Incidental Mutation 'R6407:Kif22'
| ID |
514495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif22
|
| Ensembl Gene |
ENSMUSG00000030677 |
| Gene Name |
kinesin family member 22 |
| Synonyms |
Kid, Kif22a |
| MMRRC Submission |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126626901-126641639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126632375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 312
(R312C)
|
| 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: R312C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
AA Change: R312C
| 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
|
| Meta Mutation Damage Score |
0.5041 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably damaging |
Het |
|
| Other mutations in Kif22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Kif22
|
APN |
7 |
126,632,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATGAGGATGCTATGAGCTG -3'
(R):5'- CCTAGGTAGATCAGCGTGAACG -3'
Sequencing Primer
(F):5'- AGGATGCTATGAGCTGAGCCTC -3'
(R):5'- AGATCAGCGTGAACGTTTGACTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation