Incidental Mutation 'R1649:BC034090'
ID 174071
Institutional Source Beutler Lab
Gene Symbol BC034090
Ensembl Gene ENSMUSG00000033722
Gene Name cDNA sequence BC034090
Synonyms
MMRRC Submission 039685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1649 (G1)
Quality Score 172
Status Not validated
Chromosome 1
Chromosomal Location 155088217-155120190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155101319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 315 (H315R)
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: H315R

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: H315R

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 probably benign
Transcript: ENSMUST00000186156
AA Change: H677R

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: H677R

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 T A 4: 116,495,217 (GRCm39) I261F probably damaging Het
Aldh1l1 T C 6: 90,541,371 (GRCm39) V255A probably benign Het
Ambn T A 5: 88,612,340 (GRCm39) M172K probably benign Het
Arhgef18 A G 8: 3,439,094 (GRCm39) probably benign Het
Btaf1 T A 19: 36,959,122 (GRCm39) D707E probably benign Het
C6 T C 15: 4,764,739 (GRCm39) L145P possibly damaging Het
Cav3 T A 6: 112,449,207 (GRCm39) L75Q probably damaging Het
Cavin2 T A 1: 51,339,939 (GRCm39) D205E probably benign Het
Cdadc1 T C 14: 59,811,242 (GRCm39) T423A probably damaging Het
Cep120 A T 18: 53,857,648 (GRCm39) H272Q probably damaging Het
Chd9 A T 8: 91,659,229 (GRCm39) Q63L possibly damaging Het
Clspn T C 4: 126,460,228 (GRCm39) probably benign Het
Cramp1 G T 17: 25,202,217 (GRCm39) H422N probably damaging Het
Csn1s2b A T 5: 87,966,943 (GRCm39) M71L probably benign Het
D630045J12Rik C A 6: 38,158,366 (GRCm39) A1104S probably damaging Het
D930048N14Rik A G 11: 51,545,663 (GRCm39) probably benign Het
Ern2 G A 7: 121,776,623 (GRCm39) P366S probably damaging Het
Gm1527 T C 3: 28,952,880 (GRCm39) I60T probably damaging Het
Gse1 T C 8: 121,305,254 (GRCm39) probably benign Het
Ildr1 T C 16: 36,528,681 (GRCm39) L42P probably damaging Het
Itih2 G A 2: 10,110,546 (GRCm39) T515I probably benign Het
Jcad C A 18: 4,673,309 (GRCm39) P357Q probably damaging Het
Kitl A G 10: 99,899,976 (GRCm39) T94A probably benign Het
Klri1 C T 6: 129,675,204 (GRCm39) M185I probably benign Het
Lsamp A T 16: 41,775,661 (GRCm39) M171L probably benign Het
Macf1 T G 4: 123,377,846 (GRCm39) I1460L probably damaging Het
Map1b C G 13: 99,652,986 (GRCm39) V4L probably benign Het
Mboat7 A T 7: 3,688,817 (GRCm39) V237D probably benign Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Nipsnap2 T A 5: 129,830,301 (GRCm39) I205N probably damaging Het
Nsd2 T C 5: 34,011,984 (GRCm39) V264A probably damaging Het
Oacyl C T 18: 65,883,167 (GRCm39) T582I probably damaging Het
Olfm1 A T 2: 28,119,279 (GRCm39) T333S possibly damaging Het
Olfm4 G A 14: 80,249,422 (GRCm39) E180K probably damaging Het
Or14j6 T C 17: 38,215,060 (GRCm39) F208L probably benign Het
Or2ad1 A T 13: 21,326,912 (GRCm39) L105Q probably damaging Het
Or8g17 T G 9: 38,930,776 (GRCm39) Q20H probably benign Het
Parp4 T A 14: 56,827,885 (GRCm39) V212E possibly damaging Het
Pcdhb21 T A 18: 37,648,666 (GRCm39) N598K probably damaging Het
Piezo2 C A 18: 63,250,743 (GRCm39) W452L probably benign Het
Plec C A 15: 76,090,011 (GRCm39) A110S possibly damaging Het
Popdc3 T C 10: 45,191,320 (GRCm39) Y144H probably damaging Het
Ptgdr T C 14: 45,095,959 (GRCm39) H251R probably benign Het
Ptpro T A 6: 137,421,015 (GRCm39) Y246* probably null Het
Pyroxd2 T C 19: 42,726,573 (GRCm39) D247G probably damaging Het
Robo2 T C 16: 73,695,889 (GRCm39) E1418G probably benign Het
Rtp3 T C 9: 110,815,772 (GRCm39) T198A probably benign Het
Sec16a A T 2: 26,315,536 (GRCm39) V1767D probably damaging Het
Septin14 T C 5: 129,774,819 (GRCm39) N119D probably benign Het
Serpina5 A T 12: 104,071,484 (GRCm39) T364S possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sh3bp2 C T 5: 34,716,348 (GRCm39) A253V possibly damaging Het
Slc6a5 G T 7: 49,586,010 (GRCm39) G443C probably damaging Het
Spag9 T A 11: 93,999,278 (GRCm39) probably null Het
Sptbn1 T C 11: 30,087,301 (GRCm39) E1033G probably damaging Het
Timm17a T G 1: 135,237,540 (GRCm39) Q39P probably damaging Het
Tmem26 A T 10: 68,587,103 (GRCm39) T184S probably damaging Het
Tpi1 A T 6: 124,789,891 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,003 (GRCm39) Y118C possibly damaging Het
Ttll4 T A 1: 74,736,629 (GRCm39) L1118Q possibly damaging Het
Ttll5 T A 12: 85,969,788 (GRCm39) L691Q probably damaging Het
Vmn1r49 A T 6: 90,049,623 (GRCm39) H126Q possibly damaging Het
Zfp518b A T 5: 38,829,224 (GRCm39) V927E probably damaging Het
Zfp618 T C 4: 63,013,774 (GRCm39) F213S probably damaging Het
Zfp759 T A 13: 67,287,668 (GRCm39) N406K 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
R1710:BC034090 UTSW 1 155,101,610 (GRCm39) missense possibly damaging 0.82
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'- CTTGGAAAACGGCACAGCATAAGC -3'
(R):5'- ATTCCCAGGGCTCCACACAGAATG -3'

Sequencing Primer
(F):5'- CATAAGCTGTCCTGCATGGAG -3'
(R):5'- AGGACCTCTCAGTCTAGCAG -3'
Posted On 2014-04-24