Incidental Mutation 'R0164:Bahcc1'
ID 24062
Institutional Source Beutler Lab
Gene Symbol Bahcc1
Ensembl Gene ENSMUSG00000039741
Gene Name BAH domain and coiled-coil containing 1
Synonyms KIAA1447
MMRRC Submission 038440-MU
Accession Numbers

Genbank: NM_198423; MGI: 2679272

Essential gene? Probably essential (E-score: 0.834) question?
Stock # R0164 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120232947-120292296 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 120285074 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]
AlphaFold Q3UHR0
Predicted Effect probably benign
Transcript: ENSMUST00000044985
SMART Domains Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741

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
SMART Domains Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741

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
SMART Domains Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741

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: ENSMUST00000143667
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (85/87)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,295,159 (GRCm38) probably benign Het
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC 10: 95,794,578 (GRCm38) probably null Het
4930522L14Rik T C 5: 109,736,847 (GRCm38) K382E probably damaging Het
Adck1 A G 12: 88,455,510 (GRCm38) E297G probably damaging Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aldh3a2 C T 11: 61,248,888 (GRCm38) V473I probably benign Het
Arfgef3 A T 10: 18,647,915 (GRCm38) I369K possibly damaging Het
Atl2 A G 17: 79,853,831 (GRCm38) probably benign Het
Atp1b3 T C 9: 96,338,709 (GRCm38) I178V possibly damaging Het
Axdnd1 T C 1: 156,378,386 (GRCm38) E520G possibly damaging Het
BB019430 A T 10: 58,704,271 (GRCm38) noncoding transcript Het
BC028528 A T 3: 95,887,334 (GRCm38) probably benign Het
Btbd1 T A 7: 81,801,003 (GRCm38) Q343L probably benign Het
Catsper1 A G 19: 5,339,475 (GRCm38) T473A possibly damaging Het
Chmp6 G A 11: 119,915,523 (GRCm38) probably null Het
D130040H23Rik T C 8: 69,302,543 (GRCm38) V200A possibly damaging Het
D830013O20Rik C T 12: 73,364,331 (GRCm38) noncoding transcript Het
Dcaf1 T A 9: 106,844,145 (GRCm38) S379T possibly damaging Het
Dcaf4 G A 12: 83,535,988 (GRCm38) probably benign Het
Dhx58 T C 11: 100,695,324 (GRCm38) I624V probably benign Het
Disp3 T C 4: 148,254,251 (GRCm38) E821G probably damaging Het
Dlc1 T A 8: 36,599,440 (GRCm38) E464V probably damaging Het
Dnah10 G A 5: 124,783,834 (GRCm38) V2151I probably damaging Het
Dnah6 C T 6: 73,188,535 (GRCm38) probably benign Het
Dnah8 G A 17: 30,748,665 (GRCm38) G2617D probably benign Het
Dnah9 C A 11: 65,918,804 (GRCm38) E872* probably null Het
Dock9 T C 14: 121,597,665 (GRCm38) Y99C probably damaging Het
Dpy19l3 T A 7: 35,716,646 (GRCm38) I310F probably damaging Het
Fggy A T 4: 95,837,654 (GRCm38) I137F probably damaging Het
Gli2 A G 1: 118,890,283 (GRCm38) probably benign Het
Gm14421 A T 2: 177,056,722 (GRCm38) noncoding transcript Het
Gm5689 T A 18: 42,173,543 (GRCm38) D58E probably damaging Het
Grin2a A G 16: 9,994,821 (GRCm38) probably null Het
Grin2b A G 6: 135,778,648 (GRCm38) probably benign Het
Incenp A G 19: 9,894,879 (GRCm38) S72P probably benign Het
Ipo11 A G 13: 106,910,194 (GRCm38) probably benign Het
Klc3 T A 7: 19,394,926 (GRCm38) N469Y possibly damaging Het
Lrrc42 A G 4: 107,247,505 (GRCm38) S88P probably benign Het
Lrrc49 G A 9: 60,680,600 (GRCm38) T93I probably benign Het
Ltn1 G A 16: 87,405,519 (GRCm38) probably benign Het
Mlycd A T 8: 119,407,641 (GRCm38) Q294L probably damaging Het
Mmrn1 T A 6: 60,975,815 (GRCm38) probably benign Het
Mrpl22 T A 11: 58,171,821 (GRCm38) I19N probably benign Het
Msh3 T A 13: 92,349,209 (GRCm38) K202N probably damaging Het
N4bp2 T C 5: 65,803,573 (GRCm38) probably benign Het
Ncam1 C T 9: 49,568,409 (GRCm38) D90N probably damaging Het
Nckap5 A T 1: 126,024,407 (GRCm38) D1405E possibly damaging Het
Ncoa2 A G 1: 13,186,731 (GRCm38) probably null Het
Ncoa6 TGC TGCGC 2: 155,408,291 (GRCm38) probably null Het
Nlrp1b A T 11: 71,164,099 (GRCm38) W844R probably damaging Het
Nmnat1 G T 4: 149,469,150 (GRCm38) N168K possibly damaging Het
Olfr1446 A G 19: 12,890,445 (GRCm38) L44P probably damaging Het
Ost4 T C 5: 30,907,459 (GRCm38) H26R probably damaging Het
Otog G A 7: 46,304,231 (GRCm38) V2638M probably damaging Het
Otogl A T 10: 107,874,530 (GRCm38) I566N probably damaging Het
Pcyt1a T C 16: 32,470,186 (GRCm38) S282P probably damaging Het
Prkcg G A 7: 3,329,119 (GRCm38) E581K probably damaging Het
Ralgps2 A G 1: 156,887,089 (GRCm38) probably null Het
Rnf157 A G 11: 116,354,810 (GRCm38) probably benign Het
Scmh1 T C 4: 120,529,865 (GRCm38) probably benign Het
Sgo2b T C 8: 63,938,383 (GRCm38) H150R possibly damaging Het
Sh2b3 T G 5: 121,829,037 (GRCm38) T5P probably damaging Het
Skint6 A T 4: 112,991,236 (GRCm38) probably benign Het
Slfn10-ps T C 11: 83,035,302 (GRCm38) noncoding transcript Het
Sspo T A 6: 48,494,194 (GRCm38) probably benign Het
Tcp1 T A 17: 12,922,747 (GRCm38) probably benign Het
Tdp2 A G 13: 24,838,239 (GRCm38) M214V probably damaging Het
Tenm4 T G 7: 96,729,340 (GRCm38) probably benign Het
Tmem144 G A 3: 79,839,273 (GRCm38) probably benign Het
Tmem204 A G 17: 25,058,350 (GRCm38) I187T probably damaging Het
Tmem208 T G 8: 105,334,694 (GRCm38) D117E probably benign Het
Tnks1bp1 C T 2: 85,059,221 (GRCm38) P631S possibly damaging Het
Tomm70a T C 16: 57,147,821 (GRCm38) V517A probably damaging Het
Ttc7 T C 17: 87,379,895 (GRCm38) V801A probably damaging Het
Txndc5 A T 13: 38,507,953 (GRCm38) C146S probably damaging Het
Ubac2 A G 14: 122,008,917 (GRCm38) probably benign Het
Ube4b G T 4: 149,360,324 (GRCm38) T493K probably damaging Het
Ufl1 A T 4: 25,256,008 (GRCm38) Y504N probably benign Het
Ugt1a6a T C 1: 88,139,270 (GRCm38) V266A possibly damaging Het
Ugt1a6b T A 1: 88,107,467 (GRCm38) C176S probably damaging Het
Ulk3 T A 9: 57,590,686 (GRCm38) I90N probably damaging Het
Unc13c T C 9: 73,694,892 (GRCm38) I1357M probably benign Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Vmn2r114 A G 17: 23,309,826 (GRCm38) probably null Het
Vmn2r91 A C 17: 18,106,137 (GRCm38) N228T probably benign Het
Wdr43 T G 17: 71,631,997 (GRCm38) probably benign Het
Wisp1 T C 15: 66,919,210 (GRCm38) L287P probably damaging Het
Zbtb6 G T 2: 37,429,588 (GRCm38) Y109* probably null Het
Zfp980 A G 4: 145,701,997 (GRCm38) D432G probably benign Het
Other mutations in Bahcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bahcc1 APN 11 120,272,304 (GRCm38) missense probably damaging 1.00
IGL00536:Bahcc1 APN 11 120,285,045 (GRCm38) missense probably damaging 0.96
IGL01339:Bahcc1 APN 11 120,289,512 (GRCm38) missense probably damaging 1.00
IGL01695:Bahcc1 APN 11 120,276,609 (GRCm38) missense probably benign 0.02
IGL01744:Bahcc1 APN 11 120,271,737 (GRCm38) missense probably benign 0.02
IGL01769:Bahcc1 APN 11 120,280,204 (GRCm38) splice site probably benign
IGL01982:Bahcc1 APN 11 120,287,473 (GRCm38) missense probably damaging 1.00
IGL02341:Bahcc1 APN 11 120,272,520 (GRCm38) missense probably damaging 1.00
IGL02535:Bahcc1 APN 11 120,287,536 (GRCm38) missense possibly damaging 0.88
IGL02559:Bahcc1 APN 11 120,285,172 (GRCm38) missense probably damaging 0.97
IGL02579:Bahcc1 APN 11 120,285,349 (GRCm38) splice site probably benign
IGL02609:Bahcc1 APN 11 120,289,398 (GRCm38) missense possibly damaging 0.93
IGL02678:Bahcc1 APN 11 120,272,871 (GRCm38) missense probably damaging 1.00
IGL02800:Bahcc1 APN 11 120,272,934 (GRCm38) missense probably damaging 1.00
IGL02963:Bahcc1 APN 11 120,274,932 (GRCm38) missense possibly damaging 0.86
IGL03128:Bahcc1 APN 11 120,268,434 (GRCm38) splice site probably benign
IGL03242:Bahcc1 APN 11 120,268,300 (GRCm38) splice site probably benign
IGL03248:Bahcc1 APN 11 120,268,409 (GRCm38) missense probably damaging 1.00
Dimensionality UTSW 11 120,273,009 (GRCm38) missense probably damaging 1.00
G1citation:Bahcc1 UTSW 11 120,287,721 (GRCm38) missense probably damaging 1.00
R0019:Bahcc1 UTSW 11 120,289,771 (GRCm38) missense probably damaging 1.00
R0040:Bahcc1 UTSW 11 120,268,370 (GRCm38) missense probably damaging 1.00
R0040:Bahcc1 UTSW 11 120,268,370 (GRCm38) missense probably damaging 1.00
R0148:Bahcc1 UTSW 11 120,268,404 (GRCm38) missense probably damaging 1.00
R0321:Bahcc1 UTSW 11 120,273,425 (GRCm38) critical splice donor site probably null
R0671:Bahcc1 UTSW 11 120,287,320 (GRCm38) missense probably damaging 1.00
R0737:Bahcc1 UTSW 11 120,272,841 (GRCm38) missense probably damaging 1.00
R1452:Bahcc1 UTSW 11 120,282,239 (GRCm38) splice site probably benign
R1570:Bahcc1 UTSW 11 120,272,183 (GRCm38) missense possibly damaging 0.74
R1914:Bahcc1 UTSW 11 120,285,399 (GRCm38) missense probably damaging 1.00
R2010:Bahcc1 UTSW 11 120,272,778 (GRCm38) missense probably damaging 1.00
R2075:Bahcc1 UTSW 11 120,271,689 (GRCm38) missense probably damaging 1.00
R2085:Bahcc1 UTSW 11 120,288,082 (GRCm38) missense probably damaging 1.00
R3552:Bahcc1 UTSW 11 120,276,772 (GRCm38) missense possibly damaging 0.90
R3711:Bahcc1 UTSW 11 120,275,097 (GRCm38) missense probably benign 0.27
R3804:Bahcc1 UTSW 11 120,283,358 (GRCm38) missense probably benign 0.01
R4349:Bahcc1 UTSW 11 120,259,201 (GRCm38) missense probably damaging 1.00
R4557:Bahcc1 UTSW 11 120,275,088 (GRCm38) missense probably damaging 1.00
R4801:Bahcc1 UTSW 11 120,282,225 (GRCm38) missense probably benign 0.00
R4802:Bahcc1 UTSW 11 120,282,225 (GRCm38) missense probably benign 0.00
R4908:Bahcc1 UTSW 11 120,287,754 (GRCm38) missense probably benign 0.36
R4941:Bahcc1 UTSW 11 120,286,665 (GRCm38) missense probably benign
R5217:Bahcc1 UTSW 11 120,274,459 (GRCm38) nonsense probably null
R5241:Bahcc1 UTSW 11 120,271,403 (GRCm38) missense probably damaging 1.00
R5432:Bahcc1 UTSW 11 120,287,988 (GRCm38) missense probably benign 0.02
R5696:Bahcc1 UTSW 11 120,273,987 (GRCm38) missense probably damaging 1.00
R5724:Bahcc1 UTSW 11 120,285,366 (GRCm38) missense possibly damaging 0.78
R5725:Bahcc1 UTSW 11 120,274,888 (GRCm38) missense probably benign
R5788:Bahcc1 UTSW 11 120,286,352 (GRCm38) missense probably damaging 1.00
R5893:Bahcc1 UTSW 11 120,285,430 (GRCm38) missense probably damaging 0.99
R5900:Bahcc1 UTSW 11 120,284,493 (GRCm38) missense probably damaging 1.00
R6014:Bahcc1 UTSW 11 120,289,789 (GRCm38) missense probably benign 0.00
R6058:Bahcc1 UTSW 11 120,287,385 (GRCm38) missense probably damaging 1.00
R6107:Bahcc1 UTSW 11 120,272,888 (GRCm38) missense probably benign 0.00
R6302:Bahcc1 UTSW 11 120,276,808 (GRCm38) missense probably damaging 1.00
R6525:Bahcc1 UTSW 11 120,285,222 (GRCm38) missense probably damaging 1.00
R6550:Bahcc1 UTSW 11 120,276,651 (GRCm38) missense possibly damaging 0.94
R6822:Bahcc1 UTSW 11 120,287,721 (GRCm38) missense probably damaging 1.00
R6836:Bahcc1 UTSW 11 120,271,757 (GRCm38) nonsense probably null
R6846:Bahcc1 UTSW 11 120,271,596 (GRCm38) missense possibly damaging 0.92
R6916:Bahcc1 UTSW 11 120,273,009 (GRCm38) missense probably damaging 1.00
R6966:Bahcc1 UTSW 11 120,283,159 (GRCm38) missense probably damaging 0.99
R7097:Bahcc1 UTSW 11 120,272,646 (GRCm38) missense possibly damaging 0.87
R7289:Bahcc1 UTSW 11 120,280,174 (GRCm38) missense probably benign 0.08
R7441:Bahcc1 UTSW 11 120,286,306 (GRCm38) missense probably damaging 0.99
R7520:Bahcc1 UTSW 11 120,276,205 (GRCm38) missense possibly damaging 0.47
R7556:Bahcc1 UTSW 11 120,287,763 (GRCm38) missense probably damaging 1.00
R7672:Bahcc1 UTSW 11 120,283,346 (GRCm38) missense possibly damaging 0.63
R7791:Bahcc1 UTSW 11 120,268,377 (GRCm38) missense probably damaging 1.00
R7794:Bahcc1 UTSW 11 120,272,681 (GRCm38) nonsense probably null
R7802:Bahcc1 UTSW 11 120,274,692 (GRCm38) missense probably benign 0.03
R7946:Bahcc1 UTSW 11 120,272,499 (GRCm38) missense probably benign
R7985:Bahcc1 UTSW 11 120,272,891 (GRCm38) missense probably damaging 0.97
R8128:Bahcc1 UTSW 11 120,272,390 (GRCm38) nonsense probably null
R8131:Bahcc1 UTSW 11 120,272,838 (GRCm38) missense probably benign 0.01
R8353:Bahcc1 UTSW 11 120,274,425 (GRCm38) missense probably damaging 1.00
R8439:Bahcc1 UTSW 11 120,274,589 (GRCm38) missense probably benign 0.01
R8710:Bahcc1 UTSW 11 120,284,127 (GRCm38) missense probably damaging 1.00
R8799:Bahcc1 UTSW 11 120,286,347 (GRCm38) missense probably damaging 1.00
R8810:Bahcc1 UTSW 11 120,273,761 (GRCm38) missense possibly damaging 0.76
R8920:Bahcc1 UTSW 11 120,284,505 (GRCm38) missense probably damaging 1.00
R8924:Bahcc1 UTSW 11 120,276,765 (GRCm38) missense probably benign 0.09
R9014:Bahcc1 UTSW 11 120,282,222 (GRCm38) missense probably benign
R9014:Bahcc1 UTSW 11 120,272,889 (GRCm38) missense probably benign 0.00
R9195:Bahcc1 UTSW 11 120,276,511 (GRCm38) missense probably benign
R9216:Bahcc1 UTSW 11 120,286,688 (GRCm38) missense probably damaging 1.00
R9328:Bahcc1 UTSW 11 120,275,059 (GRCm38) missense possibly damaging 0.61
R9392:Bahcc1 UTSW 11 120,272,687 (GRCm38) nonsense probably null
R9562:Bahcc1 UTSW 11 120,259,209 (GRCm38) missense possibly damaging 0.87
R9680:Bahcc1 UTSW 11 120,272,460 (GRCm38) missense possibly damaging 0.92
R9797:Bahcc1 UTSW 11 120,268,321 (GRCm38) nonsense probably null
X0026:Bahcc1 UTSW 11 120,271,752 (GRCm38) missense probably benign 0.20
Z1176:Bahcc1 UTSW 11 120,284,394 (GRCm38) missense probably benign 0.00
Z1176:Bahcc1 UTSW 11 120,276,609 (GRCm38) missense possibly damaging 0.89
Z1177:Bahcc1 UTSW 11 120,272,921 (GRCm38) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CAGCAGAGACACCCTTTTCAGTCC -3'
(R):5'- TACAGCAGGCTGTCCTCCTTCG -3'

Sequencing Primer
(F):5'- CTTCTTGACCAGCGGAAGAATG -3'
(R):5'- TCCTCCTTCGGGATCAGGAC -3'
Posted On 2013-04-16