Incidental Mutation 'R1219:Kifc1'
| ID |
99963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifc1
|
| Ensembl Gene |
ENSMUSG00000079553 |
| Gene Name |
kinesin family member C1 |
| Synonyms |
Tctex7a, Tctex7, HSET, kinesin family c-terminal 5A, Tctex-7, KNSL2, Knsl2a, Tctex-7A, Gm4137, Kifc5a |
| MMRRC Submission |
039288-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1219 (G1)
|
| Quality Score |
133 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34094640-34109607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34103685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 195
(R195C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114361]
[ENSMUST00000173386]
[ENSMUST00000173492]
|
| AlphaFold |
Q9QWT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114361
|
| SMART Domains |
Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
Blast:KISc
|
82 |
155 |
2e-12 |
BLAST |
|
low complexity region
|
156 |
179 |
N/A |
INTRINSIC |
|
KISc
|
246 |
609 |
1.77e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173386
AA Change: R195C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133758
Gene: ENSMUSG00000079553
AA Change: R195C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KISc
|
67 |
204 |
4e-31 |
BLAST |
|
low complexity region
|
206 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173492
AA Change: R213C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: R213C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
242 |
N/A |
INTRINSIC |
|
KISc
|
309 |
672 |
1.77e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173982
|
| SMART Domains |
Protein: ENSMUSP00000133520
Gene: ENSMUSG00000079553
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KISc
|
2 |
44 |
8e-22 |
BLAST |
|
PDB:2REP|A
|
2 |
51 |
6e-20 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185129
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
| Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
| Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
| Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
| Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
| Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
| Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
| Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
| Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
possibly damaging |
Het |
|
| Other mutations in Kifc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02707:Kifc1
|
APN |
17 |
34,100,467 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Kifc1
|
UTSW |
17 |
34,105,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0607:Kifc1
|
UTSW |
17 |
34,105,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1019:Kifc1
|
UTSW |
17 |
34,103,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1218:Kifc1
|
UTSW |
17 |
34,103,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1222:Kifc1
|
UTSW |
17 |
34,103,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1374:Kifc1
|
UTSW |
17 |
34,102,849 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1523:Kifc1
|
UTSW |
17 |
34,102,636 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1818:Kifc1
|
UTSW |
17 |
34,103,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1958:Kifc1
|
UTSW |
17 |
34,103,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1960:Kifc1
|
UTSW |
17 |
34,103,561 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5439:Kifc1
|
UTSW |
17 |
34,105,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Kifc1
|
UTSW |
17 |
34,102,059 (GRCm39) |
splice site |
probably benign |
|
|
R6643:Kifc1
|
UTSW |
17 |
34,104,829 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6663:Kifc1
|
UTSW |
17 |
34,100,430 (GRCm39) |
unclassified |
probably benign |
|
|
R6724:Kifc1
|
UTSW |
17 |
34,105,707 (GRCm39) |
splice site |
probably null |
|
|
R7033:Kifc1
|
UTSW |
17 |
34,102,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Kifc1
|
UTSW |
17 |
34,102,846 (GRCm39) |
missense |
probably benign |
|
|
R7515:Kifc1
|
UTSW |
17 |
34,103,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Kifc1
|
UTSW |
17 |
34,102,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Kifc1
|
UTSW |
17 |
34,103,714 (GRCm39) |
missense |
probably benign |
|
|
R7947:Kifc1
|
UTSW |
17 |
34,102,849 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8024:Kifc1
|
UTSW |
17 |
34,102,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Kifc1
|
UTSW |
17 |
34,102,228 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9259:Kifc1
|
UTSW |
17 |
34,101,165 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGGAAGCTCTCTCAGAGCAACAC -3'
(R):5'- ACTCAAACGCTGGAACTGGAGAAC -3'
Sequencing Primer
(F):5'- TCTTCCCAAGTGCCTGAGAG -3'
(R):5'- ACTGGAGAACCGGGGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation