Incidental Mutation 'IGL01570:Kin'
| ID |
91114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kin
|
| Ensembl Gene |
ENSMUSG00000037262 |
| Gene Name |
Kin17 DNA and RNA binding protein |
| Synonyms |
antigenic determinant of rec-A protein, Kin17 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL01570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10085362-10097512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10096763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 204
(T204M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000042512]
|
| AlphaFold |
Q8K339 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042290
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
VIT
|
60 |
189 |
4.35e-77 |
SMART |
|
VWA
|
312 |
498 |
6.6e-32 |
SMART |
|
Pfam:ITI_HC_C
|
740 |
925 |
1.7e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042512
AA Change: T204M
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
AA Change: T204M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
26 |
50 |
2.35e1 |
SMART |
|
Kin17_mid
|
52 |
178 |
5.41e-89 |
SMART |
|
low complexity region
|
209 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
300 |
N/A |
INTRINSIC |
|
KOW
|
334 |
361 |
1.97e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142773
|
| 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 nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,378,748 (GRCm39) |
S54P |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
| Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
| Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
| Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
| Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,219 (GRCm39) |
F273I |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
| Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
| Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
| Pdzk1ip1 |
C |
T |
4: 114,946,214 (GRCm39) |
P25S |
possibly damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,843 (GRCm39) |
V73D |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
probably damaging |
Het |
|
| Other mutations in Kin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Kin
|
APN |
2 |
10,085,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00898:Kin
|
APN |
2 |
10,085,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00907:Kin
|
APN |
2 |
10,085,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00907:Kin
|
APN |
2 |
10,085,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00941:Kin
|
APN |
2 |
10,085,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00941:Kin
|
APN |
2 |
10,085,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00971:Kin
|
APN |
2 |
10,095,159 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0090:Kin
|
UTSW |
2 |
10,090,584 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0656:Kin
|
UTSW |
2 |
10,090,531 (GRCm39) |
splice site |
probably benign |
|
|
R0827:Kin
|
UTSW |
2 |
10,095,187 (GRCm39) |
splice site |
probably benign |
|
|
R1530:Kin
|
UTSW |
2 |
10,097,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Kin
|
UTSW |
2 |
10,085,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6728:Kin
|
UTSW |
2 |
10,094,959 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7191:Kin
|
UTSW |
2 |
10,096,604 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7209:Kin
|
UTSW |
2 |
10,096,564 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7242:Kin
|
UTSW |
2 |
10,096,604 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7650:Kin
|
UTSW |
2 |
10,096,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9501:Kin
|
UTSW |
2 |
10,085,478 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2013-12-09 |
Incidental Mutation