Incidental Mutation 'IGL02675:Kifc2'
ID303069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kifc2
Ensembl Gene ENSMUSG00000004187
Gene Namekinesin family member C2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02675
Quality Score
Status
Chromosome15
Chromosomal Location76659858-76668196 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 76662979 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 252 (R252W)
Ref Sequence ENSEMBL: ENSMUSP00000155536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000177359] [ENSMUST00000230451] [ENSMUST00000230964] [ENSMUST00000231152]
Predicted Effect probably damaging
Transcript: ENSMUST00000004294
AA Change: R337W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: R337W

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 36 45 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
coiled coil region 195 235 N/A INTRINSIC
coiled coil region 274 345 N/A INTRINSIC
KISc 407 740 3.21e-141 SMART
low complexity region 745 781 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066677
SMART Domains Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081291
SMART Domains Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
SCOP:d1jm7a_ 21 88 3e-5 SMART
Blast:RING 27 62 8e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177359
SMART Domains Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230124
Predicted Effect probably damaging
Transcript: ENSMUST00000230451
AA Change: R252W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230719
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Predicted Effect probably benign
Transcript: ENSMUST00000231152
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Kifc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Kifc2 APN 15 76667462 utr 3 prime probably benign
IGL01341:Kifc2 APN 15 76662898 critical splice donor site probably null
IGL02161:Kifc2 APN 15 76666045 missense probably damaging 1.00
IGL02997:Kifc2 APN 15 76664339 missense possibly damaging 0.83
R0034:Kifc2 UTSW 15 76667100 missense probably benign 0.18
R1818:Kifc2 UTSW 15 76666081 missense probably damaging 1.00
R1961:Kifc2 UTSW 15 76662825 missense probably damaging 1.00
R2104:Kifc2 UTSW 15 76661254 missense probably damaging 0.99
R2149:Kifc2 UTSW 15 76662221 missense probably benign 0.00
R3086:Kifc2 UTSW 15 76667252 missense probably benign 0.01
R4704:Kifc2 UTSW 15 76662977 unclassified probably null
R4782:Kifc2 UTSW 15 76664348 missense possibly damaging 0.89
R4834:Kifc2 UTSW 15 76661311 start codon destroyed probably null 0.48
R5085:Kifc2 UTSW 15 76661296 missense probably damaging 1.00
R5160:Kifc2 UTSW 15 76662977 missense probably damaging 1.00
R5253:Kifc2 UTSW 15 76666281 missense possibly damaging 0.94
R5543:Kifc2 UTSW 15 76667042 missense probably damaging 0.99
R5786:Kifc2 UTSW 15 76664378 missense probably damaging 1.00
R5805:Kifc2 UTSW 15 76662153 missense probably benign 0.00
R7290:Kifc2 UTSW 15 76660704 missense probably damaging 1.00
R7311:Kifc2 UTSW 15 76662810 missense probably damaging 1.00
R7511:Kifc2 UTSW 15 76661337 missense possibly damaging 0.50
R7782:Kifc2 UTSW 15 76664128 missense probably benign 0.00
Z1177:Kifc2 UTSW 15 76661288 missense possibly damaging 0.95
Posted On2015-04-16