Incidental Mutation 'IGL00971:Kin'
| ID |
27004 |
| 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 # |
IGL00971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10085362-10097512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10095159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 121
(W121R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000042512
AA Change: W121R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
AA Change: W121R
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
| Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
| Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
| Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
| Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
| Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
| Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
| Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
| Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
| Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
| Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
| Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
| Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
| Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
| Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
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 |
|
IGL01570:Kin
|
APN |
2 |
10,096,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2013-04-17 |
Incidental Mutation