Incidental Mutation 'R0737:Bahcc1'
ID 70533
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms
MMRRC Submission 038918-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R0737 (G1)
Quality Score 206
Status Not validated
Chromosome 11
Chromosomal Location 120123773-120183108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120163667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 655 (P655Q)
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: P655Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: P655Q

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: P655Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: P655Q

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: P655Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: P655Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik T A X: 69,437,813 (GRCm39) probably benign Het
Aff4 T A 11: 53,301,780 (GRCm39) L1043* probably null Het
Ankrd11 G T 8: 123,622,575 (GRCm39) R426S probably damaging Het
Atm T A 9: 53,367,866 (GRCm39) N2422I probably damaging Het
Baz2a A G 10: 127,951,949 (GRCm39) I556V possibly damaging Het
Ccdc33 T C 9: 57,989,331 (GRCm39) D114G probably damaging Het
Cdk5rap2 T C 4: 70,255,612 (GRCm39) H424R probably benign Het
Cfap57 T C 4: 118,438,299 (GRCm39) E864G possibly damaging Het
Cit T A 5: 116,084,978 (GRCm39) S836R probably damaging Het
Clip4 C T 17: 72,144,694 (GRCm39) Q95* probably null Het
Col17a1 C T 19: 47,657,872 (GRCm39) G433S possibly damaging Het
Col6a3 A G 1: 90,756,020 (GRCm39) F90L probably damaging Het
Cybc1 C T 11: 121,118,068 (GRCm39) probably null Het
Degs1l G A 1: 180,882,944 (GRCm39) M235I probably benign Het
Dnah9 T C 11: 65,998,724 (GRCm39) H1108R probably damaging Het
Elac1 A T 18: 73,872,110 (GRCm39) M295K probably damaging Het
Epas1 G T 17: 87,136,884 (GRCm39) G816C possibly damaging Het
Ermap C A 4: 119,035,707 (GRCm39) C427F probably damaging Het
Fbxo44 T C 4: 148,243,266 (GRCm39) probably benign Het
Fmo4 T A 1: 162,635,961 (GRCm39) K14* probably null Het
Gadl1 G A 9: 115,903,055 (GRCm39) M461I probably damaging Het
Garnl3 T A 2: 32,880,654 (GRCm39) I868F probably damaging Het
Gm7168 A G 17: 14,169,245 (GRCm39) D204G probably damaging Het
Hs6st3 T C 14: 120,106,795 (GRCm39) F401S possibly damaging Het
Kcnmb1 A T 11: 33,914,701 (GRCm39) M1L probably benign Het
Krt35 T C 11: 99,984,620 (GRCm39) T292A probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lamb2 T A 9: 108,360,993 (GRCm39) W572R probably benign Het
Letmd1 A G 15: 100,367,702 (GRCm39) T87A probably damaging Het
Lrp2 A G 2: 69,278,513 (GRCm39) Y3947H probably damaging Het
Mocos T C 18: 24,822,044 (GRCm39) F685L probably damaging Het
Nsun6 A T 2: 15,001,285 (GRCm39) F424I probably damaging Het
Nup88 A G 11: 70,860,776 (GRCm39) M1T probably null Het
Or13p5 C T 4: 118,592,421 (GRCm39) R232C probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c29 T C 2: 88,740,617 (GRCm39) N40S probably damaging Het
Pcdhb12 T A 18: 37,570,762 (GRCm39) V636D probably damaging Het
Pclo C A 5: 14,565,453 (GRCm39) A73E probably damaging Het
Pdlim7 A T 13: 55,652,693 (GRCm39) probably null Het
Phldb1 G A 9: 44,610,933 (GRCm39) P67S possibly damaging Het
Ppp2r2b T C 18: 43,192,257 (GRCm39) T17A probably benign Het
Ppp4r3c2 A G X: 88,797,926 (GRCm39) H586R probably benign Het
Rab11fip4 T C 11: 79,574,328 (GRCm39) V241A probably benign Het
Slc41a1 T C 1: 131,768,690 (GRCm39) L216P probably damaging Het
Slco1a8 G T 6: 141,949,154 (GRCm39) A74E possibly damaging Het
Smg6 T A 11: 75,050,662 (GRCm39) D1352E probably damaging Het
Tbc1d9 A T 8: 83,985,942 (GRCm39) I816F probably damaging Het
Tex264 T C 9: 106,536,498 (GRCm39) T220A probably benign Het
Tmco6 G A 18: 36,874,829 (GRCm39) V439I probably damaging Het
Tmem64 A G 4: 15,266,717 (GRCm39) I256V probably damaging Het
Tnks1bp1 A G 2: 84,882,880 (GRCm39) S236G possibly damaging Het
Tsc1 A G 2: 28,560,942 (GRCm39) T267A possibly damaging Het
Txndc2 A G 17: 65,946,548 (GRCm39) probably null Het
Vmn2r94 G A 17: 18,497,695 (GRCm39) Q26* probably null Het
Zan T C 5: 137,387,511 (GRCm39) D4900G unknown Het
Zkscan3 T C 13: 21,572,766 (GRCm39) T122A 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
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 11 120,173,048 (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'- TTTGAGTTGCCCACTTCACAGGAC -3'
(R):5'- TGCCGCCCACTGTTGGTATTGTAG -3'

Sequencing Primer
(F):5'- CTGCACTTTAGACAAAGTGGC -3'
(R):5'- GCCGACCGTGTCCTTCTG -3'
Posted On 2013-09-30