Incidental Mutation 'R7289:Kifbp'
ID 566248
Institutional Source Beutler Lab
Gene Symbol Kifbp
Ensembl Gene ENSMUSG00000036955
Gene Name kinesin family binding protein
Synonyms 2510003E04Rik, Kif1bp
MMRRC Submission 045396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7289 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62394249-62414846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 62401895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 261 (C261W)
Ref Sequence ENSEMBL: ENSMUSP00000065160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525] [ENSMUST00000162648] [ENSMUST00000162759]
AlphaFold Q6ZPU9
Predicted Effect probably damaging
Transcript: ENSMUST00000065887
AA Change: C261W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: C261W

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 damaging
Transcript: ENSMUST00000159704
AA Change: C261W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: C261W

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 damaging
Transcript: ENSMUST00000162525
AA Change: C261W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: C261W

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 damaging
Transcript: ENSMUST00000162648
AA Change: C2W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect
SMART Domains Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955
AA Change: C69W

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Aebp1 A G 11: 5,815,059 (GRCm39) D234G probably damaging Het
Agap1 T A 1: 89,383,153 (GRCm39) M1K probably null Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam120a A T 13: 49,045,482 (GRCm39) C785S probably damaging Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sez6 T A 11: 77,865,149 (GRCm39) I632N possibly damaging Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Spata31g1 A T 4: 42,972,379 (GRCm39) T571S probably benign Het
Spata31g1 A T 4: 42,973,252 (GRCm39) I862F possibly damaging Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F 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
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
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'- TCTGGGGTAGCTTTTCTTTTAACAGAT -3'

Sequencing Primer
(F):5'- TGTCACTGGAACCCTTAGGAC -3'
(R):5'- GATAATACTGTTCTCCACCACAACTC -3'
Posted On 2019-06-26