Incidental Mutation 'R2075:Bahcc1'
ID 227552
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms
MMRRC Submission 040080-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R2075 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120123773-120183108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120162515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 271 (C271Y)
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: C271Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: C271Y

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: C271Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: C271Y

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: C271Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: C271Y

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 noncoding transcript
Transcript: ENSMUST00000197891
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,472,382 (GRCm39) F4263L probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Atic T A 1: 71,615,286 (GRCm39) D438E probably benign Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ccdc149 A G 5: 52,596,510 (GRCm39) L34P probably damaging Het
Cd22 C G 7: 30,569,123 (GRCm39) C637S probably damaging Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chmp1a A T 8: 123,934,761 (GRCm39) M65K probably damaging Het
Clec16a G A 16: 10,559,480 (GRCm39) A918T probably benign Het
Clec2m C T 6: 129,303,666 (GRCm39) E100K probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dhx32 T C 7: 133,323,021 (GRCm39) N731S probably benign Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dna2 A G 10: 62,805,601 (GRCm39) Q946R probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Esr2 A G 12: 76,212,221 (GRCm39) probably null Het
Fbxo9 G T 9: 77,991,798 (GRCm39) H397N possibly damaging Het
Fsip2 T A 2: 82,818,923 (GRCm39) N4885K possibly damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Hivep1 A G 13: 42,309,794 (GRCm39) D678G probably damaging Het
Hmcn1 T A 1: 150,453,074 (GRCm39) I5414F possibly damaging Het
Hspb2 T C 9: 50,662,646 (GRCm39) Y67C probably benign Het
Kbtbd8 T A 6: 95,103,664 (GRCm39) C438S possibly damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Ky A G 9: 102,419,945 (GRCm39) S651G probably damaging Het
Lgals12 T C 19: 7,576,210 (GRCm39) D238G possibly damaging Het
Lpcat3 T A 6: 124,680,066 (GRCm39) Y380N probably damaging Het
Mdn1 A G 4: 32,716,058 (GRCm39) H2080R probably benign Het
Mex3c C T 18: 73,722,840 (GRCm39) S311L probably benign Het
Mlh3 A T 12: 85,315,915 (GRCm39) Y90* probably null Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Myo5a A T 9: 75,097,200 (GRCm39) T49S probably benign Het
Nsd1 T C 13: 55,458,313 (GRCm39) V2142A possibly damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or51b17 T A 7: 103,542,127 (GRCm39) I272F probably damaging Het
Or51i2 T A 7: 103,689,180 (GRCm39) M59K probably damaging Het
Or5ac19 T C 16: 59,089,274 (GRCm39) Y252C possibly damaging Het
Pdgfra T C 5: 75,348,609 (GRCm39) I883T probably damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf24 A G 4: 42,939,507 (GRCm39) Y333C possibly damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Piezo2 C T 18: 63,214,805 (GRCm39) E1263K probably damaging Het
Pitrm1 A G 13: 6,605,419 (GRCm39) T149A probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Polr2c A G 8: 95,590,195 (GRCm39) I267V probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Prss8 C A 7: 127,526,266 (GRCm39) R148L possibly damaging Het
Ptpn2 T A 18: 67,814,545 (GRCm39) T155S probably damaging Het
Ptprn2 G A 12: 117,211,337 (GRCm39) V839I probably benign Het
Sbp A G 17: 24,164,132 (GRCm39) probably null Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Slc6a20b T A 9: 123,424,099 (GRCm39) T623S probably benign Het
Sqle T A 15: 59,195,750 (GRCm39) V342E probably damaging Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnc G A 4: 63,913,903 (GRCm39) T1303M possibly damaging Het
Traf6 A C 2: 101,527,398 (GRCm39) I383L probably benign Het
Tubb3 C T 8: 124,148,009 (GRCm39) A314V probably damaging Het
Vmn1r199 A T 13: 22,567,435 (GRCm39) Y243F probably damaging Het
Vmn2r111 A C 17: 22,778,043 (GRCm39) N545K probably damaging Het
Vmn2r27 T A 6: 124,177,510 (GRCm39) Q498L possibly damaging Het
Vstm4 A T 14: 32,639,811 (GRCm39) S229C probably damaging Het
Wdr12 C T 1: 60,130,222 (GRCm39) R63Q possibly damaging Het
Wrn T A 8: 33,812,357 (GRCm39) I187L probably benign Het
Xirp2 A T 2: 67,340,545 (GRCm39) I929L probably benign Het
Ywhae T A 11: 75,655,486 (GRCm39) D252E probably benign Het
Zfp944 A T 17: 22,558,178 (GRCm39) C356* probably null 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
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 11 120,173,048 (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'- TTTGACCGCTTCCTCATGGG -3'
(R):5'- CTGTGTAGGATACAGCATGATGC -3'

Sequencing Primer
(F):5'- ACCGCTTCCTCATGGGTAAAGAG -3'
(R):5'- AGGCACTCACTGAAGGCTG -3'
Posted On 2014-09-17