Incidental Mutation 'R6918:Kif1c'
| ID |
539454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif1c
|
| Ensembl Gene |
ENSMUSG00000020821 |
| Gene Name |
kinesin family member 1C |
| Synonyms |
N-3 kinsin, B430105J22Rik, D11Bwg1349e, Orch3 |
| MMRRC Submission |
045005-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70597813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 356
(E356K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
[ENSMUST00000152618]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: E356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: E356K
| 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: E356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: E356K
| 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: E356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: E356K
| 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: E356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: E356K
| 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: E356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136258
Gene: ENSMUSG00000020821
AA Change: E356K
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
| Meta Mutation Damage Score |
0.4167 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
C |
17: 24,627,632 (GRCm39) |
K1359Q |
probably damaging |
Het |
| Ace |
T |
C |
11: 105,863,769 (GRCm39) |
Y406H |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,643 (GRCm39) |
Y1959N |
possibly damaging |
Het |
| Chrna7 |
T |
A |
7: 62,809,299 (GRCm39) |
I76F |
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,077,899 (GRCm39) |
T296I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,769,307 (GRCm39) |
V409A |
probably damaging |
Het |
| Dhx8 |
T |
A |
11: 101,629,247 (GRCm39) |
Y212* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,158,738 (GRCm39) |
K622* |
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,341,805 (GRCm39) |
H72R |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,885,350 (GRCm39) |
D396G |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,892,557 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,425 (GRCm39) |
Y189H |
probably damaging |
Het |
| Kirrel2 |
A |
C |
7: 30,150,239 (GRCm39) |
C17G |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,403,584 (GRCm39) |
H259R |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,612 (GRCm39) |
V184A |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,594 (GRCm39) |
N190Y |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,319,649 (GRCm39) |
V1958G |
probably damaging |
Het |
| Ly6h |
T |
C |
15: 75,437,507 (GRCm39) |
S37G |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,002,940 (GRCm39) |
H1056Q |
possibly damaging |
Het |
| Misp3 |
T |
G |
8: 84,738,313 (GRCm39) |
M1L |
probably benign |
Het |
| Mixl1 |
T |
A |
1: 180,522,243 (GRCm39) |
I213F |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,650,023 (GRCm39) |
I268T |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,706,697 (GRCm39) |
T224I |
probably damaging |
Het |
| Or8c15 |
G |
A |
9: 38,120,948 (GRCm39) |
V198M |
possibly damaging |
Het |
| Oscp1 |
A |
C |
4: 125,970,571 (GRCm39) |
D120A |
possibly damaging |
Het |
| Parp1 |
G |
A |
1: 180,416,235 (GRCm39) |
V545I |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,090,082 (GRCm39) |
Y790C |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,873 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
G |
A |
17: 53,822,487 (GRCm39) |
T193M |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,460,797 (GRCm39) |
H300Q |
probably damaging |
Het |
| Ror2 |
T |
G |
13: 53,265,487 (GRCm39) |
N523T |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,069,831 (GRCm39) |
D1355E |
unknown |
Het |
| Rsph4a |
T |
C |
10: 33,781,272 (GRCm39) |
Y41H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,513 (GRCm39) |
M1K |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,063,212 (GRCm39) |
L1155V |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,407,331 (GRCm39) |
K321E |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,926 (GRCm39) |
V211A |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,832,203 (GRCm39) |
C728S |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,750,383 (GRCm39) |
K203M |
probably damaging |
Het |
| Unc50 |
A |
T |
1: 37,477,783 (GRCm39) |
T222S |
probably damaging |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,878 (GRCm39) |
H332L |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,598,760 (GRCm39) |
T599I |
probably benign |
Het |
| Zfp334 |
A |
T |
2: 165,223,799 (GRCm39) |
D81E |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,788 (GRCm39) |
I322V |
possibly damaging |
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 |
|
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 |
|
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'- GGAACTCTGAGGCTGATCAGTC -3'
(R):5'- GTTTAATGGAGAGTGGACCTCC -3'
Sequencing Primer
(F):5'- CTCTGAGGCTGATCAGTCATAAG -3'
(R):5'- TCCACACACTCCAGGACTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation