Incidental Mutation 'R6550:Bahcc1'
ID 521529
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R6550 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120123773-120183108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120167477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1293 (H1293Y)
Ref Sequence ENSEMBL: ENSMUSP00000043643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]
AlphaFold Q3UHR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000044985
AA Change: H1293Y

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: H1293Y

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 possibly damaging
Transcript: ENSMUST00000118987
AA Change: H1293Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: H1293Y

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 possibly damaging
Transcript: ENSMUST00000122148
AA Change: H1293Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: H1293Y

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
Meta Mutation Damage Score 0.1191 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cbx2 T C 11: 118,919,851 (GRCm39) V472A possibly damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Mtarc2 C A 1: 184,551,539 (GRCm39) R299L probably damaging Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Polrmt C A 10: 79,575,514 (GRCm39) Q672H probably damaging Het
Pp2d1 T C 17: 53,822,604 (GRCm39) D154G probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Slc8b1 A G 5: 120,662,082 (GRCm39) E257G probably damaging Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V 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
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'- AATTCTACTCAGGGAGGGATGC -3'
(R):5'- TGGACAGCTCACTCTTCTGC -3'

Sequencing Primer
(F):5'- CTGTAGATCAGGGGGCACC -3'
(R):5'- AGGTCAGCCAGCTCACTG -3'
Posted On 2018-06-06