Incidental Mutation 'I2288:Babam1'
ID 7900
Institutional Source Beutler Lab
Gene Symbol Babam1
Ensembl Gene ENSMUSG00000031820
Gene Name BRISC and BRCA1 A complex member 1
Synonyms 5430437P03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 71849505-71857263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71850467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 32 (R32Q)
Ref Sequence ENSEMBL: ENSMUSP00000002473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000049184] [ENSMUST00000212626]
AlphaFold Q3UI43
Predicted Effect probably damaging
Transcript: ENSMUST00000002473
AA Change: R32Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: R32Q

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049184
SMART Domains Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
coiled coil region 179 218 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 288 352 1.3e-29 PFAM
Blast:HOLI 467 623 2e-24 BLAST
coiled coil region 628 662 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212383
Predicted Effect probably benign
Transcript: ENSMUST00000212626
Predicted Effect probably benign
Transcript: ENSMUST00000212769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213000
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 84.8%
Validation Efficiency 71% (138/195)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,174,677 (GRCm39) I696N probably damaging Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Adgrv1 A G 13: 81,585,643 (GRCm39) L4607P probably damaging Het
Alppl2 A T 1: 87,015,898 (GRCm39) M284K possibly damaging Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arid2 T C 15: 96,267,392 (GRCm39) V624A possibly damaging Het
Camk1g C T 1: 193,033,414 (GRCm39) probably benign Homo
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
Clasp1 A G 1: 118,492,959 (GRCm39) H1168R probably benign Het
Crkl A G 16: 17,301,612 (GRCm39) T289A probably damaging Het
Dlec1 A G 9: 118,972,669 (GRCm39) D1464G probably damaging Het
Dmxl2 A T 9: 54,309,077 (GRCm39) H1891Q probably damaging Het
Dnah10 G A 5: 124,807,164 (GRCm39) A150T probably benign Het
Dnah8 A G 17: 30,882,428 (GRCm39) T667A probably benign Het
Fpr-rs3 A T 17: 20,844,757 (GRCm39) L128Q probably damaging Het
Fxn C T 19: 24,239,431 (GRCm39) probably benign Homo
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
Gramd1b T C 9: 40,218,101 (GRCm39) I572V probably damaging Het
Iqch A T 9: 63,408,172 (GRCm39) I664K probably benign Het
Kcnn2 T A 18: 45,808,340 (GRCm39) probably benign Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Lrrc40 T A 3: 157,758,426 (GRCm39) I277K probably damaging Het
Myo1e A G 9: 70,249,379 (GRCm39) E493G possibly damaging Homo
Nrcam C A 12: 44,611,098 (GRCm39) H567Q probably benign Homo
Or52d3 T C 7: 104,229,593 (GRCm39) C247R probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Homo
Or5w19 T A 2: 87,698,479 (GRCm39) I48N probably damaging Het
Parvg C A 15: 84,212,981 (GRCm39) probably benign Het
Ripk4 A G 16: 97,549,345 (GRCm39) V237A probably benign Het
Spam1 A G 6: 24,796,477 (GRCm39) I143V probably benign Het
Synj2 A G 17: 6,072,542 (GRCm39) probably benign Het
Taar4 A G 10: 23,836,818 (GRCm39) T143A probably benign Het
Ttc12 T A 9: 49,381,558 (GRCm39) M138L possibly damaging Het
Ttll9 A G 2: 152,814,259 (GRCm39) probably benign Het
Usp34 T A 11: 23,382,473 (GRCm39) probably benign Homo
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Other mutations in Babam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Babam1 APN 8 71,851,050 (GRCm39) missense probably damaging 1.00
IGL03267:Babam1 APN 8 71,855,708 (GRCm39) critical splice donor site probably null
R0270:Babam1 UTSW 8 71,851,050 (GRCm39) missense probably damaging 1.00
R1532:Babam1 UTSW 8 71,852,277 (GRCm39) missense possibly damaging 0.54
R1559:Babam1 UTSW 8 71,850,424 (GRCm39) missense probably damaging 0.99
R1740:Babam1 UTSW 8 71,855,663 (GRCm39) missense probably damaging 0.99
R2143:Babam1 UTSW 8 71,851,084 (GRCm39) missense probably damaging 1.00
R2342:Babam1 UTSW 8 71,855,515 (GRCm39) missense probably benign 0.42
R4639:Babam1 UTSW 8 71,856,951 (GRCm39) missense probably damaging 1.00
R4892:Babam1 UTSW 8 71,855,696 (GRCm39) missense probably benign 0.04
R4935:Babam1 UTSW 8 71,852,446 (GRCm39) missense probably benign 0.33
R4965:Babam1 UTSW 8 71,857,032 (GRCm39) missense possibly damaging 0.90
R5192:Babam1 UTSW 8 71,856,897 (GRCm39) missense probably damaging 1.00
R5836:Babam1 UTSW 8 71,855,687 (GRCm39) missense probably benign 0.01
R6340:Babam1 UTSW 8 71,855,449 (GRCm39) missense probably damaging 1.00
R7356:Babam1 UTSW 8 71,852,208 (GRCm39) missense probably benign 0.01
R7967:Babam1 UTSW 8 71,856,999 (GRCm39) missense probably damaging 1.00
R8310:Babam1 UTSW 8 71,850,629 (GRCm39) missense possibly damaging 0.95
R9301:Babam1 UTSW 8 71,855,684 (GRCm39) missense possibly damaging 0.89
Z1177:Babam1 UTSW 8 71,852,207 (GRCm39) missense probably benign 0.33
Posted On 2012-11-13