Incidental Mutation 'IGL00486:Kif28'
| ID |
332202 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif28
|
| Ensembl Gene |
ENSMUSG00000087236 |
| Gene Name |
kinesin family member 28 |
| Synonyms |
LOC383592, Gm1305 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
179522862-179572836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 179530081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 693
(L693F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131716]
[ENSMUST00000211943]
[ENSMUST00000221136]
[ENSMUST00000223392]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131716
AA Change: L693F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: L693F
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
331 |
1.02e-120 |
SMART |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
FHA
|
424 |
473 |
1.12e-3 |
SMART |
|
Pfam:KIF1B
|
615 |
654 |
1.3e-7 |
PFAM |
|
low complexity region
|
842 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211943
AA Change: L625F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221136
AA Change: L693F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223392
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kif28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00581:Kif28
|
APN |
1 |
179,567,522 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0348:Kif28
|
UTSW |
1 |
179,558,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Kif28
|
UTSW |
1 |
179,567,654 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0412:Kif28
|
UTSW |
1 |
179,530,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0788:Kif28
|
UTSW |
1 |
179,532,788 (GRCm39) |
unclassified |
probably benign |
|
|
R0960:Kif28
|
UTSW |
1 |
179,523,370 (GRCm39) |
nonsense |
probably null |
|
|
R1365:Kif28
|
UTSW |
1 |
179,567,552 (GRCm39) |
nonsense |
probably null |
|
|
R1420:Kif28
|
UTSW |
1 |
179,529,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Kif28
|
UTSW |
1 |
179,532,697 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1507:Kif28
|
UTSW |
1 |
179,563,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Kif28
|
UTSW |
1 |
179,533,319 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1819:Kif28
|
UTSW |
1 |
179,533,319 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1903:Kif28
|
UTSW |
1 |
179,530,088 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2221:Kif28
|
UTSW |
1 |
179,560,676 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2358:Kif28
|
UTSW |
1 |
179,537,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Kif28
|
UTSW |
1 |
179,530,085 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4943:Kif28
|
UTSW |
1 |
179,541,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4967:Kif28
|
UTSW |
1 |
179,536,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Kif28
|
UTSW |
1 |
179,526,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Kif28
|
UTSW |
1 |
179,530,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Kif28
|
UTSW |
1 |
179,527,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Kif28
|
UTSW |
1 |
179,525,336 (GRCm39) |
splice site |
probably null |
|
|
R5999:Kif28
|
UTSW |
1 |
179,523,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Kif28
|
UTSW |
1 |
179,527,018 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6180:Kif28
|
UTSW |
1 |
179,525,337 (GRCm39) |
splice site |
probably null |
|
|
R6875:Kif28
|
UTSW |
1 |
179,563,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7400:Kif28
|
UTSW |
1 |
179,527,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Kif28
|
UTSW |
1 |
179,567,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7530:Kif28
|
UTSW |
1 |
179,536,045 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7589:Kif28
|
UTSW |
1 |
179,558,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7648:Kif28
|
UTSW |
1 |
179,536,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7815:Kif28
|
UTSW |
1 |
179,563,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Kif28
|
UTSW |
1 |
179,526,629 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8050:Kif28
|
UTSW |
1 |
179,537,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Kif28
|
UTSW |
1 |
179,527,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Kif28
|
UTSW |
1 |
179,525,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Kif28
|
UTSW |
1 |
179,544,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9011:Kif28
|
UTSW |
1 |
179,529,984 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9161:Kif28
|
UTSW |
1 |
179,526,244 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9164:Kif28
|
UTSW |
1 |
179,533,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Kif28
|
UTSW |
1 |
179,563,695 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Kif28
|
UTSW |
1 |
179,560,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Kif28
|
UTSW |
1 |
179,555,784 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation