Incidental Mutation 'R4486:Kifbp'
ID 331623
Institutional Source Beutler Lab
Gene Symbol Kifbp
Ensembl Gene ENSMUSG00000036955
Gene Name kinesin family binding protein
Synonyms 2510003E04Rik, Kif1bp
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4486 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adam22 A T 5: 8,230,227 (GRCm39) probably benign Het
Adamts18 G T 8: 114,439,825 (GRCm39) P923T probably benign Het
Ank3 C T 10: 69,837,804 (GRCm39) T1604I possibly damaging Het
Armc10 A G 5: 21,858,432 (GRCm39) Q159R probably damaging Het
Arnt2 T A 7: 83,924,553 (GRCm39) T425S probably benign Het
B4galt3 A G 1: 171,099,343 (GRCm39) T36A possibly damaging Het
Bbx A G 16: 50,020,777 (GRCm39) V799A probably damaging Het
Bud23 T C 5: 135,092,779 (GRCm39) probably null Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp4f39 T A 17: 32,702,428 (GRCm39) D308E probably damaging Het
Dnah6 A G 6: 73,015,729 (GRCm39) V3584A probably damaging Het
Ecpas A G 4: 58,820,086 (GRCm39) probably benign Het
Frk T C 10: 34,484,377 (GRCm39) I450T 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
Hyi G A 4: 118,219,674 (GRCm39) G237D probably damaging Het
Jrkl T C 9: 13,245,376 (GRCm39) N95S probably benign Het
Nanog T C 6: 122,689,676 (GRCm39) probably null Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Or6c76b T C 10: 129,692,567 (GRCm39) F60S probably damaging Het
Pcdha3 T C 18: 37,080,404 (GRCm39) V382A probably damaging Het
Pla2g4c T A 7: 13,071,676 (GRCm39) N165K probably benign Het
Rexo5 T C 7: 119,424,800 (GRCm39) I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rpusd2 T C 2: 118,865,705 (GRCm39) V134A probably damaging Het
Serpina1c T A 12: 103,863,259 (GRCm39) probably null Het
Slc6a19 A T 13: 73,829,836 (GRCm39) I606N probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Tas2r143 A G 6: 42,377,628 (GRCm39) M153V probably benign Het
Thrb G T 14: 17,925,640 (GRCm38) M1I probably null Het
Trbc2 A G 6: 41,523,814 (GRCm39) probably benign Het
Trim37 T A 11: 87,087,651 (GRCm39) S587R probably benign Het
Ulbp1 T A 10: 7,397,397 (GRCm39) H151L probably benign Het
Vmn2r54 A T 7: 12,366,199 (GRCm39) L245* probably null Het
Vmn2r78 A C 7: 86,569,959 (GRCm39) probably null Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Xrcc4 A C 13: 90,140,707 (GRCm39) S167R possibly damaging Het
Zfp994 C T 17: 22,420,541 (GRCm39) C136Y 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
R4488: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'- TCATCATCAGGCCCACTATGTG -3'

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