Incidental Mutation 'IGL01988:Kif1c'
ID |
182001 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif1c
|
Ensembl Gene |
ENSMUSG00000020821 |
Gene Name |
kinesin family member 1C |
Synonyms |
N-3 kinsin, B430105J22Rik, D11Bwg1349e, Orch3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01988
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70595762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000073625]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000108541]
[ENSMUST00000108542]
[ENSMUST00000108543]
[ENSMUST00000152618]
[ENSMUST00000137119]
[ENSMUST00000126114]
|
AlphaFold |
O35071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072048 Gene: ENSMUSG00000020821 AA Change: D156G
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
673 |
N/A |
INTRINSIC |
coiled coil region
|
842 |
883 |
N/A |
INTRINSIC |
low complexity region
|
955 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1009 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073625
|
SMART Domains |
Protein: ENSMUSP00000073311 Gene: ENSMUSG00000057054
Domain | Start | End | E-Value | Type |
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094499
AA Change: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092075 Gene: ENSMUSG00000020821 AA Change: D156G
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102554
AA Change: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099614 Gene: ENSMUSG00000020821 AA Change: D156G
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108541
|
SMART Domains |
Protein: ENSMUSP00000104181 Gene: ENSMUSG00000057054
Domain | Start | End | E-Value | Type |
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108542
|
SMART Domains |
Protein: ENSMUSP00000104182 Gene: ENSMUSG00000057054
Domain | Start | End | E-Value | Type |
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108543
|
SMART Domains |
Protein: ENSMUSP00000104183 Gene: ENSMUSG00000057054
Domain | Start | End | E-Value | Type |
Pfam:INCA1
|
1 |
152 |
1.5e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152618
AA Change: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136258 Gene: ENSMUSG00000020821 AA Change: D156G
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137119
AA Change: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123242 Gene: ENSMUSG00000020821 AA Change: D156G
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126114
|
SMART Domains |
Protein: ENSMUSP00000118761 Gene: ENSMUSG00000057054
Domain | Start | End | E-Value | Type |
Pfam:INCA1
|
12 |
187 |
8.4e-91 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014] PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,101,107 (GRCm39) |
S493R |
probably benign |
Het |
Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
Adam26a |
G |
A |
8: 44,022,207 (GRCm39) |
P428S |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,032,813 (GRCm39) |
|
probably benign |
Het |
Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
probably null |
Het |
|
Other mutations in Kif1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00775:Kif1c
|
APN |
11 |
70,614,960 (GRCm39) |
splice site |
probably null |
|
IGL00817:Kif1c
|
APN |
11 |
70,596,079 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00849:Kif1c
|
APN |
11 |
70,596,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Kif1c
|
APN |
11 |
70,617,278 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03024:Kif1c
|
APN |
11 |
70,596,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R0570:Kif1c
|
UTSW |
11 |
70,595,291 (GRCm39) |
missense |
probably damaging |
0.96 |
R0647:Kif1c
|
UTSW |
11 |
70,616,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R0710:Kif1c
|
UTSW |
11 |
70,617,323 (GRCm39) |
missense |
probably benign |
|
R1112:Kif1c
|
UTSW |
11 |
70,615,641 (GRCm39) |
splice site |
probably null |
|
R1199:Kif1c
|
UTSW |
11 |
70,599,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1514:Kif1c
|
UTSW |
11 |
70,596,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1661:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1666:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1669:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1707:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1708:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1835:Kif1c
|
UTSW |
11 |
70,599,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R1861:Kif1c
|
UTSW |
11 |
70,594,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2870:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2872:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2872:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2927:Kif1c
|
UTSW |
11 |
70,617,140 (GRCm39) |
missense |
probably benign |
|
R3720:Kif1c
|
UTSW |
11 |
70,594,597 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4809:Kif1c
|
UTSW |
11 |
70,617,183 (GRCm39) |
missense |
probably benign |
0.10 |
R4914:Kif1c
|
UTSW |
11 |
70,599,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R5642:Kif1c
|
UTSW |
11 |
70,599,273 (GRCm39) |
missense |
probably benign |
0.14 |
R5788:Kif1c
|
UTSW |
11 |
70,599,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Kif1c
|
UTSW |
11 |
70,594,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Kif1c
|
UTSW |
11 |
70,597,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7456:Kif1c
|
UTSW |
11 |
70,619,424 (GRCm39) |
missense |
probably benign |
0.00 |
R7857:Kif1c
|
UTSW |
11 |
70,619,103 (GRCm39) |
missense |
probably benign |
|
R8841:Kif1c
|
UTSW |
11 |
70,615,659 (GRCm39) |
missense |
probably benign |
0.02 |
R9004:Kif1c
|
UTSW |
11 |
70,615,958 (GRCm39) |
missense |
probably benign |
0.30 |
R9117:Kif1c
|
UTSW |
11 |
70,595,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Kif1c
|
UTSW |
11 |
70,615,660 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:Kif1c
|
UTSW |
11 |
70,593,719 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1187:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1188:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1189:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1190:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1191:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1192:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
|
Posted On |
2014-05-07 |