Incidental Mutation 'R1374:Kifc1'
| ID |
157457 |
| 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 |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34094640-34109607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34102849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 192
(R192G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114361]
[ENSMUST00000173386]
[ENSMUST00000173492]
|
| AlphaFold |
Q9QWT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114361
AA Change: R192G
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
AA Change: R192G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133758
Gene: ENSMUSG00000079553
| 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: R255G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: R255G
| 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
|
| Meta Mutation Damage Score |
0.0882 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably 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 |
|
R1219: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 |
|
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'- CAGAACACCCGGATATTGCCCTTC -3'
(R):5'- ACTCCTCGTAGTGCTGGGACTTTG -3'
Sequencing Primer
(F):5'- GGATATTGCCCTTCAGTTCCTG -3'
(R):5'- atctccccacctctgatcc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation