Incidental Mutation 'R5382:Kif28'
| ID |
424765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif28
|
| Ensembl Gene |
ENSMUSG00000087236 |
| Gene Name |
kinesin family member 28 |
| Synonyms |
LOC383592, Gm1305 |
| MMRRC Submission |
042957-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R5382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179522862-179572836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 179527847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 768
(G768D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000131716
AA Change: G768D
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: G768D
| 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 damaging
Transcript: ENSMUST00000211943
AA Change: G700D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221136
AA Change: G768D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223392
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
| Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
| Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
| Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
| Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
| Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
| Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
| Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
| Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
| Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
| Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
| Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
| Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
| Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
| Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
| Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
| Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
| Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
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 |
|
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'- CCAAGTCATCTGGAGGGTCTTG -3'
(R):5'- TTAGGACGCTTTCACTCCTG -3'
Sequencing Primer
(F):5'- TCTCTACTTGGTGGAGAAAATAGTC -3'
(R):5'- CCTGTGACATTCGAGTGCTAACTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation