Incidental Mutation 'R9014:Bahcc1'
ID 685856
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms
MMRRC Submission 068844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R9014 (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 120173048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1557 (S1557P)
Ref Sequence ENSEMBL: ENSMUSP00000112827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]
AlphaFold Q3UHR0
Predicted Effect probably benign
Transcript: ENSMUST00000044985
AA Change: S1557P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: S1557P

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 benign
Transcript: ENSMUST00000118987
AA Change: S1557P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: S1557P

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 benign
Transcript: ENSMUST00000122148
AA Change: S1557P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: S1557P

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: 98.7%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,857 (GRCm39) N746S probably benign Het
Ahnak2 T C 12: 112,740,170 (GRCm39) T1301A possibly damaging Het
Akap6 T A 12: 53,186,403 (GRCm39) N1272K possibly damaging Het
Apc G T 18: 34,354,074 (GRCm39) probably benign Het
Arap1 A G 7: 101,053,540 (GRCm39) S1290G probably damaging Het
Arhgef25 T C 10: 127,019,607 (GRCm39) Y483C probably damaging Het
Arpp21 G T 9: 112,006,796 (GRCm39) Q138K probably damaging Het
Bltp2 T C 11: 78,160,488 (GRCm39) L649P possibly damaging Het
Brca2 C A 5: 150,465,219 (GRCm39) T1661K probably benign Het
Casq1 T A 1: 172,038,064 (GRCm39) S356C probably damaging Het
Catsperg1 T C 7: 28,906,066 (GRCm39) Y171C probably damaging Het
Ccdc88c G C 12: 100,879,323 (GRCm39) Q1926E probably benign Het
Cdc42bpg T A 19: 6,372,289 (GRCm39) M1425K possibly damaging Het
Chac2 C T 11: 30,936,158 (GRCm39) R30Q probably damaging Het
Clca3a1 T C 3: 144,442,731 (GRCm39) D771G probably benign Het
Cyp26c1 T C 19: 37,675,844 (GRCm39) probably null Het
Dcaf8 T C 1: 172,007,530 (GRCm39) V333A possibly damaging Het
Dennd4c G A 4: 86,739,702 (GRCm39) S997N probably benign Het
Dennd4c A C 4: 86,754,666 (GRCm39) I1559L probably benign Het
Dgcr8 T G 16: 18,077,514 (GRCm39) H632P possibly damaging Het
Dhx16 C A 17: 36,193,490 (GRCm39) R278S probably benign Het
Dsel A T 1: 111,788,509 (GRCm39) Y675* probably null Het
Dsp T C 13: 38,376,700 (GRCm39) I1495T possibly damaging Het
Fam227a T A 15: 79,504,958 (GRCm39) N495I possibly damaging Het
Fcgbpl1 A G 7: 27,854,876 (GRCm39) E1834G probably damaging Het
Focad T A 4: 88,275,763 (GRCm39) M1124K unknown Het
Foxi3 A G 6: 70,937,815 (GRCm39) H349R probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Fsip2 C A 2: 82,806,898 (GRCm39) D1072E probably benign Het
Fsip2 T G 2: 82,817,075 (GRCm39) H4269Q possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gm49383 A C 12: 69,243,425 (GRCm39) Y151* probably null Het
Ighv1-26 T A 12: 114,752,033 (GRCm39) S104C probably damaging Het
Kat6a A G 8: 23,430,087 (GRCm39) N1814S unknown Het
Kif18a T A 2: 109,123,414 (GRCm39) H229Q probably damaging Het
Klk1b4 C T 7: 43,859,098 (GRCm39) R39C probably benign Het
Lgr6 T C 1: 134,931,248 (GRCm39) I269V probably damaging Het
Lrtm2 A G 6: 119,294,219 (GRCm39) V304A probably damaging Het
Lsm8 A G 6: 18,853,632 (GRCm39) D78G possibly damaging Het
Mroh2b T C 15: 4,928,670 (GRCm39) M1T probably null Het
Ms4a14 T C 19: 11,278,871 (GRCm39) E1229G possibly damaging Het
Nbeal1 G A 1: 60,329,118 (GRCm39) D2179N probably damaging Het
Nfix G A 8: 85,448,405 (GRCm39) T366M possibly damaging Het
Or12j4 A T 7: 140,045,883 (GRCm39) probably benign Het
Or56b1b A G 7: 108,164,882 (GRCm39) L40P possibly damaging Het
Or8b49 T C 9: 38,506,123 (GRCm39) V202A probably damaging Het
Or8h9 T A 2: 86,789,035 (GRCm39) I256F probably benign Het
Pear1 T C 3: 87,658,479 (GRCm39) Q964R probably benign Het
Pgk2 T G 17: 40,518,687 (GRCm39) E247A probably benign Het
Ppfia2 C T 10: 106,763,666 (GRCm39) P1220S probably benign Het
Ppp1r1b T C 11: 98,241,449 (GRCm39) S46P probably damaging Het
Ppp2ca C A 11: 52,009,510 (GRCm39) H167Q probably damaging Het
Scel A T 14: 103,822,575 (GRCm39) R396S probably benign Het
Siae T C 9: 37,557,639 (GRCm39) V482A possibly damaging Het
Skint2 A G 4: 112,483,026 (GRCm39) M144V probably benign Het
Slc23a3 A G 1: 75,109,274 (GRCm39) F219L probably benign Het
Slc4a4 G T 5: 89,280,245 (GRCm39) A348S probably damaging Het
Spin1 G T 13: 51,282,010 (GRCm39) probably null Het
Tab2 G A 10: 7,794,920 (GRCm39) R521W probably damaging Het
Tas2r118 G A 6: 23,970,049 (GRCm39) T4M probably benign Het
Tet2 T A 3: 133,172,949 (GRCm39) D1771V probably damaging Het
Tmprss15 T C 16: 78,872,691 (GRCm39) T172A probably benign Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Txnrd3 A G 6: 89,631,091 (GRCm39) Y129C probably damaging Het
Ulk4 A G 9: 121,017,294 (GRCm39) I728T probably benign Het
Vmn1r44 G A 6: 89,870,997 (GRCm39) V248M possibly damaging Het
Wdr64 A G 1: 175,526,395 (GRCm39) I15V probably benign Het
Zdhhc17 T C 10: 110,785,544 (GRCm39) T423A probably benign Het
Zfp619 T C 7: 39,187,246 (GRCm39) I1092T probably benign Het
Zfp729b A T 13: 67,740,274 (GRCm39) Y664N probably damaging 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
R7556:Bahcc1 UTSW 11 120,178,589 (GRCm39) missense probably damaging 1.00
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 11 120,163,715 (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'- CTGCTCTTAACAGTCCAGACAGG -3'
(R):5'- AGCCCCTGGTTACTATACCTG -3'

Sequencing Primer
(F):5'- TCCAGACAGGAGGCTGTGTC -3'
(R):5'- CGGTACCCGTTTCTAACA -3'
Posted On 2021-10-11