Incidental Mutation 'R2358:Kif28'
ID |
246986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif28
|
Ensembl Gene |
ENSMUSG00000087236 |
Gene Name |
kinesin family member 28 |
Synonyms |
LOC383592, Gm1305 |
MMRRC Submission |
040340-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.610)
|
Stock # |
R2358 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
179522862-179572836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 179537024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 486
(H486Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118935
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131716]
[ENSMUST00000211943]
[ENSMUST00000221136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131716
AA Change: H486Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118935 Gene: ENSMUSG00000087236 AA Change: H486Q
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: H418Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221136
AA Change: H486Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly damaging |
Het |
|
Other mutations in Kif28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00486:Kif28
|
APN |
1 |
179,530,081 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGACATTTCACAAGAGAGCC -3'
(R):5'- AATAGCATCCTCACTGTCTGCC -3'
Sequencing Primer
(F):5'- TTTCACAAGAGAGCCACCCCTAC -3'
(R):5'- TGCCAGCTCCCTGCACAC -3'
|
Posted On |
2014-10-30 |