Incidental Mutation 'R1278:Kif20a'
ID |
150962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20a
|
Ensembl Gene |
ENSMUSG00000003779 |
Gene Name |
kinesin family member 20A |
Synonyms |
Rabkinesin-6, Rab6kifl |
MMRRC Submission |
039344-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34759830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 75
(T75I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130045
(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 |
noncoding transcript
Transcript: ENSMUST00000127159
|
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: T75I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779 AA Change: T75I
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: T75I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779 AA Change: T75I
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 |
noncoding transcript
Transcript: ENSMUST00000152612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153569
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,535,470 (GRCm39) |
S747P |
probably damaging |
Het |
Adgb |
A |
G |
10: 10,258,572 (GRCm39) |
Y1063H |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,900,660 (GRCm39) |
S320P |
probably damaging |
Het |
Ccdc171 |
C |
T |
4: 83,580,095 (GRCm39) |
A622V |
possibly damaging |
Het |
Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,026,292 (GRCm39) |
V1800A |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,077,015 (GRCm39) |
N276S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,159,005 (GRCm39) |
E3389G |
probably damaging |
Het |
Gnb4 |
T |
C |
3: 32,641,886 (GRCm39) |
D247G |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,573,122 (GRCm39) |
T626A |
probably benign |
Het |
Lix1 |
A |
G |
17: 17,647,469 (GRCm39) |
K45R |
probably benign |
Het |
Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
Mark4 |
T |
A |
7: 19,165,695 (GRCm39) |
S533C |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,306,067 (GRCm39) |
V1104D |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,870 (GRCm39) |
D551G |
probably damaging |
Het |
Or5k14 |
G |
T |
16: 58,693,340 (GRCm39) |
P58T |
probably damaging |
Het |
Pla2g4e |
A |
G |
2: 119,998,951 (GRCm39) |
|
probably null |
Het |
Ror1 |
T |
C |
4: 100,299,075 (GRCm39) |
F816S |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Secisbp2 |
G |
T |
13: 51,808,546 (GRCm39) |
V104F |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,988,947 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,667,374 (GRCm39) |
Y846* |
probably null |
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 |
|
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 |
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'- CAGGACCACTTAACGCTTACTGAGG -3'
(R):5'- CCCGTCACTGCAATATGTGCCATC -3'
Sequencing Primer
(F):5'- CACTTAACGCTTACTGAGGAATGAG -3'
(R):5'- tgcaatatgtgccatcgtattc -3'
|
Posted On |
2014-01-29 |