Incidental Mutation 'R2036:Kif20a'
| ID |
224691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif20a
|
| Ensembl Gene |
ENSMUSG00000003779 |
| Gene Name |
kinesin family member 20A |
| Synonyms |
Rabkinesin-6, Rab6kifl |
| MMRRC Submission |
040043-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34761515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 303
(S303P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000166044
AA Change: S303P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: S303P
| 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: S303P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: S303P
| 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: ENSMUST00000145431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153569
|
| Meta Mutation Damage Score |
0.8638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930415H17Rik |
C |
T |
11: 99,576,358 (GRCm39) |
C3Y |
unknown |
Het |
| Abr |
G |
T |
11: 76,343,176 (GRCm39) |
T547K |
probably benign |
Het |
| Akr1c21 |
T |
C |
13: 4,626,305 (GRCm39) |
Y110H |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,705,689 (GRCm39) |
K556* |
probably null |
Het |
| Anks1b |
T |
C |
10: 90,805,715 (GRCm39) |
V431A |
probably damaging |
Het |
| Ap5b1 |
T |
C |
19: 5,618,897 (GRCm39) |
S106P |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,917,717 (GRCm39) |
N156D |
possibly damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,297,058 (GRCm39) |
E669G |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,932,318 (GRCm39) |
M201V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,106,376 (GRCm39) |
T112M |
possibly damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,087 (GRCm39) |
N477Y |
possibly damaging |
Het |
| Brinp3 |
A |
T |
1: 146,577,579 (GRCm39) |
I205F |
possibly damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,777 (GRCm39) |
F159S |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,904,221 (GRCm39) |
C61R |
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,301,822 (GRCm39) |
I415T |
possibly damaging |
Het |
| Clnk |
A |
T |
5: 38,910,143 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
C |
T |
2: 172,943,778 (GRCm39) |
R524Q |
possibly damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,924,932 (GRCm39) |
|
probably benign |
Het |
| Ddb1 |
T |
A |
19: 10,588,186 (GRCm39) |
|
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,804,491 (GRCm39) |
Q526K |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,274 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,410 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,632,225 (GRCm39) |
H553R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,179,887 (GRCm39) |
N2908S |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,265,305 (GRCm39) |
|
probably null |
Het |
| Fut9 |
A |
G |
4: 25,620,322 (GRCm39) |
I164T |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,118 (GRCm39) |
|
probably benign |
Het |
| Gm11627 |
C |
T |
11: 102,467,580 (GRCm39) |
V33I |
unknown |
Het |
| Helz2 |
T |
A |
2: 180,879,272 (GRCm39) |
H782L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,531 (GRCm39) |
V220A |
probably damaging |
Het |
| Kif22 |
A |
T |
7: 126,630,126 (GRCm39) |
V470E |
possibly damaging |
Het |
| Majin |
C |
T |
19: 6,263,342 (GRCm39) |
T132M |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,671 (GRCm39) |
|
probably null |
Het |
| Mkrn2 |
C |
A |
6: 115,588,875 (GRCm39) |
P206Q |
probably benign |
Het |
| Mphosph9 |
G |
A |
5: 124,442,274 (GRCm39) |
T358M |
probably damaging |
Het |
| Nkd1 |
A |
G |
8: 89,318,305 (GRCm39) |
D210G |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,831,976 (GRCm39) |
V219I |
probably damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5ae2 |
G |
T |
7: 84,505,566 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
G |
C |
19: 12,658,165 (GRCm39) |
G231A |
probably damaging |
Het |
| Or5p69 |
T |
A |
7: 107,966,947 (GRCm39) |
N83K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,541 (GRCm39) |
D264N |
probably benign |
Het |
| Or9s15 |
A |
T |
1: 92,524,328 (GRCm39) |
E29V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,120,976 (GRCm39) |
Y63H |
probably damaging |
Het |
| Plekha1 |
A |
G |
7: 130,503,922 (GRCm39) |
R210G |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,748 (GRCm39) |
T369I |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,670,979 (GRCm39) |
D1029G |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,357,884 (GRCm39) |
D12G |
probably damaging |
Het |
| Rtn2 |
A |
G |
7: 19,027,664 (GRCm39) |
K120E |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,873,508 (GRCm39) |
S30P |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,986 (GRCm39) |
E795G |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,457,128 (GRCm39) |
Y177F |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,765,372 (GRCm39) |
D2529E |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,513,417 (GRCm39) |
Y409H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,058,876 (GRCm39) |
V323D |
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 |
|
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'- TTCCCAACAGCTGTAAGTGG -3'
(R):5'- CCAATTGAGATCTGGAGCCAAG -3'
Sequencing Primer
(F):5'- CCCAACAGCTGTAAGTGGTATAAATC -3'
(R):5'- TGGAACACTTGACCCCTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation