Incidental Mutation 'R6916:Kifbp'
ID 539361
Institutional Source Beutler Lab
Gene Symbol Kifbp
Ensembl Gene ENSMUSG00000036955
Gene Name kinesin family binding protein
Synonyms 2510003E04Rik, Kif1bp
MMRRC Submission 045037-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6916 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62394249-62414846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62401843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 20 (T20A)
Ref Sequence ENSEMBL: ENSMUSP00000125070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525] [ENSMUST00000162648] [ENSMUST00000162759]
AlphaFold Q6ZPU9
Predicted Effect probably benign
Transcript: ENSMUST00000065887
AA Change: T279A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: T279A

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
AA Change: T279A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: T279A

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 probably benign
Transcript: ENSMUST00000162525
AA Change: T279A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: T279A

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
AA Change: T20A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000162759
AA Change: T87A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955
AA Change: T87A

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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,211,318 (GRCm39) I684K possibly damaging Het
Abcg3 T A 5: 105,122,601 (GRCm39) R97S probably benign Het
Acin1 A T 14: 54,902,873 (GRCm39) F160L probably benign Het
Aoc1l2 T A 6: 48,907,987 (GRCm39) I329N probably benign Het
Asb10 T C 5: 24,742,854 (GRCm39) D293G probably damaging Het
Atp6v1c1 T C 15: 38,677,825 (GRCm39) S117P probably benign Het
Bahcc1 T A 11: 120,163,835 (GRCm39) V711E probably damaging Het
Baz2b A T 2: 59,799,120 (GRCm39) S335T probably benign Het
Bdkrb2 C T 12: 105,558,038 (GRCm39) A93V probably damaging Het
Cacna1d A T 14: 29,817,321 (GRCm39) V1247D probably damaging Het
Cenpb A C 2: 131,021,544 (GRCm39) F85V probably benign Het
Cep112 C A 11: 108,750,202 (GRCm39) Q142K probably damaging Het
Ciita T A 16: 10,327,071 (GRCm39) probably null Het
Cnr1 A G 4: 33,943,897 (GRCm39) D95G probably benign Het
Ctnnd1 A T 2: 84,439,990 (GRCm39) D767E probably benign Het
Ddx20 T C 3: 105,587,929 (GRCm39) N384D probably damaging Het
Dnaaf3 T A 7: 4,530,532 (GRCm39) D191V probably damaging Het
Efna1 T C 3: 89,183,695 (GRCm39) N44D possibly damaging Het
Errfi1 A T 4: 150,951,930 (GRCm39) K453* probably null Het
Fam149a C A 8: 45,803,443 (GRCm39) K349N probably damaging Het
Fbxl20 T A 11: 98,004,079 (GRCm39) I70L possibly damaging Het
Flnb C T 14: 7,907,171 (GRCm38) T1248I probably damaging Het
Frem2 T C 3: 53,455,109 (GRCm39) R2156G probably damaging Het
Ftl1 T C 7: 45,108,964 (GRCm39) Y31C probably damaging Het
Gm5862 G T 5: 26,224,346 (GRCm39) H208N probably benign Het
Hc A T 2: 34,900,044 (GRCm39) Y1096* probably null Het
Hps1 ATCCTCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 19: 42,755,164 (GRCm39) Het
Ints3 T C 3: 90,313,641 (GRCm39) D329G probably damaging Het
Irak3 A T 10: 120,037,270 (GRCm39) L32Q probably damaging Het
Klrb1f A T 6: 129,030,774 (GRCm39) D95V probably benign Het
Krt79 C T 15: 101,844,605 (GRCm39) D260N probably benign Het
Lrp11 C A 10: 7,484,478 (GRCm39) probably null Het
Lrrc10 C A 10: 116,881,454 (GRCm39) R43S possibly damaging Het
Muc5b A T 7: 141,418,454 (GRCm39) Y3800F possibly damaging Het
Myh14 T C 7: 44,278,737 (GRCm39) K1003E probably damaging Het
Nbeal2 A G 9: 110,455,176 (GRCm39) I2567T probably damaging Het
Necab2 G T 8: 120,194,355 (GRCm39) R277L probably damaging Het
Nell1 T C 7: 50,350,927 (GRCm39) Y525H probably benign Het
Olfm4 T A 14: 80,251,638 (GRCm39) M186K probably damaging Het
Or10d1c T C 9: 38,894,200 (GRCm39) I47V probably benign Het
Or1e29 T A 11: 73,667,895 (GRCm39) Q86L probably benign Het
Or2h2b-ps1 T C 17: 37,480,864 (GRCm39) K225R probably benign Het
Pcdhb11 A T 18: 37,555,434 (GRCm39) S255C possibly damaging Het
Rrbp1 A T 2: 143,816,518 (GRCm39) C704S probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sh2d3c C T 2: 32,642,665 (GRCm39) R552* probably null Het
Sh3d19 A G 3: 85,992,218 (GRCm39) E82G probably benign Het
Son T A 16: 91,451,673 (GRCm39) L140Q probably damaging Het
Svil G A 18: 5,114,682 (GRCm39) probably benign Het
Syne1 T C 10: 5,177,912 (GRCm39) K4854R probably benign Het
Tlcd4 T C 3: 121,000,805 (GRCm39) D276G possibly damaging Het
Tmem202 C A 9: 59,432,757 (GRCm39) probably benign Het
Trak2 T C 1: 58,949,184 (GRCm39) T539A probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Ugt2b37 T A 5: 87,402,459 (GRCm39) R57S probably benign Het
Usp34 G A 11: 23,408,023 (GRCm39) R2616Q probably damaging Het
Usp48 T C 4: 137,365,544 (GRCm39) Y113H probably damaging Het
Vtcn1 G T 3: 100,795,479 (GRCm39) probably null Het
Wdr19 G A 5: 65,382,677 (GRCm39) R467Q possibly damaging Het
Wdr72 A G 9: 74,062,321 (GRCm39) Y489C probably benign Het
Wipf1 C A 2: 73,267,748 (GRCm39) G217W 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
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
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'- ACAAAGTTTCAGAATTCCAGATATGT -3'
(R):5'- ACTGTTCTCCACCACAACTCTAC -3'

Sequencing Primer
(F):5'- GTTTTTAACCTGTAGTAACTTGTGTG -3'
(R):5'- CTACAAGACCCCTTTAGTGGG -3'
Posted On 2018-11-06