Incidental Mutation 'R7648:Kif28'
| ID |
590623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif28
|
| Ensembl Gene |
ENSMUSG00000087236 |
| Gene Name |
kinesin family member 28 |
| Synonyms |
LOC383592, Gm1305 |
| MMRRC Submission |
045726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R7648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179522862-179572836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179536989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 498
(V498A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131716]
[ENSMUST00000211943]
[ENSMUST00000221136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: V498A
| 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 |
probably benign
Transcript: ENSMUST00000211943
AA Change: V430A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221136
AA Change: V498A
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
| Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
| Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
| Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,305,570 (GRCm39) |
A382T |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,387,840 (GRCm39) |
D207V |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,422 (GRCm39) |
I456K |
probably benign |
Het |
| Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
| Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
| Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
| Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,680,879 (GRCm39) |
K747R |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
| Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
| Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
| Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
| Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,341,861 (GRCm39) |
|
probably null |
Het |
| Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
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 |
|
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 |
|
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'- CTTTGCAGTCTGGCAGAGATG -3'
(R):5'- GCCTCCAATAGCACTGTGTG -3'
Sequencing Primer
(F):5'- TCTGGCAGAGATGGGAAGCC -3'
(R):5'- AATAGCACTGTGTGGTGTTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation