Incidental Mutation 'R8697:Kif20a'
ID |
668805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20a
|
Ensembl Gene |
ENSMUSG00000003779 |
Gene Name |
kinesin family member 20A |
Synonyms |
Rabkinesin-6, Rab6kifl |
MMRRC Submission |
068551-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8697 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 34761584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Glutamic Acid
at position 326
(Q326E)
|
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: Q326E
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779 AA Change: Q326E
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: Q326E
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779 AA Change: Q326E
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 |
0.0762 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
C |
T |
1: 161,795,565 (GRCm39) |
A8T |
probably benign |
Het |
Acacb |
T |
C |
5: 114,351,441 (GRCm39) |
V1130A |
probably damaging |
Het |
Ackr1 |
A |
G |
1: 173,159,775 (GRCm39) |
F248S |
probably damaging |
Het |
Alx4 |
G |
A |
2: 93,505,657 (GRCm39) |
R253Q |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,122,783 (GRCm39) |
I485V |
possibly damaging |
Het |
Aqp7 |
T |
C |
4: 41,045,305 (GRCm39) |
E25G |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,307,524 (GRCm39) |
N1753D |
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,570,865 (GRCm39) |
N1063K |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,231,945 (GRCm39) |
V1801A |
probably benign |
Het |
Ccdc171 |
T |
C |
4: 83,600,577 (GRCm39) |
W868R |
probably damaging |
Het |
Cecr2 |
T |
C |
6: 120,710,779 (GRCm39) |
Y165H |
probably damaging |
Het |
Clip4 |
G |
T |
17: 72,163,270 (GRCm39) |
G614V |
possibly damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,838,986 (GRCm39) |
M236L |
probably damaging |
Het |
Ctps1 |
T |
C |
4: 120,399,947 (GRCm39) |
D470G |
probably benign |
Het |
Dmwd |
A |
C |
7: 18,812,113 (GRCm39) |
Q189P |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,976,985 (GRCm39) |
I1869T |
possibly damaging |
Het |
Eepd1 |
A |
G |
9: 25,497,998 (GRCm39) |
N361S |
probably benign |
Het |
Ephb6 |
C |
T |
6: 41,591,157 (GRCm39) |
H105Y |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,239,295 (GRCm39) |
Y603* |
probably null |
Het |
Flt3 |
T |
C |
5: 147,294,811 (GRCm39) |
Y420C |
possibly damaging |
Het |
Frem2 |
T |
A |
3: 53,433,249 (GRCm39) |
T2692S |
probably damaging |
Het |
Gna12 |
T |
A |
5: 140,771,200 (GRCm39) |
R157S |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,651,883 (GRCm39) |
S243T |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,819,320 (GRCm39) |
|
probably benign |
Het |
Hoxd11 |
G |
A |
2: 74,513,013 (GRCm39) |
G93R |
unknown |
Het |
Hydin |
A |
G |
8: 111,259,515 (GRCm39) |
I2496V |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,226,308 (GRCm39) |
I2455T |
probably benign |
Het |
Ilvbl |
A |
T |
10: 78,419,196 (GRCm39) |
R482* |
probably null |
Het |
Itpr1 |
A |
G |
6: 108,500,327 (GRCm39) |
Y2640C |
probably damaging |
Het |
Lamp1 |
A |
T |
8: 13,224,448 (GRCm39) |
M371L |
possibly damaging |
Het |
Lcn6 |
A |
G |
2: 25,567,166 (GRCm39) |
N56D |
probably benign |
Het |
Map3k10 |
A |
G |
7: 27,362,784 (GRCm39) |
V434A |
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,065,615 (GRCm39) |
N331S |
probably damaging |
Het |
Mndal |
C |
A |
1: 173,700,558 (GRCm39) |
E138* |
probably null |
Het |
Morc3 |
T |
C |
16: 93,667,908 (GRCm39) |
V762A |
probably benign |
Het |
Ngef |
A |
T |
1: 87,417,459 (GRCm39) |
F279Y |
probably damaging |
Het |
Or10ac1 |
A |
G |
6: 42,515,629 (GRCm39) |
V109A |
probably damaging |
Het |
Or5m13b |
A |
T |
2: 85,754,200 (GRCm39) |
K196I |
possibly damaging |
Het |
Padi4 |
GGAGCTCCTGA |
GGA |
4: 140,485,230 (GRCm39) |
|
probably null |
Het |
Pcdhb4 |
G |
A |
18: 37,441,832 (GRCm39) |
V381M |
probably benign |
Het |
Ppm1d |
T |
C |
11: 85,227,986 (GRCm39) |
Y301H |
possibly damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,877,055 (GRCm39) |
T807A |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Sipa1l2 |
T |
C |
8: 126,208,855 (GRCm39) |
K518E |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,328,274 (GRCm39) |
S1441G |
probably damaging |
Het |
Slc52a3 |
A |
G |
2: 151,846,396 (GRCm39) |
D119G |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,628,042 (GRCm39) |
H379Y |
unknown |
Het |
Ssr1 |
G |
T |
13: 38,167,425 (GRCm39) |
S246* |
probably null |
Het |
Tars2 |
C |
T |
3: 95,653,374 (GRCm39) |
E509K |
possibly damaging |
Het |
Tepsin |
G |
T |
11: 119,988,354 (GRCm39) |
Y34* |
probably null |
Het |
Tmtc2 |
A |
G |
10: 105,205,831 (GRCm39) |
I488T |
probably damaging |
Het |
Trgc2 |
A |
T |
13: 19,491,514 (GRCm39) |
M69K |
|
Het |
Ttn |
A |
G |
2: 76,575,120 (GRCm39) |
W25258R |
probably damaging |
Het |
Utp14b |
T |
C |
1: 78,644,244 (GRCm39) |
M714T |
probably benign |
Het |
Vwa3b |
T |
A |
1: 37,115,461 (GRCm39) |
H308Q |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,206,220 (GRCm39) |
D480G |
probably benign |
Het |
Xcl1 |
C |
T |
1: 164,763,008 (GRCm39) |
V18I |
unknown |
Het |
Zcchc2 |
C |
A |
1: 105,958,494 (GRCm39) |
N988K |
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 |
R7217:Kif20a
|
UTSW |
18 |
34,762,613 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
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'- AGCAAAATGAGATTCTCCACGG -3'
(R):5'- CCACTTTCAATAGTTTCCAGGC -3'
Sequencing Primer
(F):5'- TGAGATTCTCCACGGTTAATGAC -3'
(R):5'- AATAGTTTCCAGGCTTCCTCAAC -3'
|
Posted On |
2021-04-30 |