Incidental Mutation 'IGL01886:Kifc5b'
ID 179147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kifc5b
Ensembl Gene ENSMUSG00000024301
Gene Name kinesin family member C5B
Synonyms kinesin family c-terminal 5B
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01886
Quality Score
Status
Chromosome 17
Chromosomal Location 26917091-26932579 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26932117 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 663 (V663A)
Ref Sequence ENSEMBL: ENSMUSP00000077984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073724] [ENSMUST00000078961]
AlphaFold E9PUA5
Predicted Effect probably benign
Transcript: ENSMUST00000073724
SMART Domains Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193

DomainStartEndE-ValueType
TUDOR 29 86 5.61e-11 SMART
PHD 89 140 2.81e-8 SMART
PHD 188 238 2.42e0 SMART
low complexity region 410 416 N/A INTRINSIC
low complexity region 481 495 N/A INTRINSIC
Pfam:Mtf2_C 523 557 7.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078961
AA Change: V663A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301
AA Change: V663A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
low complexity region 108 117 N/A INTRINSIC
low complexity region 222 240 N/A INTRINSIC
KISc 307 670 1.34e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184739
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Kifc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Kifc5b APN 17 26,924,744 (GRCm38) missense possibly damaging 0.82
FR4449:Kifc5b UTSW 17 26,924,217 (GRCm38) missense probably benign
R0394:Kifc5b UTSW 17 26,923,082 (GRCm38) missense probably benign 0.37
R0800:Kifc5b UTSW 17 26,923,184 (GRCm38) missense probably benign 0.01
R0890:Kifc5b UTSW 17 26,923,022 (GRCm38) missense possibly damaging 0.67
R1122:Kifc5b UTSW 17 26,924,061 (GRCm38) missense probably benign 0.01
R1651:Kifc5b UTSW 17 26,925,530 (GRCm38) missense probably damaging 1.00
R1875:Kifc5b UTSW 17 26,917,290 (GRCm38) splice site probably null
R1955:Kifc5b UTSW 17 26,926,297 (GRCm38) critical splice donor site probably null
R2279:Kifc5b UTSW 17 26,925,541 (GRCm38) missense probably damaging 0.99
R4921:Kifc5b UTSW 17 26,921,023 (GRCm38) missense probably damaging 1.00
R4949:Kifc5b UTSW 17 26,925,514 (GRCm38) missense probably damaging 1.00
R5044:Kifc5b UTSW 17 26,924,787 (GRCm38) missense probably damaging 1.00
R6144:Kifc5b UTSW 17 26,921,852 (GRCm38) missense probably benign 0.01
R6393:Kifc5b UTSW 17 26,921,842 (GRCm38) missense probably benign 0.08
R6484:Kifc5b UTSW 17 26,924,772 (GRCm38) missense probably damaging 1.00
R7075:Kifc5b UTSW 17 26,925,898 (GRCm38) missense probably benign 0.30
R7385:Kifc5b UTSW 17 26,925,623 (GRCm38) missense probably damaging 1.00
R7743:Kifc5b UTSW 17 26,924,202 (GRCm38) missense probably damaging 1.00
R8710:Kifc5b UTSW 17 26,920,906 (GRCm38) missense probably damaging 0.98
R9661:Kifc5b UTSW 17 26,921,862 (GRCm38) critical splice donor site probably null
R9765:Kifc5b UTSW 17 26,923,265 (GRCm38) missense probably damaging 0.98
Posted On 2014-05-07