Incidental Mutation 'R4488:Kifbp'
ID 330602
Institutional Source Beutler Lab
Gene Symbol Kifbp
Ensembl Gene ENSMUSG00000036955
Gene Name kinesin family binding protein
Synonyms 2510003E04Rik, Kif1bp
MMRRC Submission 041744-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4488 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62394249-62414846 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 62398806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525] [ENSMUST00000162648] [ENSMUST00000162759]
AlphaFold Q6ZPU9
Predicted Effect probably benign
Transcript: ENSMUST00000065887
SMART Domains Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955

DomainStartEndE-ValueType
low complexity region 39 84 N/A INTRINSIC
Blast:TPR 204 235 1e-5 BLAST
Pfam:KBP_C 243 610 6.6e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159704
SMART Domains Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955

DomainStartEndE-ValueType
low complexity region 39 84 N/A INTRINSIC
Blast:TPR 204 235 1e-5 BLAST
Pfam:KBP_C 242 383 2.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162263
Predicted Effect probably benign
Transcript: ENSMUST00000162525
SMART Domains Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955

DomainStartEndE-ValueType
low complexity region 39 84 N/A INTRINSIC
Blast:TPR 204 235 6e-6 BLAST
Pfam:KBP_C 242 293 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162648
Predicted Effect probably benign
Transcript: ENSMUST00000162759
SMART Domains Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955

DomainStartEndE-ValueType
low complexity region 39 84 N/A INTRINSIC
Blast:TPR 204 235 1e-5 BLAST
Pfam:KBP_C 242 329 4.8e-28 PFAM
transmembrane domain 340 362 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208223
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous KO mice die shortly after birth from respiratory failure. Knockout affects innervation of the digestive tract, and the development of the olfactory bulb and the anterior commissure in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 A T 1: 6,429,631 (GRCm39) Q26L probably benign Het
Bltp1 A T 3: 37,058,082 (GRCm39) Q3224L probably null Het
Brox A G 1: 183,062,514 (GRCm39) L280S probably benign Het
Cep41 A T 6: 30,655,688 (GRCm39) probably benign Het
Cryz C A 3: 154,324,094 (GRCm39) probably benign Het
Cyp26c1 T C 19: 37,681,658 (GRCm39) V487A probably benign Het
Dlx6 T C 6: 6,867,207 (GRCm39) M270T probably damaging Het
Glb1 T C 9: 114,272,182 (GRCm39) I273T probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hcrtr1 A G 4: 130,029,556 (GRCm39) V175A probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Mki67 G A 7: 135,299,400 (GRCm39) T1878I probably benign Het
Ncoa6 A G 2: 155,249,396 (GRCm39) F1303L possibly damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nutf2 T A 8: 106,603,059 (GRCm39) probably null Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Rbm45 T C 2: 76,206,740 (GRCm39) S251P probably damaging Het
Rnaset2b A G 17: 7,265,469 (GRCm39) Y155C probably damaging Het
Rnf122 A G 8: 31,618,283 (GRCm39) T92A probably damaging Het
Rnf220 A G 4: 117,347,011 (GRCm39) S134P probably damaging Het
Shprh A T 10: 11,036,215 (GRCm39) I351F probably benign Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Sulf1 G T 1: 12,856,739 (GRCm39) probably benign Het
Svil T C 18: 5,049,067 (GRCm39) Y202H probably damaging Het
Tek A G 4: 94,737,993 (GRCm39) D681G possibly damaging Het
Tra2a A G 6: 49,229,428 (GRCm39) probably benign Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r25 A T 6: 123,799,819 (GRCm39) I841N probably damaging Het
Zfp949 T C 9: 88,452,142 (GRCm39) S571P probably damaging Het
Zkscan16 A G 4: 58,957,431 (GRCm39) E571G possibly damaging Het
Zup1 G A 10: 33,824,960 (GRCm39) T174I probably damaging Het
Other mutations in Kifbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Kifbp APN 10 62,395,118 (GRCm39) nonsense probably null
IGL02127:Kifbp APN 10 62,414,128 (GRCm39) missense probably benign 0.00
IGL03304:Kifbp APN 10 62,395,082 (GRCm39) missense probably damaging 1.00
IGL02980:Kifbp UTSW 10 62,394,947 (GRCm39) missense probably damaging 1.00
R0317:Kifbp UTSW 10 62,413,861 (GRCm39) splice site probably null
R0408:Kifbp UTSW 10 62,401,832 (GRCm39) missense probably benign 0.37
R0462:Kifbp UTSW 10 62,395,235 (GRCm39) missense probably damaging 1.00
R1469:Kifbp UTSW 10 62,395,229 (GRCm39) missense probably damaging 0.96
R1469:Kifbp UTSW 10 62,395,229 (GRCm39) missense probably damaging 0.96
R1503:Kifbp UTSW 10 62,395,187 (GRCm39) missense probably damaging 0.98
R1830:Kifbp UTSW 10 62,395,106 (GRCm39) missense probably damaging 1.00
R3848:Kifbp UTSW 10 62,405,249 (GRCm39) missense probably damaging 1.00
R4486:Kifbp UTSW 10 62,398,806 (GRCm39) intron probably benign
R4489:Kifbp UTSW 10 62,398,806 (GRCm39) intron probably benign
R5137:Kifbp UTSW 10 62,414,020 (GRCm39) missense probably damaging 1.00
R5193:Kifbp UTSW 10 62,395,175 (GRCm39) missense possibly damaging 0.81
R5212:Kifbp UTSW 10 62,398,908 (GRCm39) intron probably benign
R5929:Kifbp UTSW 10 62,395,181 (GRCm39) missense probably damaging 1.00
R6179:Kifbp UTSW 10 62,399,029 (GRCm39) nonsense probably null
R6488:Kifbp UTSW 10 62,395,437 (GRCm39) splice site probably null
R6513:Kifbp UTSW 10 62,410,813 (GRCm39) splice site probably null
R6808:Kifbp UTSW 10 62,410,923 (GRCm39) missense possibly damaging 0.90
R6900:Kifbp UTSW 10 62,394,908 (GRCm39) missense probably damaging 1.00
R6916:Kifbp UTSW 10 62,401,843 (GRCm39) missense probably benign 0.05
R7092:Kifbp UTSW 10 62,414,079 (GRCm39) missense probably damaging 1.00
R7289:Kifbp UTSW 10 62,401,895 (GRCm39) missense probably damaging 1.00
R7376:Kifbp UTSW 10 62,394,843 (GRCm39) missense possibly damaging 0.89
R7672:Kifbp UTSW 10 62,413,852 (GRCm39) missense probably benign 0.00
R8134:Kifbp UTSW 10 62,413,756 (GRCm39) missense probably benign
R8809:Kifbp UTSW 10 62,395,491 (GRCm39) missense possibly damaging 0.80
R8899:Kifbp UTSW 10 62,399,282 (GRCm39) intron probably benign
R9094:Kifbp UTSW 10 62,395,037 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CGGCTTAGACTACAGAGAGAC -3'
(R):5'- CATCATCAGGCCCACTATGTG -3'

Sequencing Primer
(F):5'- TCCATCAGGAAAGTGCCAG -3'
(R):5'- ATCAGGCCCACTATGTGTTTTG -3'
Posted On 2015-07-21