Incidental Mutation 'R8841:Kif1c'
| ID |
674435 |
| 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 |
068732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8841 (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 70615659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 588
(V588I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072187
AA Change: V588I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: V588I
| 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: V588I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: V588I
| 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: V588I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: V588I
| 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: V588I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: V588I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,143,925 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
C |
T |
16: 93,701,908 (GRCm39) |
T510I |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,554,487 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,393,580 (GRCm39) |
Q11R |
probably benign |
Het |
| Dmrta1 |
A |
C |
4: 89,579,950 (GRCm39) |
R303S |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,264,768 (GRCm39) |
I543T |
possibly damaging |
Het |
| Fbxw2 |
G |
A |
2: 34,712,844 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,992,181 (GRCm39) |
V505A |
unknown |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,972 (GRCm39) |
V773A |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,794,426 (GRCm39) |
E298G |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,653,555 (GRCm39) |
P77T |
probably damaging |
Het |
| Gpam |
C |
A |
19: 55,066,950 (GRCm39) |
D522Y |
probably damaging |
Het |
| Hpgd |
T |
A |
8: 56,760,709 (GRCm39) |
N135K |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,550,789 (GRCm39) |
R437W |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 122,523,380 (GRCm39) |
E554V |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,754,970 (GRCm39) |
D82G |
probably benign |
Het |
| Lin7a |
A |
G |
10: 107,218,524 (GRCm39) |
R145G |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,391,920 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,628,188 (GRCm39) |
V178A |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,037 (GRCm39) |
R647G |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,201,203 (GRCm39) |
E153G |
probably damaging |
Het |
| Mefv |
C |
T |
16: 3,528,842 (GRCm39) |
C563Y |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,097,490 (GRCm39) |
N1792S |
probably benign |
Het |
| Nkx6-3 |
C |
T |
8: 23,646,274 (GRCm39) |
T148M |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,707,911 (GRCm39) |
S573T |
probably benign |
Het |
| Ntrk3 |
G |
T |
7: 78,005,841 (GRCm39) |
R507S |
probably damaging |
Het |
| Or2v2 |
A |
C |
11: 49,003,938 (GRCm39) |
I205S |
probably benign |
Het |
| Or4k15 |
T |
A |
14: 50,364,666 (GRCm39) |
F211I |
probably damaging |
Het |
| Or52e5 |
T |
A |
7: 104,719,479 (GRCm39) |
N268K |
possibly damaging |
Het |
| Or6c200-ps1 |
A |
G |
10: 128,870,042 (GRCm39) |
V223A |
probably benign |
Het |
| Or7e168 |
A |
T |
9: 19,719,885 (GRCm39) |
R90S |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,905,879 (GRCm39) |
M284T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,699 (GRCm39) |
I126V |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,092,884 (GRCm39) |
|
probably null |
Het |
| Pign |
T |
C |
1: 105,485,634 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,316,655 (GRCm39) |
L342P |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,476,407 (GRCm39) |
A49V |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Ralgps1 |
A |
C |
2: 33,045,329 (GRCm39) |
F406L |
probably benign |
Het |
| Rexo5 |
G |
A |
7: 119,448,011 (GRCm39) |
S752N |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,537 (GRCm39) |
I483L |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,156,466 (GRCm39) |
D481V |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,320,208 (GRCm39) |
I554T |
probably damaging |
Het |
| Shc2 |
A |
G |
10: 79,458,150 (GRCm39) |
V511A |
probably damaging |
Het |
| Slc18a2 |
C |
T |
19: 59,261,713 (GRCm39) |
S200F |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,845 (GRCm39) |
D208G |
probably damaging |
Het |
| Smok3c |
C |
A |
5: 138,063,537 (GRCm39) |
D341E |
probably damaging |
Het |
| Tfcp2 |
A |
G |
15: 100,410,989 (GRCm39) |
I373T |
probably damaging |
Het |
| Tnpo3 |
T |
A |
6: 29,589,182 (GRCm39) |
D56V |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,465,993 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,033,804 (GRCm39) |
C612R |
probably damaging |
Het |
| Ush1g |
G |
T |
11: 115,210,007 (GRCm39) |
D62E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,299 (GRCm39) |
N331S |
|
Het |
| Vmn2r4 |
T |
C |
3: 64,314,058 (GRCm39) |
I308V |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,184,702 (GRCm39) |
V400E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,235,916 (GRCm39) |
D1129G |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,206,971 (GRCm39) |
Q1101K |
probably damaging |
Het |
| Wfdc17 |
G |
T |
11: 83,594,938 (GRCm39) |
L7F |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,835,413 (GRCm39) |
K636R |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,454,936 (GRCm39) |
T1367S |
unknown |
Het |
| Zfp691 |
A |
T |
4: 119,027,861 (GRCm39) |
S124T |
probably 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 |
|
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 |
|
|
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'- TCCTCACCTGGATAAGCAGG -3'
(R):5'- ATACTAGGCTCCCAGAGGTTG -3'
Sequencing Primer
(F):5'- GTGCTCCTGGATCAGTGAGAG -3'
(R):5'- CCAGAGGTTGGTGGGACC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation