Incidental Mutation 'R6663:Kifc1'
ID |
526893 |
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 |
044783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6663 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34094640-34109607 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 34100430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114361]
[ENSMUST00000173386]
[ENSMUST00000173492]
|
AlphaFold |
Q9QWT9 |
Predicted Effect |
silent
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
|
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 |
silent
Transcript: ENSMUST00000173492
|
SMART Domains |
Protein: ENSMUSP00000134572 Gene: ENSMUSG00000079553
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 |
unknown
Transcript: ENSMUST00000173982
AA Change: S59P
|
SMART Domains |
Protein: ENSMUSP00000133520 Gene: ENSMUSG00000079553 AA Change: S59P
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
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 |
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 |
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 |
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'- CATGATGGAGATGCTGCAGTG -3'
(R):5'- TTTTAAAAGGAAGGACTGTAGGACTAC -3'
Sequencing Primer
(F):5'- GTGTATTGAATACTCAGGCCCCAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2018-07-23 |