Incidental Mutation 'IGL01368:Babam1'
ID 76022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Babam1
Ensembl Gene ENSMUSG00000031820
Gene Name BRISC and BRCA1 A complex member 1
Synonyms 5430437P03Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.597) question?
Stock # IGL01368
Quality Score
Status
Chromosome 8
Chromosomal Location 71396861-71404619 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71398406 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 104 (D104E)
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: D104E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: D104E

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: ENSMUST00000213000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213093
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Babam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03267:Babam1 APN 8 71403064 critical splice donor site probably null
I2288:Babam1 UTSW 8 71397823 missense probably damaging 1.00
R0270:Babam1 UTSW 8 71398406 missense probably damaging 1.00
R1532:Babam1 UTSW 8 71399633 missense possibly damaging 0.54
R1559:Babam1 UTSW 8 71397780 missense probably damaging 0.99
R1740:Babam1 UTSW 8 71403019 missense probably damaging 0.99
R2143:Babam1 UTSW 8 71398440 missense probably damaging 1.00
R2342:Babam1 UTSW 8 71402871 missense probably benign 0.42
R4639:Babam1 UTSW 8 71404307 missense probably damaging 1.00
R4892:Babam1 UTSW 8 71403052 missense probably benign 0.04
R4935:Babam1 UTSW 8 71399802 missense probably benign 0.33
R4965:Babam1 UTSW 8 71404388 missense possibly damaging 0.90
R5192:Babam1 UTSW 8 71404253 missense probably damaging 1.00
R5836:Babam1 UTSW 8 71403043 missense probably benign 0.01
R6340:Babam1 UTSW 8 71402805 missense probably damaging 1.00
R7356:Babam1 UTSW 8 71399564 missense probably benign 0.01
R7967:Babam1 UTSW 8 71404355 missense probably damaging 1.00
R8310:Babam1 UTSW 8 71397985 missense possibly damaging 0.95
R9301:Babam1 UTSW 8 71403040 missense possibly damaging 0.89
Z1177:Babam1 UTSW 8 71399563 missense probably benign 0.33
Posted On 2013-10-07