Incidental Mutation 'R7556:Bahcc1'
ID 584794
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms
MMRRC Submission 045624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R7556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120123773-120183108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120178589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2383 (S2383P)
Ref Sequence ENSEMBL: ENSMUSP00000112827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]
AlphaFold Q3UHR0
Predicted Effect probably damaging
Transcript: ENSMUST00000044985
AA Change: S2383P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: S2383P

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 219 233 N/A INTRINSIC
low complexity region 351 366 N/A INTRINSIC
low complexity region 756 778 N/A INTRINSIC
low complexity region 811 821 N/A INTRINSIC
low complexity region 882 890 N/A INTRINSIC
coiled coil region 931 976 N/A INTRINSIC
low complexity region 1042 1059 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1172 1183 N/A INTRINSIC
low complexity region 1267 1277 N/A INTRINSIC
coiled coil region 1346 1373 N/A INTRINSIC
coiled coil region 1437 1486 N/A INTRINSIC
low complexity region 1706 1711 N/A INTRINSIC
low complexity region 1729 1740 N/A INTRINSIC
low complexity region 1746 1764 N/A INTRINSIC
low complexity region 1865 1891 N/A INTRINSIC
low complexity region 2088 2104 N/A INTRINSIC
low complexity region 2135 2158 N/A INTRINSIC
low complexity region 2209 2224 N/A INTRINSIC
low complexity region 2225 2245 N/A INTRINSIC
low complexity region 2317 2332 N/A INTRINSIC
low complexity region 2348 2387 N/A INTRINSIC
low complexity region 2401 2410 N/A INTRINSIC
low complexity region 2429 2447 N/A INTRINSIC
BAH 2517 2637 4.19e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118987
AA Change: S2383P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: S2383P

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 219 233 N/A INTRINSIC
low complexity region 351 366 N/A INTRINSIC
low complexity region 756 778 N/A INTRINSIC
low complexity region 811 821 N/A INTRINSIC
low complexity region 882 890 N/A INTRINSIC
coiled coil region 931 976 N/A INTRINSIC
low complexity region 1042 1059 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1172 1183 N/A INTRINSIC
low complexity region 1267 1277 N/A INTRINSIC
coiled coil region 1346 1373 N/A INTRINSIC
coiled coil region 1437 1486 N/A INTRINSIC
low complexity region 1706 1711 N/A INTRINSIC
low complexity region 1729 1740 N/A INTRINSIC
low complexity region 1746 1764 N/A INTRINSIC
low complexity region 1865 1891 N/A INTRINSIC
low complexity region 2088 2104 N/A INTRINSIC
low complexity region 2135 2158 N/A INTRINSIC
low complexity region 2209 2224 N/A INTRINSIC
low complexity region 2225 2245 N/A INTRINSIC
low complexity region 2317 2332 N/A INTRINSIC
low complexity region 2348 2387 N/A INTRINSIC
low complexity region 2401 2410 N/A INTRINSIC
low complexity region 2429 2447 N/A INTRINSIC
BAH 2517 2637 4.19e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122148
AA Change: S2383P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: S2383P

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 219 233 N/A INTRINSIC
low complexity region 351 366 N/A INTRINSIC
low complexity region 756 778 N/A INTRINSIC
low complexity region 811 821 N/A INTRINSIC
low complexity region 882 890 N/A INTRINSIC
coiled coil region 931 976 N/A INTRINSIC
low complexity region 1042 1059 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1172 1183 N/A INTRINSIC
low complexity region 1267 1277 N/A INTRINSIC
coiled coil region 1346 1373 N/A INTRINSIC
coiled coil region 1437 1486 N/A INTRINSIC
low complexity region 1706 1711 N/A INTRINSIC
low complexity region 1729 1740 N/A INTRINSIC
low complexity region 1746 1764 N/A INTRINSIC
low complexity region 1865 1891 N/A INTRINSIC
low complexity region 2088 2104 N/A INTRINSIC
low complexity region 2135 2158 N/A INTRINSIC
low complexity region 2209 2224 N/A INTRINSIC
low complexity region 2225 2245 N/A INTRINSIC
low complexity region 2317 2332 N/A INTRINSIC
low complexity region 2348 2387 N/A INTRINSIC
low complexity region 2401 2410 N/A INTRINSIC
low complexity region 2429 2447 N/A INTRINSIC
BAH 2517 2637 4.19e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality for the majority of mutants. Those that survive exhibit hind leg motor dysfunction. [provided by MGI curators]
Allele List at MGI

All alleles(26) : Targeted, knock-out(2) Gene trapped(24)

Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,221,611 (GRCm39) W11* probably null Het
A2ml1 A G 6: 128,546,927 (GRCm39) S401P probably damaging Het
Adamtsl1 T A 4: 86,195,358 (GRCm39) Y592N probably benign Het
Adh6b C T 3: 138,058,546 (GRCm39) T76I probably damaging Het
Aebp2 C A 6: 140,623,137 (GRCm39) P503Q probably benign Het
Ankrd2 A G 19: 42,028,839 (GRCm39) D134G Het
Atf7ip T C 6: 136,538,239 (GRCm39) S491P probably damaging Het
Atp1a3 T C 7: 24,680,991 (GRCm39) D832G probably benign Het
Atrnl1 G A 19: 57,643,278 (GRCm39) V389I probably benign Het
Brd9 A G 13: 74,092,886 (GRCm39) D292G possibly damaging Het
Cacna1e G T 1: 154,348,419 (GRCm39) Q781K probably benign Het
Ccdc9 T C 7: 16,018,491 (GRCm39) probably benign Het
Cdc42ep4 C G 11: 113,619,366 (GRCm39) E342Q probably damaging Het
Celf3 C T 3: 94,387,590 (GRCm39) T54M probably damaging Het
Cenpn T C 8: 117,664,008 (GRCm39) Y267H probably damaging Het
Chrnb4 T C 9: 54,942,339 (GRCm39) T312A probably benign Het
Clcn3 T A 8: 61,382,521 (GRCm39) T383S probably damaging Het
Cln3 T C 7: 126,174,242 (GRCm39) Q327R probably damaging Het
Cnep1r1 T C 8: 88,851,761 (GRCm39) L50P probably damaging Het
Cnot6 T C 11: 49,566,144 (GRCm39) N512S probably benign Het
Col7a1 T A 9: 108,811,533 (GRCm39) probably null Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Dnah5 A G 15: 28,290,389 (GRCm39) I1260V probably null Het
Dock2 G T 11: 34,611,778 (GRCm39) T195K probably benign Het
Dpp9 A T 17: 56,497,012 (GRCm39) I740N possibly damaging Het
Fbxl21 A T 13: 56,674,741 (GRCm39) N31Y probably benign Het
Frat1 G A 19: 41,818,959 (GRCm39) R118Q possibly damaging Het
Gna11 A G 10: 81,367,208 (GRCm39) F228S Het
Golgb1 A T 16: 36,736,155 (GRCm39) M1842L probably benign Het
Got1 A T 19: 43,491,469 (GRCm39) M327K probably damaging Het
H4c9 A G 13: 22,225,414 (GRCm39) I27T probably damaging Het
Hexa T A 9: 59,470,582 (GRCm39) L468Q probably damaging Het
Ift57 G A 16: 49,526,491 (GRCm39) V178I probably benign Het
Kbtbd13 T C 9: 65,298,757 (GRCm39) T60A probably benign Het
Klk1b5 A G 7: 43,496,649 (GRCm39) T194A probably damaging Het
Krtap16-3 C A 16: 88,759,666 (GRCm39) G16C unknown Het
Lamb3 T C 1: 193,014,757 (GRCm39) S639P probably benign Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mcf2l A G 8: 13,023,071 (GRCm39) T86A probably damaging Het
Mecom G T 3: 30,041,220 (GRCm39) H125N probably benign Het
Med18 T C 4: 132,187,247 (GRCm39) H84R probably benign Het
Muc2 A G 7: 141,307,439 (GRCm39) Y798C Het
Mycbp T C 4: 123,799,060 (GRCm39) Y17H probably damaging Het
Nacad C T 11: 6,551,272 (GRCm39) V640M possibly damaging Het
Ncoa1 C T 12: 4,320,794 (GRCm39) V1092I probably damaging Het
Nomo1 A G 7: 45,715,642 (GRCm39) E696G probably damaging Het
Notch4 G A 17: 34,794,444 (GRCm39) C741Y probably damaging Het
Or10g7 A G 9: 39,905,978 (GRCm39) N291D probably damaging Het
Or6d12 C T 6: 116,493,697 (GRCm39) Q320* probably null Het
Osbpl10 C A 9: 115,036,692 (GRCm39) H229Q probably damaging Het
Pif1 A T 9: 65,496,993 (GRCm39) probably null Het
Plk2 T G 13: 110,533,122 (GRCm39) probably null Het
Ppp1r42 T C 1: 10,065,408 (GRCm39) H172R probably benign Het
Ring1 A G 17: 34,240,688 (GRCm39) I363T possibly damaging Het
Rnf168 T G 16: 32,117,863 (GRCm39) Y475D probably damaging Het
Sbf2 T A 7: 109,913,260 (GRCm39) K1671N probably benign Het
Sema6d A G 2: 124,496,109 (GRCm39) N51S probably damaging Het
Setx C A 2: 29,036,505 (GRCm39) Q997K possibly damaging Het
Skint5 T G 4: 113,425,162 (GRCm39) Q1088P unknown Het
Slc22a27 T C 19: 7,843,119 (GRCm39) D528G probably damaging Het
Slc6a7 T A 18: 61,140,514 (GRCm39) K173* probably null Het
Smc2 T C 4: 52,457,379 (GRCm39) F380L probably benign Het
Spata31d1a T C 13: 59,849,798 (GRCm39) M777V probably benign Het
Stkld1 A T 2: 26,837,307 (GRCm39) N319I possibly damaging Het
Tanc2 T C 11: 105,799,857 (GRCm39) V93A Het
Tbx20 T C 9: 24,661,573 (GRCm39) probably null Het
Trbv20 G A 6: 41,165,715 (GRCm39) V47I probably benign Het
Trip4 A T 9: 65,782,155 (GRCm39) C192* probably null Het
Tsbp1 A T 17: 34,656,691 (GRCm39) I103F unknown Het
Tulp2 A G 7: 45,168,005 (GRCm39) probably null Het
Ush2a C A 1: 188,689,690 (GRCm39) P5084Q probably benign Het
Virma T C 4: 11,518,927 (GRCm39) Y675H probably damaging Het
Vmn2r102 T A 17: 19,898,093 (GRCm39) N369K probably benign Het
Vmn2r59 A T 7: 41,695,233 (GRCm39) M393K probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null Het
Xpot A G 10: 121,449,411 (GRCm39) S30P probably benign Het
Zfp947 T C 17: 22,364,597 (GRCm39) Y359C probably benign Het
Other mutations in Bahcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bahcc1 APN 11 120,163,130 (GRCm39) missense probably damaging 1.00
IGL00536:Bahcc1 APN 11 120,175,871 (GRCm39) missense probably damaging 0.96
IGL01339:Bahcc1 APN 11 120,180,338 (GRCm39) missense probably damaging 1.00
IGL01695:Bahcc1 APN 11 120,167,435 (GRCm39) missense probably benign 0.02
IGL01744:Bahcc1 APN 11 120,162,563 (GRCm39) missense probably benign 0.02
IGL01769:Bahcc1 APN 11 120,171,030 (GRCm39) splice site probably benign
IGL01982:Bahcc1 APN 11 120,178,299 (GRCm39) missense probably damaging 1.00
IGL02341:Bahcc1 APN 11 120,163,346 (GRCm39) missense probably damaging 1.00
IGL02535:Bahcc1 APN 11 120,178,362 (GRCm39) missense possibly damaging 0.88
IGL02559:Bahcc1 APN 11 120,175,998 (GRCm39) missense probably damaging 0.97
IGL02579:Bahcc1 APN 11 120,176,175 (GRCm39) splice site probably benign
IGL02609:Bahcc1 APN 11 120,180,224 (GRCm39) missense possibly damaging 0.93
IGL02678:Bahcc1 APN 11 120,163,697 (GRCm39) missense probably damaging 1.00
IGL02800:Bahcc1 APN 11 120,163,760 (GRCm39) missense probably damaging 1.00
IGL02963:Bahcc1 APN 11 120,165,758 (GRCm39) missense possibly damaging 0.86
IGL03128:Bahcc1 APN 11 120,159,260 (GRCm39) splice site probably benign
IGL03242:Bahcc1 APN 11 120,159,126 (GRCm39) splice site probably benign
IGL03248:Bahcc1 APN 11 120,159,235 (GRCm39) missense probably damaging 1.00
Dimensionality UTSW 11 120,163,835 (GRCm39) missense probably damaging 1.00
G1citation:Bahcc1 UTSW 11 120,178,547 (GRCm39) missense probably damaging 1.00
R0019:Bahcc1 UTSW 11 120,180,597 (GRCm39) missense probably damaging 1.00
R0040:Bahcc1 UTSW 11 120,159,196 (GRCm39) missense probably damaging 1.00
R0040:Bahcc1 UTSW 11 120,159,196 (GRCm39) missense probably damaging 1.00
R0148:Bahcc1 UTSW 11 120,159,230 (GRCm39) missense probably damaging 1.00
R0164:Bahcc1 UTSW 11 120,175,900 (GRCm39) splice site probably benign
R0321:Bahcc1 UTSW 11 120,164,251 (GRCm39) critical splice donor site probably null
R0671:Bahcc1 UTSW 11 120,178,146 (GRCm39) missense probably damaging 1.00
R0737:Bahcc1 UTSW 11 120,163,667 (GRCm39) missense probably damaging 1.00
R1452:Bahcc1 UTSW 11 120,173,065 (GRCm39) splice site probably benign
R1570:Bahcc1 UTSW 11 120,163,009 (GRCm39) missense possibly damaging 0.74
R1914:Bahcc1 UTSW 11 120,176,225 (GRCm39) missense probably damaging 1.00
R2010:Bahcc1 UTSW 11 120,163,604 (GRCm39) missense probably damaging 1.00
R2075:Bahcc1 UTSW 11 120,162,515 (GRCm39) missense probably damaging 1.00
R2085:Bahcc1 UTSW 11 120,178,908 (GRCm39) missense probably damaging 1.00
R3552:Bahcc1 UTSW 11 120,167,598 (GRCm39) missense possibly damaging 0.90
R3711:Bahcc1 UTSW 11 120,165,923 (GRCm39) missense probably benign 0.27
R3804:Bahcc1 UTSW 11 120,174,184 (GRCm39) missense probably benign 0.01
R4349:Bahcc1 UTSW 11 120,150,027 (GRCm39) missense probably damaging 1.00
R4557:Bahcc1 UTSW 11 120,165,914 (GRCm39) missense probably damaging 1.00
R4801:Bahcc1 UTSW 11 120,173,051 (GRCm39) missense probably benign 0.00
R4802:Bahcc1 UTSW 11 120,173,051 (GRCm39) missense probably benign 0.00
R4908:Bahcc1 UTSW 11 120,178,580 (GRCm39) missense probably benign 0.36
R4941:Bahcc1 UTSW 11 120,177,491 (GRCm39) missense probably benign
R5217:Bahcc1 UTSW 11 120,165,285 (GRCm39) nonsense probably null
R5241:Bahcc1 UTSW 11 120,162,229 (GRCm39) missense probably damaging 1.00
R5432:Bahcc1 UTSW 11 120,178,814 (GRCm39) missense probably benign 0.02
R5696:Bahcc1 UTSW 11 120,164,813 (GRCm39) missense probably damaging 1.00
R5724:Bahcc1 UTSW 11 120,176,192 (GRCm39) missense possibly damaging 0.78
R5725:Bahcc1 UTSW 11 120,165,714 (GRCm39) missense probably benign
R5788:Bahcc1 UTSW 11 120,177,178 (GRCm39) missense probably damaging 1.00
R5893:Bahcc1 UTSW 11 120,176,256 (GRCm39) missense probably damaging 0.99
R5900:Bahcc1 UTSW 11 120,175,319 (GRCm39) missense probably damaging 1.00
R6014:Bahcc1 UTSW 11 120,180,615 (GRCm39) missense probably benign 0.00
R6058:Bahcc1 UTSW 11 120,178,211 (GRCm39) missense probably damaging 1.00
R6107:Bahcc1 UTSW 11 120,163,714 (GRCm39) missense probably benign 0.00
R6302:Bahcc1 UTSW 11 120,167,634 (GRCm39) missense probably damaging 1.00
R6525:Bahcc1 UTSW 11 120,176,048 (GRCm39) missense probably damaging 1.00
R6550:Bahcc1 UTSW 11 120,167,477 (GRCm39) missense possibly damaging 0.94
R6822:Bahcc1 UTSW 11 120,178,547 (GRCm39) missense probably damaging 1.00
R6836:Bahcc1 UTSW 11 120,162,583 (GRCm39) nonsense probably null
R6846:Bahcc1 UTSW 11 120,162,422 (GRCm39) missense possibly damaging 0.92
R6916:Bahcc1 UTSW 11 120,163,835 (GRCm39) missense probably damaging 1.00
R6966:Bahcc1 UTSW 11 120,173,985 (GRCm39) missense probably damaging 0.99
R7097:Bahcc1 UTSW 11 120,163,472 (GRCm39) missense possibly damaging 0.87
R7289:Bahcc1 UTSW 11 120,171,000 (GRCm39) missense probably benign 0.08
R7441:Bahcc1 UTSW 11 120,177,132 (GRCm39) missense probably damaging 0.99
R7520:Bahcc1 UTSW 11 120,167,031 (GRCm39) missense possibly damaging 0.47
R7672:Bahcc1 UTSW 11 120,174,172 (GRCm39) missense possibly damaging 0.63
R7791:Bahcc1 UTSW 11 120,159,203 (GRCm39) missense probably damaging 1.00
R7794:Bahcc1 UTSW 11 120,163,507 (GRCm39) nonsense probably null
R7802:Bahcc1 UTSW 11 120,165,518 (GRCm39) missense probably benign 0.03
R7946:Bahcc1 UTSW 11 120,163,325 (GRCm39) missense probably benign
R7985:Bahcc1 UTSW 11 120,163,717 (GRCm39) missense probably damaging 0.97
R8128:Bahcc1 UTSW 11 120,163,216 (GRCm39) nonsense probably null
R8131:Bahcc1 UTSW 11 120,163,664 (GRCm39) missense probably benign 0.01
R8353:Bahcc1 UTSW 11 120,165,251 (GRCm39) missense probably damaging 1.00
R8439:Bahcc1 UTSW 11 120,165,415 (GRCm39) missense probably benign 0.01
R8710:Bahcc1 UTSW 11 120,174,953 (GRCm39) missense probably damaging 1.00
R8799:Bahcc1 UTSW 11 120,177,173 (GRCm39) missense probably damaging 1.00
R8810:Bahcc1 UTSW 11 120,164,587 (GRCm39) missense possibly damaging 0.76
R8920:Bahcc1 UTSW 11 120,175,331 (GRCm39) missense probably damaging 1.00
R8924:Bahcc1 UTSW 11 120,167,591 (GRCm39) missense probably benign 0.09
R9014:Bahcc1 UTSW 11 120,173,048 (GRCm39) missense probably benign
R9014:Bahcc1 UTSW 11 120,163,715 (GRCm39) missense probably benign 0.00
R9195:Bahcc1 UTSW 11 120,167,337 (GRCm39) missense probably benign
R9216:Bahcc1 UTSW 11 120,177,514 (GRCm39) missense probably damaging 1.00
R9328:Bahcc1 UTSW 11 120,165,885 (GRCm39) missense possibly damaging 0.61
R9392:Bahcc1 UTSW 11 120,163,513 (GRCm39) nonsense probably null
R9562:Bahcc1 UTSW 11 120,150,035 (GRCm39) missense possibly damaging 0.87
R9680:Bahcc1 UTSW 11 120,163,286 (GRCm39) missense possibly damaging 0.92
R9797:Bahcc1 UTSW 11 120,159,147 (GRCm39) nonsense probably null
X0026:Bahcc1 UTSW 11 120,162,578 (GRCm39) missense probably benign 0.20
Z1176:Bahcc1 UTSW 11 120,175,220 (GRCm39) missense probably benign 0.00
Z1176:Bahcc1 UTSW 11 120,167,435 (GRCm39) missense possibly damaging 0.89
Z1177:Bahcc1 UTSW 11 120,163,747 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CACTGCCCTGTGATAGTGAC -3'
(R):5'- TTGGATTTGCTACCACTGGG -3'

Sequencing Primer
(F):5'- TGTGATAGTGACTGCCCCAG -3'
(R):5'- ATTTGCTACCACTGGGGCTGG -3'
Posted On 2019-10-17