Incidental Mutation 'IGL03024:Kif1c'
| ID |
408086 |
| 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 # |
IGL03024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70596015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 210
(M210L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
[ENSMUST00000152618]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: M210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: M210L
| 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 damaging
Transcript: ENSMUST00000094499
AA Change: M210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: M210L
| 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: M210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: M210L
| 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: ENSMUST00000137119
AA Change: M210L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: M210L
| 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: ENSMUST00000152618
AA Change: M210L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136258
Gene: ENSMUSG00000020821
AA Change: M210L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197857
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,212,464 (GRCm39) |
F257L |
probably benign |
Het |
| Aaas |
A |
G |
15: 102,258,926 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,513 (GRCm39) |
R57W |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,746,597 (GRCm39) |
V72A |
probably damaging |
Het |
| Bcl3 |
A |
G |
7: 19,543,059 (GRCm39) |
|
probably benign |
Het |
| Blnk |
A |
T |
19: 40,982,445 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,621,089 (GRCm39) |
I230T |
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,227,576 (GRCm39) |
R485S |
possibly damaging |
Het |
| Cenpp |
C |
A |
13: 49,617,730 (GRCm39) |
A273S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,868 (GRCm39) |
V2022A |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
C |
A |
2: 145,781,919 (GRCm39) |
|
probably benign |
Het |
| Col8a1 |
T |
A |
16: 57,448,727 (GRCm39) |
H261L |
unknown |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,527 (GRCm39) |
|
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,710,160 (GRCm39) |
L203Q |
probably damaging |
Het |
| Dusp6 |
A |
G |
10: 99,102,156 (GRCm39) |
T381A |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,686 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,581,523 (GRCm39) |
D192G |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,337,780 (GRCm39) |
V299F |
probably damaging |
Het |
| Gfpt1 |
G |
T |
6: 87,030,813 (GRCm39) |
V66F |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,422,390 (GRCm39) |
|
probably benign |
Het |
| Irf8 |
T |
A |
8: 121,480,097 (GRCm39) |
S112T |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,707 (GRCm39) |
N36K |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,498,193 (GRCm39) |
I866T |
probably benign |
Het |
| Kng1 |
G |
A |
16: 22,893,442 (GRCm39) |
V272I |
possibly damaging |
Het |
| Lrig2 |
A |
C |
3: 104,401,389 (GRCm39) |
M166R |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,029,931 (GRCm39) |
L265P |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,377 (GRCm39) |
T547A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,139,305 (GRCm39) |
C541R |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,862 (GRCm39) |
F15L |
possibly damaging |
Het |
| Nipal1 |
G |
T |
5: 72,820,968 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,810,893 (GRCm39) |
N645Y |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,676,858 (GRCm39) |
F107Y |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,935 (GRCm39) |
F197I |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,280 (GRCm39) |
M103K |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,734,946 (GRCm39) |
S96T |
probably damaging |
Het |
| Prl2c1 |
A |
C |
13: 28,040,524 (GRCm39) |
D139A |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,754,055 (GRCm39) |
M43K |
possibly damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,646,315 (GRCm39) |
M1048L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,521,427 (GRCm39) |
E653G |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,664,567 (GRCm39) |
S689P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,460,455 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,991,458 (GRCm39) |
I241T |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,706,189 (GRCm39) |
D380E |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,650,442 (GRCm39) |
V560A |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,003 (GRCm39) |
H154R |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,576,380 (GRCm39) |
C247* |
probably null |
Het |
| Trim15 |
A |
G |
17: 37,177,785 (GRCm39) |
L70P |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,354,358 (GRCm39) |
L148P |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,232,538 (GRCm39) |
P627S |
probably benign |
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 |
|
IGL01988:Kif1c
|
APN |
11 |
70,595,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Kif1c
|
APN |
11 |
70,617,278 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
2016-08-02 |
Incidental Mutation