Incidental Mutation 'R1218:Kifc1'
ID |
99873 |
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 |
039287-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1218 (G1)
|
Quality Score |
135 |
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: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
Faap100 |
T |
C |
11: 120,269,166 (GRCm39) |
D91G |
probably benign |
Het |
Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
Flrt2 |
A |
G |
12: 95,745,727 (GRCm39) |
I22V |
probably benign |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
Mtrex |
G |
A |
13: 113,054,156 (GRCm39) |
A159V |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
Tbx5 |
C |
T |
5: 119,976,785 (GRCm39) |
L58F |
probably damaging |
Het |
Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
Zfp458 |
T |
C |
13: 67,404,273 (GRCm39) |
E722G |
probably damaging |
Het |
Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
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 |
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 |
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'- GGAAGCTCTCTCAGAGCAACACTAAG -3'
(R):5'- ACTCAAACGCTGGAACTGGAGAAC -3'
Sequencing Primer
(F):5'- TCTTCCCAAGTGCCTGAGAG -3'
(R):5'- ACTGGAGAACCGGGGTC -3'
|
Posted On |
2014-01-15 |