Incidental Mutation 'IGL01289:Kif22'
| ID |
72857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif22
|
| Ensembl Gene |
ENSMUSG00000030677 |
| Gene Name |
kinesin family member 22 |
| Synonyms |
Kid, Kif22a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126626901-126641639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126632645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032915]
[ENSMUST00000205806]
|
| AlphaFold |
Q3V300 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032915
AA Change: V247A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
36 |
371 |
1.12e-140 |
SMART |
|
low complexity region
|
399 |
428 |
N/A |
INTRINSIC |
|
coiled coil region
|
460 |
496 |
N/A |
INTRINSIC |
|
HhH1
|
597 |
616 |
2.16e0 |
SMART |
|
HhH1
|
627 |
646 |
8.65e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206924
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to implantation due to defective meiosis II and early embryo mitosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Kif22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Kif22
|
APN |
7 |
126,633,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Kif22
|
UTSW |
7 |
126,641,572 (GRCm39) |
start codon destroyed |
probably null |
0.73 |
|
R0723:Kif22
|
UTSW |
7 |
126,633,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Kif22
|
UTSW |
7 |
126,631,916 (GRCm39) |
missense |
probably benign |
|
|
R1521:Kif22
|
UTSW |
7 |
126,627,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2036:Kif22
|
UTSW |
7 |
126,630,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2092:Kif22
|
UTSW |
7 |
126,632,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3790:Kif22
|
UTSW |
7 |
126,628,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Kif22
|
UTSW |
7 |
126,632,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4667:Kif22
|
UTSW |
7 |
126,632,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Kif22
|
UTSW |
7 |
126,632,549 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5853:Kif22
|
UTSW |
7 |
126,632,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6045:Kif22
|
UTSW |
7 |
126,630,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6175:Kif22
|
UTSW |
7 |
126,630,228 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6195:Kif22
|
UTSW |
7 |
126,628,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6407:Kif22
|
UTSW |
7 |
126,632,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Kif22
|
UTSW |
7 |
126,628,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6561:Kif22
|
UTSW |
7 |
126,630,225 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7122:Kif22
|
UTSW |
7 |
126,632,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7644:Kif22
|
UTSW |
7 |
126,632,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Kif22
|
UTSW |
7 |
126,632,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation