Incidental Mutation 'R9732:Kif20b'
| ID |
731514 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R9732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34930353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1286
(D1286G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: D1286G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: D1286G
| 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 benign
Transcript: ENSMUST00000223907
AA Change: D1246G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
AA Change: D21G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,258,446 (GRCm39) |
S1007T |
probably benign |
Het |
| Akap10 |
A |
T |
11: 61,787,545 (GRCm39) |
C466S |
probably damaging |
Het |
| Apol9b |
C |
T |
15: 77,619,566 (GRCm39) |
P121S |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,743,438 (GRCm39) |
Y26N |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,528,297 (GRCm39) |
T346I |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,090,031 (GRCm39) |
I628T |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,775,446 (GRCm39) |
S609P |
probably damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,951 (GRCm39) |
G132S |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,199,516 (GRCm39) |
F253L |
probably benign |
Het |
| Cyp2t4 |
C |
T |
7: 26,854,657 (GRCm39) |
P46S |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,763,911 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
A |
10: 76,110,077 (GRCm39) |
I1180L |
probably benign |
Het |
| Dpp8 |
G |
T |
9: 64,970,862 (GRCm39) |
|
probably null |
Het |
| Efr3a |
T |
A |
15: 65,720,139 (GRCm39) |
N378K |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,373 (GRCm39) |
T237I |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,727,065 (GRCm39) |
S459T |
probably benign |
Het |
| Fam81b |
G |
A |
13: 76,399,985 (GRCm39) |
T91I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,328,758 (GRCm39) |
E1297G |
probably benign |
Het |
| Gm11110 |
G |
A |
17: 57,410,382 (GRCm39) |
L39F |
unknown |
Het |
| Gm3233 |
G |
T |
10: 77,595,147 (GRCm39) |
Q124K |
unknown |
Het |
| Gm7145 |
C |
G |
1: 117,913,839 (GRCm39) |
H240Q |
probably benign |
Het |
| Gnrh1 |
G |
T |
14: 67,985,316 (GRCm39) |
R67L |
possibly damaging |
Het |
| Grip2 |
T |
A |
6: 91,761,686 (GRCm39) |
E236V |
probably damaging |
Het |
| H3c10 |
A |
T |
13: 21,902,186 (GRCm39) |
I120F |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,392,254 (GRCm39) |
E173* |
probably null |
Het |
| Hgf |
T |
A |
5: 16,820,748 (GRCm39) |
L632I |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,843,652 (GRCm39) |
V255A |
probably benign |
Het |
| Jmjd4 |
G |
T |
11: 59,341,339 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
C |
A |
15: 68,885,212 (GRCm39) |
N71K |
probably damaging |
Het |
| Lpin3 |
T |
A |
2: 160,734,196 (GRCm39) |
L27Q |
probably damaging |
Het |
| Macroh2a1 |
G |
C |
13: 56,243,976 (GRCm39) |
F183L |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,033,637 (GRCm39) |
F184I |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,959,425 (GRCm39) |
D237V |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,448,749 (GRCm39) |
D1803G |
probably damaging |
Het |
| Ncoa6 |
T |
G |
2: 155,244,636 (GRCm39) |
K1978T |
probably damaging |
Het |
| Nkain4 |
G |
A |
2: 180,585,901 (GRCm39) |
T54I |
probably damaging |
Het |
| Olig3 |
G |
A |
10: 19,233,151 (GRCm39) |
A259T |
probably benign |
Het |
| Or5w14 |
T |
C |
2: 87,541,489 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pacs1 |
A |
G |
19: 5,184,997 (GRCm39) |
W943R |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,138,797 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Polh |
A |
T |
17: 46,498,997 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptprq |
G |
C |
10: 107,412,767 (GRCm39) |
C1777W |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,476,740 (GRCm39) |
V127E |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,152,931 (GRCm39) |
S84P |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,562,406 (GRCm39) |
T321A |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 149,993,767 (GRCm39) |
A620T |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,381,863 (GRCm39) |
E155G |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,526,167 (GRCm39) |
H107Y |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,438,942 (GRCm39) |
D471E |
probably benign |
Het |
| Sema6a |
T |
A |
18: 47,381,925 (GRCm39) |
N874I |
probably damaging |
Het |
| Serinc4 |
C |
A |
2: 121,283,631 (GRCm39) |
W283L |
possibly damaging |
Het |
| Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,458,591 (GRCm39) |
S524C |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,135,086 (GRCm39) |
S1042R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,736,212 (GRCm39) |
V190D |
probably damaging |
Het |
| Sub1 |
T |
A |
15: 11,986,650 (GRCm39) |
I66F |
possibly damaging |
Het |
| Svop |
G |
A |
5: 114,201,142 (GRCm39) |
P109S |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,761,414 (GRCm39) |
P684L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,652 (GRCm39) |
V670A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,088,162 (GRCm39) |
I792V |
probably benign |
Het |
| Tex22 |
A |
G |
12: 113,052,196 (GRCm39) |
T85A |
possibly damaging |
Het |
| Tmem151a |
C |
T |
19: 5,131,937 (GRCm39) |
S423N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,727 (GRCm39) |
W685R |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,640,391 (GRCm39) |
F436L |
probably benign |
Het |
| Trim55 |
A |
T |
3: 19,716,039 (GRCm39) |
I200F |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,603,862 (GRCm39) |
R186* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,775,335 (GRCm39) |
C1677Y |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,769,206 (GRCm39) |
V2831I |
unknown |
Het |
| Tyrp1 |
T |
A |
4: 80,758,930 (GRCm39) |
S268T |
possibly damaging |
Het |
| Unc5d |
C |
T |
8: 29,381,319 (GRCm39) |
|
probably null |
Het |
| Usb1 |
G |
T |
8: 96,065,375 (GRCm39) |
V129L |
probably damaging |
Het |
| Usp22 |
G |
A |
11: 61,051,437 (GRCm39) |
T302M |
probably damaging |
Het |
| Vmn1r210 |
C |
A |
13: 23,011,379 (GRCm39) |
L302F |
possibly damaging |
Het |
| Zfp689 |
C |
A |
7: 127,044,283 (GRCm39) |
E116* |
probably null |
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 |
|
R7260:Kif20b
|
UTSW |
19 |
34,927,610 (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 |
|
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'- GACATATTCCCTGAAGACATGACTTC -3'
(R):5'- ATCTGGACTATCATAACACTCTCTC -3'
Sequencing Primer
(F):5'- GTAGGTATCTGTAATGCGTGA -3'
(R):5'- TGAGGTCAATGCCAGTCTAGACTAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation