Incidental Mutation 'IGL02127:Kif1bp'
ID280930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif1bp
Ensembl Gene ENSMUSG00000036955
Gene NameKIF1 binding protein
Synonyms2510003E04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02127
Quality Score
Status
Chromosome10
Chromosomal Location62538626-62578457 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 62578349 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 10 (R10H)
Ref Sequence ENSEMBL: ENSMUSP00000125162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045866] [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525]
Predicted Effect probably benign
Transcript: ENSMUST00000045866
SMART Domains Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
low complexity region 87 98 N/A INTRINSIC
low complexity region 107 139 N/A INTRINSIC
internal_repeat_1 140 160 2.96e-8 PROSPERO
low complexity region 162 171 N/A INTRINSIC
low complexity region 199 208 N/A INTRINSIC
internal_repeat_1 214 234 2.96e-8 PROSPERO
DEXDc 277 484 2.76e-56 SMART
HELICc 524 604 1.55e-27 SMART
low complexity region 682 688 N/A INTRINSIC
Pfam:GUCT 692 787 1.6e-33 PFAM
low complexity region 827 843 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065887
AA Change: R10H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: R10H

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: R10H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: R10H

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: ENSMUST00000159722
Predicted Effect probably benign
Transcript: ENSMUST00000162525
AA Change: R10H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: R10H

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 noncoding transcript
Transcript: ENSMUST00000199616
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,897,880 M661K probably benign Het
Arpin G A 7: 79,928,193 R163W probably benign Het
Atm C A 9: 53,487,983 D1573Y probably damaging Het
Avil A G 10: 127,011,826 N540S probably benign Het
Btnl6 T C 17: 34,514,043 Q282R probably benign Het
Cacna2d3 T C 14: 29,063,875 probably benign Het
Cd300ld4 T C 11: 115,022,719 N170S probably benign Het
Cgnl1 T A 9: 71,725,853 N72I probably damaging Het
Cntnap3 T C 13: 64,799,064 probably benign Het
Col27a1 A T 4: 63,225,142 T356S possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c69 G T 19: 39,851,057 T374N probably damaging Het
Cyp2d26 T C 15: 82,791,106 E349G probably benign Het
Dnah1 T C 14: 31,304,928 E713G probably benign Het
Dnah7b A T 1: 46,139,875 T903S probably benign Het
Enthd1 T C 15: 80,452,742 D497G probably damaging Het
Grk4 C T 5: 34,710,186 T165I probably benign Het
Hmcn1 G A 1: 150,722,607 S1648L probably benign Het
Ints11 A G 4: 155,886,863 Y278C probably damaging Het
Kcnu1 T C 8: 25,892,062 L480P probably damaging Het
Kif5c G A 2: 49,701,110 probably null Het
Klhl35 T C 7: 99,471,681 probably benign Het
Lemd3 A T 10: 120,926,028 D807E possibly damaging Het
Lrrc37a G A 11: 103,504,539 T20I probably benign Het
Mab21l1 C T 3: 55,783,595 A201V probably benign Het
Mab21l2 T C 3: 86,546,817 D292G possibly damaging Het
Map3k21 T C 8: 125,942,147 L824P probably benign Het
Myo5a T C 9: 75,212,981 V1687A probably benign Het
Myo5c G T 9: 75,300,902 W1639C probably damaging Het
Nfya G T 17: 48,393,255 probably benign Het
Olfr1249 A G 2: 89,630,754 I48T probably damaging Het
Papolg A G 11: 23,870,870 probably benign Het
Pcdh8 G A 14: 79,769,246 R626C probably damaging Het
Pclo T C 5: 14,765,145 probably benign Het
Pogz T C 3: 94,874,703 probably benign Het
Polg G A 7: 79,458,167 probably benign Het
Scn9a A T 2: 66,494,826 I1317K probably damaging Het
Scn9a A G 2: 66,547,135 V401A probably damaging Het
St7 T A 6: 17,844,969 probably benign Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Trmt1 T C 8: 84,697,471 V400A probably damaging Het
Trrap A G 5: 144,816,433 N1856S probably benign Het
Ube3a G A 7: 59,276,041 G210D probably benign Het
Ubqln5 A G 7: 104,129,482 V45A probably damaging Het
Wdpcp T A 11: 21,711,958 M410K possibly damaging Het
Xpa G A 4: 46,185,606 T124M probably damaging Het
Zpbp2 A G 11: 98,555,541 E172G probably damaging Het
Other mutations in Kif1bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Kif1bp APN 10 62559339 nonsense probably null
IGL03304:Kif1bp APN 10 62559303 missense probably damaging 1.00
IGL02980:Kif1bp UTSW 10 62559168 missense probably damaging 1.00
R0317:Kif1bp UTSW 10 62578082 unclassified probably null
R0408:Kif1bp UTSW 10 62566053 missense probably benign 0.37
R0462:Kif1bp UTSW 10 62559456 missense probably damaging 1.00
R1469:Kif1bp UTSW 10 62559450 missense probably damaging 0.96
R1469:Kif1bp UTSW 10 62559450 missense probably damaging 0.96
R1503:Kif1bp UTSW 10 62559408 missense probably damaging 0.98
R1830:Kif1bp UTSW 10 62559327 missense probably damaging 1.00
R3848:Kif1bp UTSW 10 62569470 missense probably damaging 1.00
R4486:Kif1bp UTSW 10 62563027 intron probably benign
R4488:Kif1bp UTSW 10 62563027 intron probably benign
R4489:Kif1bp UTSW 10 62563027 intron probably benign
R5137:Kif1bp UTSW 10 62578241 missense probably damaging 1.00
R5193:Kif1bp UTSW 10 62559396 missense possibly damaging 0.81
R5212:Kif1bp UTSW 10 62563129 intron probably benign
R5929:Kif1bp UTSW 10 62559402 missense probably damaging 1.00
R6179:Kif1bp UTSW 10 62563250 nonsense probably null
R6488:Kif1bp UTSW 10 62559658 intron probably null
R6513:Kif1bp UTSW 10 62575034 intron probably null
R6808:Kif1bp UTSW 10 62575144 missense possibly damaging 0.90
R6900:Kif1bp UTSW 10 62559129 missense probably damaging 1.00
R6916:Kif1bp UTSW 10 62566064 missense probably benign 0.05
R7092:Kif1bp UTSW 10 62578300 missense probably damaging 1.00
R7289:Kif1bp UTSW 10 62566116 missense probably damaging 1.00
R7376:Kif1bp UTSW 10 62559064 missense possibly damaging 0.89
Posted On2015-04-16