Incidental Mutation 'R6643:Kifc1'
| ID |
525961 |
| 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 |
044764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34094640-34109607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34104829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 59
(G59S)
|
| 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: G59S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
AA Change: G59S
| 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: G102S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: G102S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
| Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
| Cntrob |
A |
G |
11: 69,202,248 (GRCm39) |
V448A |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,607 (GRCm39) |
H62L |
probably damaging |
Het |
| Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,561 (GRCm39) |
S698G |
possibly damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,043,542 (GRCm39) |
E360G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
| Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
| Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
| Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
| Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
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 |
|
|
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'- AACAAACAGACTCAAGGGCT -3'
(R):5'- TGGACAGACACTGTAAGGACA -3'
Sequencing Primer
(F):5'- CAGACTCAAGGGCTGTGTTTCC -3'
(R):5'- AGCCACTAAATGCTTGCTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation