Incidental Mutation 'R9117:Kif1c'
| ID |
692609 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70595798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 168
(V168A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000073625]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000108541]
[ENSMUST00000108542]
[ENSMUST00000108543]
[ENSMUST00000126114]
[ENSMUST00000137119]
[ENSMUST00000152618]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: V168A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: V168A
| 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: V168A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: V168A
| 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: V168A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: V168A
| 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 benign
Transcript: ENSMUST00000126114
|
| SMART Domains |
Protein: ENSMUSP00000118761
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
12 |
187 |
8.4e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137119
AA Change: V168A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: V168A
| 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: V168A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136258
Gene: ENSMUSG00000020821
AA Change: V168A
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Agfg1 |
T |
G |
1: 82,872,216 (GRCm39) |
F516L |
possibly damaging |
Het |
| Akap5 |
T |
A |
12: 76,374,592 (GRCm39) |
M8K |
possibly damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,545 (GRCm39) |
V535I |
probably benign |
Het |
| Atg3 |
T |
C |
16: 45,006,564 (GRCm39) |
V277A |
probably damaging |
Het |
| Bloc1s6 |
C |
T |
2: 122,588,534 (GRCm39) |
P168L |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,086 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cfap210 |
G |
T |
2: 69,612,103 (GRCm39) |
S175* |
probably null |
Het |
| Clint1 |
A |
G |
11: 45,781,562 (GRCm39) |
T211A |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,176,662 (GRCm39) |
D873E |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,164 (GRCm39) |
L149P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,033,581 (GRCm39) |
|
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,848,356 (GRCm39) |
V8A |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,702,078 (GRCm39) |
K91N |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Ffar2 |
T |
C |
7: 30,518,616 (GRCm39) |
E308G |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,758 (GRCm39) |
K83E |
unknown |
Het |
| Git2 |
A |
G |
5: 114,887,621 (GRCm39) |
|
probably null |
Het |
| Gm10024 |
T |
C |
10: 77,547,339 (GRCm39) |
S17P |
unknown |
Het |
| Greb1l |
A |
T |
18: 10,542,422 (GRCm39) |
Y1339F |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Herc4 |
C |
A |
10: 63,126,300 (GRCm39) |
L551I |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,528 (GRCm39) |
T390S |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,877,279 (GRCm39) |
Y697* |
probably null |
Het |
| Lipn |
T |
C |
19: 34,046,041 (GRCm39) |
W5R |
probably damaging |
Het |
| Mavs |
G |
A |
2: 131,087,245 (GRCm39) |
A248T |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,392,773 (GRCm39) |
G390D |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,793,023 (GRCm39) |
H653R |
probably benign |
Het |
| Mrps9 |
T |
G |
1: 42,942,537 (GRCm39) |
S332A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,423,070 (GRCm39) |
C4498R |
possibly damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,800,451 (GRCm39) |
T1002M |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,520,100 (GRCm39) |
M2328L |
probably benign |
Het |
| Or5h18 |
T |
C |
16: 58,847,653 (GRCm39) |
I206V |
probably benign |
Het |
| Or8b52 |
T |
A |
9: 38,577,106 (GRCm39) |
E11D |
probably benign |
Het |
| Pawr |
T |
C |
10: 108,169,140 (GRCm39) |
S155P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,608,090 (GRCm39) |
V441F |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,624,905 (GRCm39) |
D1250G |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,742,853 (GRCm39) |
M430L |
possibly damaging |
Het |
| Raly |
T |
A |
2: 154,703,785 (GRCm39) |
S119T |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,109,412 (GRCm39) |
S128T |
probably benign |
Het |
| Sirt3 |
C |
T |
7: 140,449,362 (GRCm39) |
|
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,748,029 (GRCm39) |
F210L |
probably damaging |
Het |
| Speg |
G |
T |
1: 75,364,444 (GRCm39) |
S275I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,768,141 (GRCm39) |
D47N |
unknown |
Het |
| Stra6 |
T |
G |
9: 58,059,822 (GRCm39) |
S594R |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,614,517 (GRCm39) |
H295R |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,053,667 (GRCm39) |
Q7470R |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,666,126 (GRCm39) |
H259Q |
unknown |
Het |
| Toporsl |
A |
T |
4: 52,609,943 (GRCm39) |
|
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,537 (GRCm39) |
S130G |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,801,154 (GRCm39) |
V189A |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,058,918 (GRCm39) |
A206S |
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 |
|
|
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 |
|
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'- GCAGTTAACTTTGTCCTGTCTAG -3'
(R):5'- TGGGATCGCTGGGTAAAGAC -3'
Sequencing Primer
(F):5'- AACTTTGTCCTGTCTAGTAGAGC -3'
(R):5'- CCACGGTTCTGGAGTTGAAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation