14