Incidental Mutation 'IGL01793:Kif6'
| ID |
155260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif6
|
| Ensembl Gene |
ENSMUSG00000023999 |
| Gene Name |
kinesin family member 6 |
| Synonyms |
D130084M03Rik, D130004B10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL01793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
49922164-50216875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49931521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 73
(I73N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162029]
[ENSMUST00000162854]
|
| AlphaFold |
E9PX57 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000024798
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162029
AA Change: I73N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125227
Gene: ENSMUSG00000023999
AA Change: I73N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KISc
|
3 |
83 |
8e-51 |
BLAST |
|
SCOP:d1f9va_
|
6 |
81 |
3e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162854
AA Change: I73N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124674
Gene: ENSMUSG00000023999
AA Change: I73N
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
353 |
1.67e-121 |
SMART |
|
coiled coil region
|
358 |
385 |
N/A |
INTRINSIC |
|
Blast:KISc
|
400 |
606 |
1e-85 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
| Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
| Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
| Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
| Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
| Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
Het |
|
| Other mutations in Kif6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02098:Kif6
|
APN |
17 |
50,177,922 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02259:Kif6
|
APN |
17 |
50,202,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL03003:Kif6
|
APN |
17 |
50,060,899 (GRCm39) |
nonsense |
probably null |
|
|
PIT4280001:Kif6
|
UTSW |
17 |
50,062,148 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0044:Kif6
|
UTSW |
17 |
50,139,284 (GRCm39) |
splice site |
probably benign |
|
|
R1180:Kif6
|
UTSW |
17 |
50,139,284 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Kif6
|
UTSW |
17 |
49,927,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Kif6
|
UTSW |
17 |
50,021,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1760:Kif6
|
UTSW |
17 |
49,922,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1770:Kif6
|
UTSW |
17 |
50,210,677 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1809:Kif6
|
UTSW |
17 |
50,208,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Kif6
|
UTSW |
17 |
50,208,799 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2176:Kif6
|
UTSW |
17 |
50,062,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Kif6
|
UTSW |
17 |
50,065,671 (GRCm39) |
splice site |
probably benign |
|
|
R4620:Kif6
|
UTSW |
17 |
50,208,324 (GRCm39) |
missense |
probably benign |
|
|
R4661:Kif6
|
UTSW |
17 |
50,060,909 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4972:Kif6
|
UTSW |
17 |
50,014,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Kif6
|
UTSW |
17 |
50,139,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Kif6
|
UTSW |
17 |
50,022,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6364:Kif6
|
UTSW |
17 |
49,927,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Kif6
|
UTSW |
17 |
49,978,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Kif6
|
UTSW |
17 |
50,139,214 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7966:Kif6
|
UTSW |
17 |
49,993,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8246:Kif6
|
UTSW |
17 |
50,065,542 (GRCm39) |
nonsense |
probably null |
|
|
R8487:Kif6
|
UTSW |
17 |
49,978,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Kif6
|
UTSW |
17 |
50,139,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Kif6
|
UTSW |
17 |
50,022,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation