Incidental Mutation 'R7217:Kif20a'
ID |
561560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20a
|
Ensembl Gene |
ENSMUSG00000003779 |
Gene Name |
kinesin family member 20A |
Synonyms |
Rabkinesin-6, Rab6kifl |
MMRRC Submission |
045289-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34762613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 495
(H495Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000025228]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
[ENSMUST00000133181]
[ENSMUST00000166044]
[ENSMUST00000167161]
|
AlphaFold |
P97329 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003876
|
SMART Domains |
Protein: ENSMUSP00000003876 Gene: ENSMUSG00000003778
Domain | Start | End | E-Value | Type |
Blast:SANT
|
15 |
74 |
4e-33 |
BLAST |
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
low complexity region
|
759 |
773 |
N/A |
INTRINSIC |
BROMO
|
778 |
886 |
7.59e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025228
|
SMART Domains |
Protein: ENSMUSP00000025228 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
Pfam:APC8
|
22 |
152 |
1.9e-42 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097626
|
SMART Domains |
Protein: ENSMUSP00000095229 Gene: ENSMUSG00000003778
Domain | Start | End | E-Value | Type |
Blast:SANT
|
15 |
74 |
3e-33 |
BLAST |
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
low complexity region
|
290 |
305 |
N/A |
INTRINSIC |
low complexity region
|
313 |
331 |
N/A |
INTRINSIC |
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
BROMO
|
705 |
813 |
7.59e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115765
|
SMART Domains |
Protein: ENSMUSP00000111431 Gene: ENSMUSG00000003778
Domain | Start | End | E-Value | Type |
Blast:SANT
|
15 |
74 |
5e-33 |
BLAST |
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
low complexity region
|
759 |
773 |
N/A |
INTRINSIC |
BROMO
|
778 |
886 |
7.59e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115766
|
SMART Domains |
Protein: ENSMUSP00000111432 Gene: ENSMUSG00000003778
Domain | Start | End | E-Value | Type |
Blast:SANT
|
15 |
74 |
4e-33 |
BLAST |
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
low complexity region
|
323 |
337 |
N/A |
INTRINSIC |
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
BROMO
|
708 |
816 |
7.59e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133181
|
SMART Domains |
Protein: ENSMUSP00000122420 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
Pfam:ANAPC8
|
28 |
151 |
6.9e-31 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166044
AA Change: H495Q
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779 AA Change: H495Q
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167161
AA Change: H495Q
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779 AA Change: H495Q
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0673 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
Het |
|
Other mutations in Kif20a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02448:Kif20a
|
APN |
18 |
34,761,507 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02654:Kif20a
|
APN |
18 |
34,765,076 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02739:Kif20a
|
APN |
18 |
34,761,996 (GRCm39) |
nonsense |
probably null |
|
R0600:Kif20a
|
UTSW |
18 |
34,762,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R0748:Kif20a
|
UTSW |
18 |
34,761,241 (GRCm39) |
splice site |
probably benign |
|
R0856:Kif20a
|
UTSW |
18 |
34,764,271 (GRCm39) |
missense |
probably benign |
|
R1278:Kif20a
|
UTSW |
18 |
34,759,830 (GRCm39) |
missense |
probably benign |
0.00 |
R1752:Kif20a
|
UTSW |
18 |
34,764,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2036:Kif20a
|
UTSW |
18 |
34,761,515 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2143:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2144:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4231:Kif20a
|
UTSW |
18 |
34,765,091 (GRCm39) |
missense |
probably benign |
|
R4372:Kif20a
|
UTSW |
18 |
34,762,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Kif20a
|
UTSW |
18 |
34,764,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Kif20a
|
UTSW |
18 |
34,765,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5524:Kif20a
|
UTSW |
18 |
34,763,678 (GRCm39) |
critical splice donor site |
probably null |
|
R5867:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5869:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5949:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5958:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5959:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5967:Kif20a
|
UTSW |
18 |
34,763,580 (GRCm39) |
missense |
probably benign |
0.10 |
R5969:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R6175:Kif20a
|
UTSW |
18 |
34,761,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R6490:Kif20a
|
UTSW |
18 |
34,762,543 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6694:Kif20a
|
UTSW |
18 |
34,758,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R6866:Kif20a
|
UTSW |
18 |
34,761,546 (GRCm39) |
missense |
probably benign |
0.10 |
R7129:Kif20a
|
UTSW |
18 |
34,765,588 (GRCm39) |
missense |
probably benign |
0.00 |
R7397:Kif20a
|
UTSW |
18 |
34,760,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Kif20a
|
UTSW |
18 |
34,758,591 (GRCm39) |
missense |
probably benign |
0.03 |
R8302:Kif20a
|
UTSW |
18 |
34,765,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Kif20a
|
UTSW |
18 |
34,761,444 (GRCm39) |
missense |
probably benign |
0.00 |
R8325:Kif20a
|
UTSW |
18 |
34,759,975 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8697:Kif20a
|
UTSW |
18 |
34,761,584 (GRCm39) |
missense |
probably benign |
0.19 |
R9022:Kif20a
|
UTSW |
18 |
34,760,898 (GRCm39) |
missense |
probably benign |
0.00 |
R9331:Kif20a
|
UTSW |
18 |
34,762,562 (GRCm39) |
nonsense |
probably null |
|
R9345:Kif20a
|
UTSW |
18 |
34,759,779 (GRCm39) |
missense |
probably benign |
0.00 |
R9716:Kif20a
|
UTSW |
18 |
34,762,228 (GRCm39) |
missense |
possibly damaging |
0.66 |
X0027:Kif20a
|
UTSW |
18 |
34,758,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGCACTTATACTCACAATGC -3'
(R):5'- GAGCTATTTTAAGATTGCCAGTCC -3'
Sequencing Primer
(F):5'- TGCTTTTTATCTGATTCTGTACAAGG -3'
(R):5'- TAAGATTGCCAGTCCTGCGG -3'
|
Posted On |
2019-06-26 |