Incidental Mutation 'IGL01916:Kif26a'
ID179952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif26a
Ensembl Gene ENSMUSG00000021294
Gene Namekinesin family member 26A
SynonymsN-11 kinesin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.548) question?
Stock #IGL01916
Quality Score
Status
Chromosome12
Chromosomal Location112146208-112181747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 112176894 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 1194 (P1194L)
Ref Sequence ENSEMBL: ENSMUSP00000119482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128402]
Predicted Effect possibly damaging
Transcript: ENSMUST00000128402
AA Change: P1194L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: P1194L

DomainStartEndE-ValueType
low complexity region 238 248 N/A INTRINSIC
low complexity region 279 297 N/A INTRINSIC
KISc 362 726 9.57e-35 SMART
low complexity region 727 739 N/A INTRINSIC
low complexity region 740 754 N/A INTRINSIC
low complexity region 932 957 N/A INTRINSIC
low complexity region 1005 1012 N/A INTRINSIC
low complexity region 1044 1054 N/A INTRINSIC
low complexity region 1084 1095 N/A INTRINSIC
low complexity region 1328 1360 N/A INTRINSIC
low complexity region 1458 1471 N/A INTRINSIC
low complexity region 1477 1493 N/A INTRINSIC
low complexity region 1519 1538 N/A INTRINSIC
low complexity region 1574 1587 N/A INTRINSIC
low complexity region 1664 1675 N/A INTRINSIC
low complexity region 1699 1713 N/A INTRINSIC
coiled coil region 1780 1812 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183816
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,111 T187A probably damaging Het
A430005L14Rik C A 4: 153,961,540 F214L possibly damaging Het
A830018L16Rik C A 1: 11,748,107 probably benign Het
Adgrd1 T C 5: 129,132,838 S342P probably benign Het
Aldh4a1 A G 4: 139,644,146 Y457C probably damaging Het
Ankrd7 A T 6: 18,868,251 E124V possibly damaging Het
Atad5 T A 11: 80,112,839 probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Card14 T C 11: 119,343,145 Y854H probably benign Het
Ccdc85c T C 12: 108,207,844 H355R probably damaging Het
Ccr3 T A 9: 124,029,552 V308D probably damaging Het
Cep170 T C 1: 176,739,910 probably benign Het
Cmtr2 C A 8: 110,221,948 Q297K probably benign Het
Col19a1 A C 1: 24,534,241 L150R unknown Het
Cwf19l2 T C 9: 3,477,869 I858T possibly damaging Het
Cyp39a1 C T 17: 43,731,050 P383S probably damaging Het
Ddi2 C T 4: 141,695,398 probably benign Het
Dnah17 T G 11: 118,125,288 I342L probably benign Het
Efhc1 T C 1: 20,978,749 I462T probably damaging Het
Ephx4 A T 5: 107,406,030 probably null Het
Fam193b A G 13: 55,550,218 probably benign Het
Fbn1 T C 2: 125,315,446 N2306D possibly damaging Het
Folr1 A T 7: 101,858,740 H164Q probably benign Het
Fut10 T C 8: 31,235,706 V163A probably benign Het
Gal3st4 G A 5: 138,270,935 R83C probably damaging Het
Galnt16 T C 12: 80,592,490 probably null Het
Gata5 G A 2: 180,326,941 S380F possibly damaging Het
Gm1966 T G 7: 106,601,826 H737P probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4787 A T 12: 81,377,444 L647M probably benign Het
Hcfc2 A G 10: 82,734,383 K523E possibly damaging Het
Igkv6-15 A T 6: 70,406,474 Y114* probably null Het
Il10ra A T 9: 45,256,146 L369Q probably damaging Het
Il6st A G 13: 112,480,072 K51R possibly damaging Het
Kntc1 T G 5: 123,801,913 L1590R probably damaging Het
Lipo1 G T 19: 33,784,782 A105E probably damaging Het
Macf1 T A 4: 123,441,630 S4382C probably damaging Het
Macf1 C T 4: 123,476,037 E79K probably damaging Het
Nmnat2 T C 1: 153,094,046 I195T probably damaging Het
Olfr741 A G 14: 50,485,493 T12A probably benign Het
Pcdhb13 A G 18: 37,443,861 T431A possibly damaging Het
Pcgf3 G A 5: 108,486,179 G101D probably benign Het
Phip T C 9: 82,890,469 D1070G possibly damaging Het
Ren1 A G 1: 133,358,412 H231R probably benign Het
Sox9 C A 11: 112,784,674 Q230K probably benign Het
Stard9 T A 2: 120,668,016 Y154N probably damaging Het
Thnsl1 A T 2: 21,212,665 N410I possibly damaging Het
Tnfrsf21 A T 17: 43,039,803 E286V probably benign Het
Trbv13-1 A G 6: 41,116,312 R60G probably damaging Het
Ttc30a1 C A 2: 75,980,879 V287L probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wrn T A 8: 33,257,224 I1110F possibly damaging Het
Zfp777 G T 6: 48,025,342 R649S probably damaging Het
Zmym6 T A 4: 127,123,756 I1110N probably damaging Het
Other mutations in Kif26a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Kif26a APN 12 112157632 missense probably damaging 0.97
IGL01734:Kif26a APN 12 112176828 missense probably benign 0.23
IGL02080:Kif26a APN 12 112157566 missense probably damaging 1.00
IGL02138:Kif26a APN 12 112174850 missense probably damaging 1.00
IGL02145:Kif26a APN 12 112176975 missense probably benign 0.00
IGL02285:Kif26a APN 12 112157507 missense probably damaging 1.00
IGL02393:Kif26a APN 12 112172664 missense probably damaging 1.00
IGL02445:Kif26a APN 12 112173743 missense probably damaging 1.00
IGL02865:Kif26a APN 12 112177615 nonsense probably null
IGL03057:Kif26a APN 12 112175774 nonsense probably null
IGL03204:Kif26a APN 12 112174779 missense probably damaging 1.00
R0013:Kif26a UTSW 12 112177880 missense probably benign 0.03
R0034:Kif26a UTSW 12 112168963 splice site probably benign
R0089:Kif26a UTSW 12 112177403 missense probably damaging 0.98
R0111:Kif26a UTSW 12 112163337 splice site probably benign
R0220:Kif26a UTSW 12 112157390 missense probably damaging 0.98
R0346:Kif26a UTSW 12 112179348 missense probably null 0.09
R0383:Kif26a UTSW 12 112178076 missense possibly damaging 0.94
R0478:Kif26a UTSW 12 112175789 missense probably damaging 1.00
R0494:Kif26a UTSW 12 112179471 splice site probably null
R1163:Kif26a UTSW 12 112179945 missense probably benign 0.08
R1450:Kif26a UTSW 12 112173852 missense probably damaging 1.00
R1512:Kif26a UTSW 12 112146955 missense possibly damaging 0.47
R1616:Kif26a UTSW 12 112157246 critical splice acceptor site probably null
R1723:Kif26a UTSW 12 112173858 missense possibly damaging 0.67
R1728:Kif26a UTSW 12 112176785 missense possibly damaging 0.95
R1729:Kif26a UTSW 12 112176785 missense possibly damaging 0.95
R1903:Kif26a UTSW 12 112175540 missense probably damaging 1.00
R2283:Kif26a UTSW 12 112177353 missense possibly damaging 0.66
R3862:Kif26a UTSW 12 112179889 missense probably benign 0.30
R3906:Kif26a UTSW 12 112176890 missense probably benign
R4050:Kif26a UTSW 12 112179916 missense probably benign 0.08
R4270:Kif26a UTSW 12 112173414 missense probably damaging 1.00
R4271:Kif26a UTSW 12 112173414 missense probably damaging 1.00
R4731:Kif26a UTSW 12 112175573 missense probably benign
R4732:Kif26a UTSW 12 112175573 missense probably benign
R4733:Kif26a UTSW 12 112175573 missense probably benign
R4908:Kif26a UTSW 12 112157342 missense probably damaging 1.00
R4946:Kif26a UTSW 12 112177794 missense probably damaging 0.99
R5566:Kif26a UTSW 12 112157354 missense probably damaging 1.00
R6280:Kif26a UTSW 12 112174869 missense probably damaging 0.99
R6422:Kif26a UTSW 12 112168875 missense possibly damaging 0.95
R6513:Kif26a UTSW 12 112175492 missense probably damaging 0.97
R6860:Kif26a UTSW 12 112146829 missense probably damaging 1.00
R6879:Kif26a UTSW 12 112177653 missense probably benign
R7127:Kif26a UTSW 12 112178145 missense probably damaging 1.00
R7366:Kif26a UTSW 12 112163542 critical splice donor site probably null
R7595:Kif26a UTSW 12 112179325 missense probably benign 0.30
R7630:Kif26a UTSW 12 112175697 missense probably damaging 1.00
X0027:Kif26a UTSW 12 112176070 missense probably benign 0.26
Posted On2014-05-07