Incidental Mutation 'R8325:Kif20a'
ID |
644082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20a
|
Ensembl Gene |
ENSMUSG00000003779 |
Gene Name |
kinesin family member 20A |
Synonyms |
Rabkinesin-6, Rab6kifl |
MMRRC Submission |
067857-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8325 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34759975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 94
(T94A)
|
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 |
possibly damaging
Transcript: ENSMUST00000166044
AA Change: T94A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779 AA Change: T94A
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 |
possibly damaging
Transcript: ENSMUST00000167161
AA Change: T94A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779 AA Change: T94A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acr |
T |
C |
15: 89,453,954 (GRCm39) |
V97A |
probably benign |
Het |
Agrn |
C |
T |
4: 156,258,119 (GRCm39) |
G1081D |
probably benign |
Het |
Ang2 |
A |
G |
14: 51,432,960 (GRCm39) |
S141P |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,134,237 (GRCm39) |
|
probably null |
Het |
Apba2 |
A |
T |
7: 64,345,730 (GRCm39) |
T307S |
probably benign |
Het |
Cadm2 |
T |
A |
16: 66,612,338 (GRCm39) |
N84Y |
possibly damaging |
Het |
Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,092,448 (GRCm39) |
C478R |
probably benign |
Het |
Cep290 |
A |
C |
10: 100,353,670 (GRCm39) |
H801P |
probably benign |
Het |
Chfr |
T |
A |
5: 110,310,629 (GRCm39) |
Y555* |
probably null |
Het |
Cmas |
T |
C |
6: 142,717,065 (GRCm39) |
|
probably null |
Het |
Cmtm7 |
T |
C |
9: 114,592,415 (GRCm39) |
I61V |
probably benign |
Het |
Cyb5d2 |
A |
G |
11: 72,669,651 (GRCm39) |
S236P |
possibly damaging |
Het |
Dcp1b |
C |
T |
6: 119,192,397 (GRCm39) |
Q438* |
probably null |
Het |
Dgcr8 |
T |
C |
16: 18,076,149 (GRCm39) |
Q678R |
probably damaging |
Het |
Emc1 |
T |
A |
4: 139,092,521 (GRCm39) |
M487K |
possibly damaging |
Het |
Gm7361 |
T |
C |
5: 26,467,154 (GRCm39) |
S258P |
probably damaging |
Het |
Hbs1l |
A |
G |
10: 21,183,548 (GRCm39) |
I96M |
probably benign |
Het |
Ifi27l2a |
G |
A |
12: 103,409,144 (GRCm39) |
A49V |
unknown |
Het |
Igkv10-96 |
T |
C |
6: 68,609,088 (GRCm39) |
Y69C |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,225,954 (GRCm39) |
V2573D |
probably damaging |
Het |
Kcng3 |
T |
C |
17: 83,939,007 (GRCm39) |
N14S |
possibly damaging |
Het |
Lcp2 |
T |
A |
11: 34,032,394 (GRCm39) |
V324E |
probably benign |
Het |
Lmod3 |
T |
C |
6: 97,224,379 (GRCm39) |
K481E |
probably benign |
Het |
Met |
A |
G |
6: 17,571,671 (GRCm39) |
E1330G |
probably damaging |
Het |
Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,316,415 (GRCm39) |
|
probably null |
Het |
Mss51 |
T |
C |
14: 20,534,771 (GRCm39) |
D333G |
possibly damaging |
Het |
Nav3 |
A |
G |
10: 109,541,464 (GRCm39) |
V1933A |
probably benign |
Het |
Nbas |
A |
G |
12: 13,338,796 (GRCm39) |
Y212C |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,521,608 (GRCm39) |
I104M |
probably benign |
Het |
Npsr1 |
C |
T |
9: 24,198,118 (GRCm39) |
|
probably benign |
Het |
Nt5e |
A |
G |
9: 88,245,615 (GRCm39) |
E295G |
probably benign |
Het |
Or6b1 |
T |
C |
6: 42,815,124 (GRCm39) |
F103S |
probably damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,537 (GRCm39) |
L186Q |
probably damaging |
Het |
Papss1 |
A |
G |
3: 131,288,372 (GRCm39) |
T136A |
probably benign |
Het |
Pcdha1 |
A |
T |
18: 37,063,867 (GRCm39) |
D177V |
possibly damaging |
Het |
Pcolce2 |
A |
T |
9: 95,574,973 (GRCm39) |
S308C |
probably damaging |
Het |
Pdhx |
G |
T |
2: 102,872,597 (GRCm39) |
P162T |
probably benign |
Het |
Plin3 |
C |
T |
17: 56,593,268 (GRCm39) |
R98Q |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,321,271 (GRCm39) |
N1243S |
|
Het |
Serpinb1b |
A |
T |
13: 33,277,584 (GRCm39) |
K272N |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,575,982 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,096,257 (GRCm39) |
M739K |
probably benign |
Het |
Tbc1d9 |
G |
A |
8: 83,966,667 (GRCm39) |
|
probably null |
Het |
Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm39) |
D35G |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,952,524 (GRCm39) |
V549A |
probably damaging |
Het |
Usp18 |
T |
C |
6: 121,230,769 (GRCm39) |
L66S |
probably damaging |
Het |
Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm39) |
S295N |
probably benign |
Het |
Vmn2r29 |
T |
C |
7: 7,244,941 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r91 |
C |
A |
17: 18,356,625 (GRCm39) |
A764D |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,689,444 (GRCm39) |
I3031F |
|
Het |
Wdr7 |
A |
G |
18: 63,911,535 (GRCm39) |
|
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 |
|
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 |
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'- TACAGGCTCTACTGGAGGAC -3'
(R):5'- GCTTCAGCAAAATCCCCGTC -3'
Sequencing Primer
(F):5'- CTCAGAGAAGGTGAAAGTTTACCTTC -3'
(R):5'- CCATCGTATTCTTACCAGGGAGAAG -3'
|
Posted On |
2020-09-02 |