Incidental Mutation 'R0788:Kif28'
| ID |
76325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif28
|
| Ensembl Gene |
ENSMUSG00000087236 |
| Gene Name |
kinesin family member 28 |
| Synonyms |
LOC383592, Gm1305 |
| MMRRC Submission |
038968-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R0788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179522862-179572836 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 179532788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131716]
[ENSMUST00000211943]
[ENSMUST00000221136]
[ENSMUST00000223392]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131716
|
| SMART Domains |
Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223392
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
| Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
| Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
| Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,809,332 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
| Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
| Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
| Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,401,886 (GRCm39) |
K59E |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
| Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,482 (GRCm39) |
P1354S |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
| Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
| Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
| Slfn3 |
G |
A |
11: 83,103,662 (GRCm39) |
G178S |
possibly damaging |
Het |
| Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
| Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
| Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
| Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,092 (GRCm39) |
|
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATCCCCTGTGTACTGTGGAAGC -3'
(R):5'- AGCCCCAAGAGGGAATTAATCGCC -3'
Sequencing Primer
(F):5'- GTACTGTGGAAGCCTTCTGAG -3'
(R):5'- GAATTAATCGCCTTAGGAAGCAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation