Incidental Mutation 'R7861:Kif20b'
| ID |
607554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif20b
|
| Ensembl Gene |
ENSMUSG00000024795 |
| Gene Name |
kinesin family member 20B |
| Synonyms |
Kif20b, Mphosph1, N-6 kinesin |
| MMRRC Submission |
045914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R7861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34922361-34975745 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34939922 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 617
(D617E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087341
AA Change: D617E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: D617E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KISc
|
2 |
46 |
5e-15 |
BLAST |
|
KISc
|
56 |
483 |
1.19e-103 |
SMART |
|
low complexity region
|
521 |
551 |
N/A |
INTRINSIC |
|
coiled coil region
|
565 |
602 |
N/A |
INTRINSIC |
|
coiled coil region
|
705 |
746 |
N/A |
INTRINSIC |
|
coiled coil region
|
823 |
947 |
N/A |
INTRINSIC |
|
coiled coil region
|
1020 |
1325 |
N/A |
INTRINSIC |
|
coiled coil region
|
1348 |
1510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223907
AA Change: D617E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,649,494 (GRCm38) |
I50F |
possibly damaging |
Het |
| Abcc3 |
T |
C |
11: 94,357,249 (GRCm38) |
D1175G |
probably null |
Het |
| Accs |
C |
A |
2: 93,835,732 (GRCm38) |
*503L |
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,114,457 (GRCm38) |
E520G |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,548,453 (GRCm38) |
C215F |
probably benign |
Het |
| Apbb1ip |
A |
C |
2: 22,816,978 (GRCm38) |
D9A |
unknown |
Het |
| Atad2 |
G |
A |
15: 58,125,780 (GRCm38) |
A228V |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,788,359 (GRCm38) |
S430P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 25,001,148 (GRCm38) |
D6G |
unknown |
Het |
| Brca1 |
A |
T |
11: 101,526,422 (GRCm38) |
N295K |
possibly damaging |
Het |
| Caly |
C |
A |
7: 140,081,388 (GRCm38) |
|
probably benign |
Het |
| Ces1h |
A |
G |
8: 93,357,425 (GRCm38) |
Y386H |
unknown |
Het |
| Col14a1 |
A |
G |
15: 55,444,616 (GRCm38) |
D1044G |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,349,157 (GRCm38) |
D888G |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,252,604 (GRCm38) |
E568G |
possibly damaging |
Het |
| Dhrs7b |
T |
A |
11: 60,855,742 (GRCm38) |
L219Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,245,212 (GRCm38) |
P80L |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,616,759 (GRCm38) |
P545S |
probably damaging |
Het |
| Dnajc24 |
A |
T |
2: 106,002,035 (GRCm38) |
M1K |
probably null |
Het |
| Dusp12 |
C |
T |
1: 170,874,526 (GRCm38) |
W301* |
probably null |
Het |
| Dyrk1a |
G |
T |
16: 94,691,716 (GRCm38) |
G603* |
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,679,702 (GRCm38) |
V403E |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,496,274 (GRCm38) |
E90G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,805,910 (GRCm38) |
S1303G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,228,069 (GRCm38) |
Y627N |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,664,557 (GRCm38) |
L22* |
probably null |
Het |
| Fcamr |
T |
A |
1: 130,814,638 (GRCm38) |
N587K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 94,103,331 (GRCm38) |
N946S |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,468,999 (GRCm38) |
I477N |
possibly damaging |
Het |
| Grifin |
C |
T |
5: 140,564,525 (GRCm38) |
A54T |
probably benign |
Het |
| Gtf2b |
A |
G |
3: 142,781,344 (GRCm38) |
I180M |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,559 (GRCm38) |
D378V |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,628,444 (GRCm38) |
E378G |
probably damaging |
Het |
| Khdc1a |
T |
C |
1: 21,350,399 (GRCm38) |
I81T |
possibly damaging |
Het |
| Kifc3 |
T |
A |
8: 95,107,537 (GRCm38) |
|
probably null |
Het |
| Kirrel3 |
C |
T |
9: 35,020,123 (GRCm38) |
H403Y |
possibly damaging |
Het |
| Klf15 |
G |
A |
6: 90,466,838 (GRCm38) |
V132I |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,818,734 (GRCm38) |
S3429P |
unknown |
Het |
| Lama1 |
T |
G |
17: 67,809,221 (GRCm38) |
L2361R |
|
Het |
| Lrp1b |
T |
C |
2: 40,697,558 (GRCm38) |
D3895G |
|
Het |
| Mcoln3 |
A |
C |
3: 146,124,791 (GRCm38) |
E92A |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,108,688 (GRCm38) |
M135T |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,946,967 (GRCm38) |
*820Q |
probably null |
Het |
| Ncoa7 |
A |
G |
10: 30,691,060 (GRCm38) |
S541P |
probably benign |
Het |
| Nup54 |
T |
C |
5: 92,431,093 (GRCm38) |
T33A |
unknown |
Het |
| Or10al2 |
C |
A |
17: 37,672,517 (GRCm38) |
Q165K |
possibly damaging |
Het |
| Or13a17 |
T |
G |
7: 140,691,571 (GRCm38) |
I222S |
probably damaging |
Het |
| Or1s2 |
T |
C |
19: 13,781,446 (GRCm38) |
V276A |
possibly damaging |
Het |
| Or4k42 |
T |
A |
2: 111,490,024 (GRCm38) |
I45F |
probably damaging |
Het |
| Or51a5 |
T |
A |
7: 103,122,692 (GRCm38) |
I27F |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,826,414 (GRCm38) |
C18R |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,935,324 (GRCm38) |
E284G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm38) |
|
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,440,142 (GRCm38) |
W598L |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,544 (GRCm38) |
C49S |
probably damaging |
Het |
| Pramel11 |
T |
C |
4: 143,897,718 (GRCm38) |
M70V |
possibly damaging |
Het |
| Prdx1 |
T |
G |
4: 116,693,738 (GRCm38) |
D135E |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,803,129 (GRCm38) |
Y88F |
probably damaging |
Het |
| Rem2 |
C |
A |
14: 54,477,799 (GRCm38) |
H144Q |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,144,064 (GRCm38) |
D737G |
probably damaging |
Het |
| Srd5a3 |
C |
T |
5: 76,147,819 (GRCm38) |
Q119* |
probably null |
Het |
| Suclg2 |
G |
T |
6: 95,594,722 (GRCm38) |
Q120K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,625,431 (GRCm38) |
M1282K |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 50,756,692 (GRCm38) |
Q620L |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,472,154 (GRCm38) |
A91S |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,159,698 (GRCm38) |
F1184Y |
probably benign |
Het |
| Trim28 |
T |
A |
7: 13,028,412 (GRCm38) |
V321E |
possibly damaging |
Het |
| Trim5 |
C |
A |
7: 104,266,468 (GRCm38) |
|
probably null |
Het |
| Ugt2b37 |
A |
T |
5: 87,242,440 (GRCm38) |
Y382* |
probably null |
Het |
| Usp40 |
C |
T |
1: 87,982,130 (GRCm38) |
G534D |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,934,463 (GRCm38) |
H823Q |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,087,963 (GRCm38) |
M508L |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,715,424 (GRCm38) |
I296F |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,655,304 (GRCm38) |
S2563G |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 111,494,280 (GRCm38) |
F207L |
|
Het |
| Zan |
A |
G |
5: 137,407,033 (GRCm38) |
S3777P |
unknown |
Het |
| Zfp277 |
T |
C |
12: 40,315,881 (GRCm38) |
N530D |
possibly damaging |
Het |
| Zfp365 |
G |
A |
10: 67,909,919 (GRCm38) |
R10W |
probably damaging |
Het |
| Zfp384 |
A |
T |
6: 125,036,325 (GRCm38) |
H452L |
probably damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,648,186 (GRCm38) |
D241N |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,217,143 (GRCm38) |
L509Q |
probably damaging |
Het |
|
| Other mutations in Kif20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Kif20b
|
APN |
19 |
34,947,660 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01021:Kif20b
|
APN |
19 |
34,938,260 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01590:Kif20b
|
APN |
19 |
34,954,726 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01691:Kif20b
|
APN |
19 |
34,935,743 (GRCm38) |
splice site |
probably benign |
|
|
IGL01730:Kif20b
|
APN |
19 |
34,950,523 (GRCm38) |
nonsense |
probably null |
|
|
IGL02078:Kif20b
|
APN |
19 |
34,935,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02174:Kif20b
|
APN |
19 |
34,934,458 (GRCm38) |
splice site |
probably benign |
|
|
IGL02536:Kif20b
|
APN |
19 |
34,974,559 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL03029:Kif20b
|
APN |
19 |
34,950,913 (GRCm38) |
missense |
probably benign |
|
|
IGL03186:Kif20b
|
APN |
19 |
34,934,944 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL03205:Kif20b
|
APN |
19 |
34,959,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03493:Kif20b
|
APN |
19 |
34,959,550 (GRCm38) |
nonsense |
probably null |
|
|
R0319:Kif20b
|
UTSW |
19 |
34,947,732 (GRCm38) |
splice site |
probably benign |
|
|
R1069:Kif20b
|
UTSW |
19 |
34,950,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1137:Kif20b
|
UTSW |
19 |
34,937,086 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1255:Kif20b
|
UTSW |
19 |
34,950,106 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1352:Kif20b
|
UTSW |
19 |
34,924,635 (GRCm38) |
missense |
probably benign |
|
|
R1466:Kif20b
|
UTSW |
19 |
34,950,599 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1466:Kif20b
|
UTSW |
19 |
34,950,599 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1473:Kif20b
|
UTSW |
19 |
34,974,496 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1545:Kif20b
|
UTSW |
19 |
34,928,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1647:Kif20b
|
UTSW |
19 |
34,936,790 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1648:Kif20b
|
UTSW |
19 |
34,936,790 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1752:Kif20b
|
UTSW |
19 |
34,938,336 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1835:Kif20b
|
UTSW |
19 |
34,956,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1889:Kif20b
|
UTSW |
19 |
34,941,208 (GRCm38) |
unclassified |
probably benign |
|
|
R1937:Kif20b
|
UTSW |
19 |
34,952,878 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2112:Kif20b
|
UTSW |
19 |
34,931,732 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2315:Kif20b
|
UTSW |
19 |
34,931,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2385:Kif20b
|
UTSW |
19 |
34,959,419 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2867:Kif20b
|
UTSW |
19 |
34,940,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2867:Kif20b
|
UTSW |
19 |
34,940,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3086:Kif20b
|
UTSW |
19 |
34,929,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3116:Kif20b
|
UTSW |
19 |
34,970,080 (GRCm38) |
missense |
probably benign |
0.38 |
|
R3407:Kif20b
|
UTSW |
19 |
34,950,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3834:Kif20b
|
UTSW |
19 |
34,935,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3882:Kif20b
|
UTSW |
19 |
34,950,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4698:Kif20b
|
UTSW |
19 |
34,951,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4721:Kif20b
|
UTSW |
19 |
34,938,373 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4883:Kif20b
|
UTSW |
19 |
34,966,122 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4901:Kif20b
|
UTSW |
19 |
34,934,436 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4923:Kif20b
|
UTSW |
19 |
34,941,211 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5538:Kif20b
|
UTSW |
19 |
34,952,964 (GRCm38) |
nonsense |
probably null |
|
|
R5540:Kif20b
|
UTSW |
19 |
34,938,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5558:Kif20b
|
UTSW |
19 |
34,951,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5580:Kif20b
|
UTSW |
19 |
34,949,728 (GRCm38) |
splice site |
probably null |
|
|
R5934:Kif20b
|
UTSW |
19 |
34,941,321 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6019:Kif20b
|
UTSW |
19 |
34,950,464 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6464:Kif20b
|
UTSW |
19 |
34,934,441 (GRCm38) |
missense |
probably benign |
|
|
R6613:Kif20b
|
UTSW |
19 |
34,936,984 (GRCm38) |
nonsense |
probably null |
|
|
R6745:Kif20b
|
UTSW |
19 |
34,928,876 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7097:Kif20b
|
UTSW |
19 |
34,974,492 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7237:Kif20b
|
UTSW |
19 |
34,950,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7260:Kif20b
|
UTSW |
19 |
34,950,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7373:Kif20b
|
UTSW |
19 |
34,935,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7418:Kif20b
|
UTSW |
19 |
34,929,687 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7814:Kif20b
|
UTSW |
19 |
34,950,955 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8017:Kif20b
|
UTSW |
19 |
34,939,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8696:Kif20b
|
UTSW |
19 |
34,937,352 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8724:Kif20b
|
UTSW |
19 |
34,938,746 (GRCm38) |
unclassified |
probably benign |
|
|
R8849:Kif20b
|
UTSW |
19 |
34,938,316 (GRCm38) |
nonsense |
probably null |
|
|
R8947:Kif20b
|
UTSW |
19 |
34,941,229 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8998:Kif20b
|
UTSW |
19 |
34,936,853 (GRCm38) |
splice site |
probably benign |
|
|
R9017:Kif20b
|
UTSW |
19 |
34,949,803 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9245:Kif20b
|
UTSW |
19 |
34,938,325 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9613:Kif20b
|
UTSW |
19 |
34,942,534 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9619:Kif20b
|
UTSW |
19 |
34,956,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9732:Kif20b
|
UTSW |
19 |
34,952,953 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9746:Kif20b
|
UTSW |
19 |
34,950,749 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Kif20b
|
UTSW |
19 |
34,950,451 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Kif20b
|
UTSW |
19 |
34,952,875 (GRCm38) |
missense |
probably benign |
0.11 |
|
Z1177:Kif20b
|
UTSW |
19 |
34,950,466 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATCTATAGTTGTGTGCAAGAC -3'
(R):5'- CGTTCATGAAGAAGTGTCTCCC -3'
Sequencing Primer
(F):5'- CTATAGTTGTGTGCAAGACTATTAGC -3'
(R):5'- CATGAAGAAGTGTCTCCCTTTAAAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation