Incidental Mutation 'IGL01944:B9d1'
ID181206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B9d1
Ensembl Gene ENSMUSG00000001039
Gene NameB9 protein domain 1
SynonymsB9, Eppb9
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.789) question?
Stock #IGL01944
Quality Score
Status
Chromosome11
Chromosomal Location61505144-61512931 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61512379 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 52 (M52L)
Ref Sequence ENSEMBL: ENSMUSP00000117524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001063] [ENSMUST00000102657] [ENSMUST00000108711] [ENSMUST00000108712] [ENSMUST00000108713] [ENSMUST00000127889] [ENSMUST00000178202] [ENSMUST00000179936]
Predicted Effect probably benign
Transcript: ENSMUST00000001063
SMART Domains Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 218 237 3.37e-1 SMART
UIM 255 274 2.48e1 SMART
low complexity region 449 461 N/A INTRINSIC
low complexity region 493 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102657
AA Change: M138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099717
Gene: ENSMUSG00000001039
AA Change: M138L

DomainStartEndE-ValueType
Pfam:B9-C2 11 174 3.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108711
SMART Domains Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 218 237 6.29e-1 SMART
UIM 243 262 2.48e1 SMART
low complexity region 431 443 N/A INTRINSIC
low complexity region 475 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108712
SMART Domains Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 275 294 6.29e-1 SMART
UIM 300 319 2.48e1 SMART
low complexity region 488 500 N/A INTRINSIC
low complexity region 532 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108713
SMART Domains Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 218 237 6.29e-1 SMART
UIM 243 262 2.48e1 SMART
low complexity region 437 449 N/A INTRINSIC
low complexity region 481 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127889
AA Change: M52L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117524
Gene: ENSMUSG00000001039
AA Change: M52L

DomainStartEndE-ValueType
Pfam:B9-C2 1 89 2.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155176
Predicted Effect probably benign
Transcript: ENSMUST00000178202
SMART Domains Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 218 237 3.37e-1 SMART
UIM 255 274 2.48e1 SMART
low complexity region 449 461 N/A INTRINSIC
low complexity region 493 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179936
SMART Domains Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
ENTH 18 144 1.03e-65 SMART
UIM 275 294 6.29e-1 SMART
UIM 300 319 2.48e1 SMART
low complexity region 494 506 N/A INTRINSIC
low complexity region 538 562 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,011,376 V202D probably damaging Het
Afdn A G 17: 13,810,481 N218S probably damaging Het
AI314180 G T 4: 58,861,544 T345K probably benign Het
Arhgef1 G A 7: 24,925,783 probably null Het
Atp1a2 G T 1: 172,276,187 T959K probably damaging Het
Atp6v0a2 A G 5: 124,636,105 E96G probably benign Het
Col6a6 T A 9: 105,783,909 I334F probably damaging Het
Drd3 T C 16: 43,818,308 F259L probably benign Het
Drosha T G 15: 12,889,719 L891R probably damaging Het
Fam71e2 T C 7: 4,770,695 N67S possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Greb1l T C 18: 10,557,280 V1760A possibly damaging Het
Il1f8 T A 2: 24,155,279 W48R probably damaging Het
Ipo9 C A 1: 135,405,886 V353F probably damaging Het
Kmt2a A T 9: 44,849,767 F126I probably damaging Het
Mmrn1 T C 6: 60,971,183 probably null Het
Nup214 T A 2: 32,034,959 C328* probably null Het
Olfr1013 A G 2: 85,770,040 I80V probably damaging Het
Pcdh17 G T 14: 84,447,520 V476L probably benign Het
Pcdh17 T A 14: 84,447,521 V476E probably damaging Het
Prpf38b A T 3: 108,904,675 S291R probably benign Het
Rap1gap T C 4: 137,725,620 S601P probably damaging Het
Rnf213 T C 11: 119,416,457 Y648H probably benign Het
Slfn3 A G 11: 83,213,148 T282A possibly damaging Het
Ttll3 C T 6: 113,414,115 T887I probably benign Het
Vmn1r197 A G 13: 22,328,338 N143S possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo4 T C 14: 57,604,398 I487V probably benign Het
Other mutations in B9d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:B9d1 APN 11 61512678 missense possibly damaging 0.77
IGL01878:B9d1 APN 11 61507623 unclassified probably benign
PIT4696001:B9d1 UTSW 11 61505243 missense possibly damaging 0.69
R0494:B9d1 UTSW 11 61512445 unclassified probably benign
R3793:B9d1 UTSW 11 61507622 unclassified probably benign
R4227:B9d1 UTSW 11 61512657 missense probably damaging 1.00
R4789:B9d1 UTSW 11 61506360 missense probably benign
R4828:B9d1 UTSW 11 61507635 missense probably damaging 1.00
R4911:B9d1 UTSW 11 61507671 missense probably benign 0.25
R6526:B9d1 UTSW 11 61509097 nonsense probably null
R7841:B9d1 UTSW 11 61506366 missense possibly damaging 0.90
R7924:B9d1 UTSW 11 61506366 missense possibly damaging 0.90
Posted On2014-05-07