Incidental Mutation 'R4281:B9d2'
ID 322893
Institutional Source Beutler Lab
Gene Symbol B9d2
Ensembl Gene ENSMUSG00000063439
Gene Name B9 protein domain 2
Synonyms stumpy
MMRRC Submission 041649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4281 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25380205-25385983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25380851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 14 (T14A)
Ref Sequence ENSEMBL: ENSMUSP00000145729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108403] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]
AlphaFold Q3UK10
Predicted Effect probably benign
Transcript: ENSMUST00000108403
AA Change: T14A

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104040
Gene: ENSMUSG00000063439
AA Change: T14A

DomainStartEndE-ValueType
Pfam:B9-C2 4 164 5.1e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205325
AA Change: T14A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000205658
AA Change: T14A

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000206913
AA Change: T14A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 92% (44/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cavin3 A C 7: 105,130,981 (GRCm39) probably null Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnaaf11 A T 15: 66,252,378 (GRCm39) H429Q probably benign Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Evc2 T C 5: 37,495,938 (GRCm39) V16A probably benign Het
Fam210b T C 2: 172,193,468 (GRCm39) Y94H probably damaging Het
Gimap8 A C 6: 48,635,754 (GRCm39) R506S probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Gsn A G 2: 35,188,883 (GRCm39) Y434C probably damaging Het
Gtf2a1l A G 17: 89,019,065 (GRCm39) N383S possibly damaging Het
Hepacam2 G A 6: 3,475,938 (GRCm39) T329I probably damaging Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Mark4 T C 7: 19,167,371 (GRCm39) K456R probably benign Het
Nox4 A G 7: 86,946,732 (GRCm39) I143V possibly damaging Het
Or11h7 T C 14: 50,891,029 (GRCm39) C112R probably benign Het
Or12j3 A G 7: 139,953,385 (GRCm39) I46T probably benign Het
Pcdh18 A G 3: 49,710,982 (GRCm39) L111P possibly damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Pnpla6 T C 8: 3,571,513 (GRCm39) L148P probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Prkdc A G 16: 15,623,963 (GRCm39) probably null Het
Rars1 T C 11: 35,712,051 (GRCm39) E275G probably damaging Het
Rasa3 A G 8: 13,638,946 (GRCm39) V287A probably benign Het
Rimbp2 C T 5: 128,865,404 (GRCm39) R641Q possibly damaging Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tmem132a C G 19: 10,839,090 (GRCm39) E451Q possibly damaging Het
Tmem229b-ps A G 10: 53,351,474 (GRCm39) noncoding transcript Het
Trim33 T A 3: 103,236,402 (GRCm39) V504D probably damaging Het
Usp47 A T 7: 111,709,200 (GRCm39) E1315D probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp612 A G 8: 110,816,691 (GRCm39) I594V probably damaging Het
Zfp692 T C 11: 58,205,091 (GRCm39) F447L probably damaging Het
Zranb3 A C 1: 127,891,614 (GRCm39) S787R possibly damaging Het
Other mutations in B9d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03118:B9d2 APN 7 25,380,901 (GRCm39) critical splice donor site probably null
R0607:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R5179:B9d2 UTSW 7 25,380,826 (GRCm39) missense probably damaging 1.00
R5575:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R5908:B9d2 UTSW 7 25,382,724 (GRCm39) missense probably damaging 1.00
R6921:B9d2 UTSW 7 25,385,442 (GRCm39) missense probably damaging 1.00
R7560:B9d2 UTSW 7 25,380,784 (GRCm39) intron probably benign
R9051:B9d2 UTSW 7 25,385,462 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AAGGCCACATTGTCAGTGGG -3'
(R):5'- CCCCATATGCTTAGGGGCTATG -3'

Sequencing Primer
(F):5'- GTTGGTGGAACTAGCTTAGAATCAC -3'
(R):5'- CTATGTTTTCCGATGGTGAGATAAC -3'
Posted On 2015-06-20