Incidental Mutation 'R7260:Kif20b'
| ID |
564589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif20b
|
| Ensembl Gene |
ENSMUSG00000024795 |
| Gene Name |
kinesin family member 20B |
| Synonyms |
C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex |
| MMRRC Submission |
045352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R7260 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34927610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 957
(I957M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087341
AA Change: I957M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: I957M
| 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: I917M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (78/80) |
| 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 |
|---|
| 2310057J18Rik |
A |
G |
10: 28,849,882 (GRCm39) |
S293P |
probably benign |
Het |
| Actn2 |
T |
C |
13: 12,291,376 (GRCm39) |
N676S |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,702,776 (GRCm39) |
M463I |
possibly damaging |
Het |
| Ankdd1a |
G |
T |
9: 65,411,834 (GRCm39) |
A325D |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,389,493 (GRCm39) |
D463G |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 67,933,637 (GRCm39) |
V755A |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,310,533 (GRCm39) |
F796I |
|
Het |
| Ccnt1 |
G |
A |
15: 98,463,005 (GRCm39) |
Q56* |
probably null |
Het |
| Cd248 |
T |
A |
19: 5,119,383 (GRCm39) |
Y410* |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,721,171 (GRCm39) |
N986K |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,661,168 (GRCm39) |
T314A |
probably benign |
Het |
| Cpped1 |
A |
G |
16: 11,646,327 (GRCm39) |
F142L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,050,574 (GRCm39) |
A2221T |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,831,344 (GRCm39) |
V490L |
probably benign |
Het |
| Cyrib |
A |
T |
15: 63,829,438 (GRCm39) |
F23L |
possibly damaging |
Het |
| Dcst2 |
T |
C |
3: 89,273,593 (GRCm39) |
F157S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,764,985 (GRCm39) |
R788L |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,991,343 (GRCm39) |
Y3145C |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,534,309 (GRCm39) |
R2320W |
probably damaging |
Het |
| Dnai3 |
T |
A |
3: 145,752,295 (GRCm39) |
M794L |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,581,785 (GRCm39) |
T314A |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,934,515 (GRCm39) |
S405G |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,885 (GRCm39) |
F65L |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,199,188 (GRCm39) |
D1360G |
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,125,754 (GRCm39) |
T206A |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,391,287 (GRCm39) |
E625G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,306,849 (GRCm39) |
M172R |
probably damaging |
Het |
| Gk5 |
A |
G |
9: 96,001,663 (GRCm39) |
K54E |
probably benign |
Het |
| Glis3 |
T |
C |
19: 28,508,802 (GRCm39) |
E394G |
probably benign |
Het |
| Helq |
T |
A |
5: 100,939,793 (GRCm39) |
E373D |
probably damaging |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,372 (GRCm39) |
F83L |
probably benign |
Het |
| Ints15 |
A |
G |
5: 143,297,594 (GRCm39) |
V151A |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,161,397 (GRCm39) |
Y197H |
probably benign |
Het |
| Kdm4d |
T |
C |
9: 14,374,454 (GRCm39) |
D468G |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,535 (GRCm39) |
F133S |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,420,338 (GRCm39) |
Y321H |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,373,139 (GRCm39) |
M261L |
probably benign |
Het |
| Mical2 |
A |
T |
7: 111,919,001 (GRCm39) |
Q430L |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,479,978 (GRCm39) |
N885K |
possibly damaging |
Het |
| Ms4a7 |
A |
G |
19: 11,299,710 (GRCm39) |
Y231H |
probably damaging |
Het |
| Msh2 |
G |
T |
17: 88,025,047 (GRCm39) |
V642F |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,396,385 (GRCm39) |
A166S |
unknown |
Het |
| Myo18b |
T |
C |
5: 112,923,154 (GRCm39) |
I1868V |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,835,578 (GRCm39) |
S975P |
probably benign |
Het |
| Oacyl |
T |
C |
18: 65,831,438 (GRCm39) |
L25P |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,731 (GRCm39) |
N189S |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,388 (GRCm39) |
F258S |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,852 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8a1 |
T |
A |
9: 37,642,049 (GRCm39) |
I77F |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,304,970 (GRCm39) |
I275V |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,117,673 (GRCm39) |
R1674Q |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,604,759 (GRCm39) |
Y55N |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,993,302 (GRCm39) |
V207A |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,216,455 (GRCm39) |
R540L |
possibly damaging |
Het |
| Psapl1 |
G |
A |
5: 36,362,556 (GRCm39) |
V383M |
probably benign |
Het |
| Rars1 |
C |
A |
11: 35,725,281 (GRCm39) |
A10S |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,106,610 (GRCm39) |
K454* |
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,364,803 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Rngtt |
T |
C |
4: 33,356,176 (GRCm39) |
S338P |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,025,681 (GRCm39) |
E189G |
unknown |
Het |
| Slc30a3 |
G |
A |
5: 31,245,690 (GRCm39) |
T281I |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,063,885 (GRCm39) |
D457E |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,537,419 (GRCm39) |
Q4274K |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 75,991,853 (GRCm39) |
L1938F |
probably damaging |
Het |
| Tmem70 |
C |
A |
1: 16,735,590 (GRCm39) |
T20K |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,813 (GRCm39) |
E1502G |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,704 (GRCm39) |
S438T |
probably benign |
Het |
| Tubb2a |
T |
A |
13: 34,259,397 (GRCm39) |
Q131L |
probably damaging |
Het |
| Ube2v1 |
A |
G |
2: 167,471,114 (GRCm39) |
S26P |
probably benign |
Het |
| Unc13a |
G |
T |
8: 72,113,229 (GRCm39) |
S207R |
possibly damaging |
Het |
| Usp35 |
T |
G |
7: 96,969,286 (GRCm39) |
D362A |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,587,334 (GRCm39) |
I2487T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,359 (GRCm39) |
H496L |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,387,138 (GRCm39) |
A159V |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,085 (GRCm39) |
K467E |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,461 (GRCm39) |
T403A |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,819,843 (GRCm39) |
L416P |
probably damaging |
Het |
|
| Other mutations in Kif20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Kif20b
|
APN |
19 |
34,925,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01021:Kif20b
|
APN |
19 |
34,915,660 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01590:Kif20b
|
APN |
19 |
34,932,126 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01691:Kif20b
|
APN |
19 |
34,913,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL01730:Kif20b
|
APN |
19 |
34,927,923 (GRCm39) |
nonsense |
probably null |
|
|
IGL02078:Kif20b
|
APN |
19 |
34,913,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Kif20b
|
APN |
19 |
34,911,858 (GRCm39) |
splice site |
probably benign |
|
|
IGL02536:Kif20b
|
APN |
19 |
34,951,959 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03029:Kif20b
|
APN |
19 |
34,928,313 (GRCm39) |
missense |
probably benign |
|
|
IGL03186:Kif20b
|
APN |
19 |
34,912,344 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03205:Kif20b
|
APN |
19 |
34,936,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03493:Kif20b
|
APN |
19 |
34,936,950 (GRCm39) |
nonsense |
probably null |
|
|
R0319:Kif20b
|
UTSW |
19 |
34,925,132 (GRCm39) |
splice site |
probably benign |
|
|
R1069:Kif20b
|
UTSW |
19 |
34,928,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Kif20b
|
UTSW |
19 |
34,914,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1255:Kif20b
|
UTSW |
19 |
34,927,506 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1352:Kif20b
|
UTSW |
19 |
34,902,035 (GRCm39) |
missense |
probably benign |
|
|
R1466:Kif20b
|
UTSW |
19 |
34,927,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Kif20b
|
UTSW |
19 |
34,927,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1473:Kif20b
|
UTSW |
19 |
34,951,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1545:Kif20b
|
UTSW |
19 |
34,906,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Kif20b
|
UTSW |
19 |
34,914,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1648:Kif20b
|
UTSW |
19 |
34,914,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1752:Kif20b
|
UTSW |
19 |
34,915,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1835:Kif20b
|
UTSW |
19 |
34,933,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Kif20b
|
UTSW |
19 |
34,918,608 (GRCm39) |
unclassified |
probably benign |
|
|
R1937:Kif20b
|
UTSW |
19 |
34,930,278 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2112:Kif20b
|
UTSW |
19 |
34,909,132 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2315:Kif20b
|
UTSW |
19 |
34,908,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Kif20b
|
UTSW |
19 |
34,936,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2867:Kif20b
|
UTSW |
19 |
34,917,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Kif20b
|
UTSW |
19 |
34,917,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Kif20b
|
UTSW |
19 |
34,907,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Kif20b
|
UTSW |
19 |
34,947,480 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3407:Kif20b
|
UTSW |
19 |
34,927,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3834:Kif20b
|
UTSW |
19 |
34,912,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Kif20b
|
UTSW |
19 |
34,927,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Kif20b
|
UTSW |
19 |
34,928,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Kif20b
|
UTSW |
19 |
34,915,773 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4883:Kif20b
|
UTSW |
19 |
34,943,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4901:Kif20b
|
UTSW |
19 |
34,911,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4923:Kif20b
|
UTSW |
19 |
34,918,611 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5538:Kif20b
|
UTSW |
19 |
34,930,364 (GRCm39) |
nonsense |
probably null |
|
|
R5540:Kif20b
|
UTSW |
19 |
34,915,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5558:Kif20b
|
UTSW |
19 |
34,928,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Kif20b
|
UTSW |
19 |
34,927,128 (GRCm39) |
splice site |
probably null |
|
|
R5934:Kif20b
|
UTSW |
19 |
34,918,721 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6019:Kif20b
|
UTSW |
19 |
34,927,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6464:Kif20b
|
UTSW |
19 |
34,911,841 (GRCm39) |
missense |
probably benign |
|
|
R6613:Kif20b
|
UTSW |
19 |
34,914,384 (GRCm39) |
nonsense |
probably null |
|
|
R6745:Kif20b
|
UTSW |
19 |
34,906,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7097:Kif20b
|
UTSW |
19 |
34,951,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7237:Kif20b
|
UTSW |
19 |
34,928,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7373:Kif20b
|
UTSW |
19 |
34,913,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Kif20b
|
UTSW |
19 |
34,907,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7814:Kif20b
|
UTSW |
19 |
34,928,355 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7861:Kif20b
|
UTSW |
19 |
34,917,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Kif20b
|
UTSW |
19 |
34,917,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Kif20b
|
UTSW |
19 |
34,914,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8724:Kif20b
|
UTSW |
19 |
34,916,146 (GRCm39) |
unclassified |
probably benign |
|
|
R8849:Kif20b
|
UTSW |
19 |
34,915,716 (GRCm39) |
nonsense |
probably null |
|
|
R8947:Kif20b
|
UTSW |
19 |
34,918,629 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8998:Kif20b
|
UTSW |
19 |
34,914,253 (GRCm39) |
splice site |
probably benign |
|
|
R9017:Kif20b
|
UTSW |
19 |
34,927,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9245:Kif20b
|
UTSW |
19 |
34,915,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9613:Kif20b
|
UTSW |
19 |
34,919,934 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9619:Kif20b
|
UTSW |
19 |
34,933,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Kif20b
|
UTSW |
19 |
34,930,353 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9746:Kif20b
|
UTSW |
19 |
34,928,149 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Kif20b
|
UTSW |
19 |
34,927,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Kif20b
|
UTSW |
19 |
34,930,275 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Kif20b
|
UTSW |
19 |
34,927,866 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCCAGTTACAACAGTGC -3'
(R):5'- GGAAGCCTTCACAATCTCTTTAC -3'
Sequencing Primer
(F):5'- CAACAGTGCAGTTGCCGAG -3'
(R):5'- ACATTCTTCCCAGATGGCTTCAATAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation