Incidental Mutation 'R2927:Kif1c'
ID |
255804 |
Institutional Source |
Beutler Lab
|
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 # |
R2927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70617140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 813
(C813S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
|
AlphaFold |
O35071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072187
AA Change: C825S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072048 Gene: ENSMUSG00000020821 AA Change: C825S
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: ENSMUST00000094499
AA Change: C813S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092075 Gene: ENSMUSG00000020821 AA Change: C813S
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: ENSMUST00000102554
AA Change: C813S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099614 Gene: ENSMUSG00000020821 AA Change: C813S
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: ENSMUST00000137119
AA Change: C813S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123242 Gene: ENSMUSG00000020821 AA Change: C813S
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATATGCTATGAGGTGGCCC -3'
(R):5'- TGCAGGATCCTAATAGGCGG -3'
Sequencing Primer
(F):5'- CTAGCCGACTTCCGCCAC -3'
(R):5'- TACCTGAGTCAGCGGGATG -3'
|
Posted On |
2014-12-29 |