Incidental Mutation 'R6728:Kin'
| ID |
529934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kin
|
| Ensembl Gene |
ENSMUSG00000037262 |
| Gene Name |
Kin17 DNA and RNA binding protein |
| Synonyms |
antigenic determinant of rec-A protein, Kin17 |
| MMRRC Submission |
044846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
10085362-10097512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10094959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 82
(R82Q)
|
| 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: R82Q
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
AA Change: R82Q
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,977,535 (GRCm39) |
V356E |
possibly damaging |
Het |
| Agmat |
G |
T |
4: 141,476,897 (GRCm39) |
C101F |
probably benign |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,779 (GRCm39) |
S596P |
possibly damaging |
Het |
| Atl1 |
T |
C |
12: 69,994,324 (GRCm39) |
V276A |
possibly damaging |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Camk4 |
A |
T |
18: 33,317,992 (GRCm39) |
E383V |
probably benign |
Het |
| Cap2 |
G |
A |
13: 46,793,335 (GRCm39) |
E234K |
possibly damaging |
Het |
| Col24a1 |
A |
T |
3: 145,020,957 (GRCm39) |
M443L |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,657,673 (GRCm39) |
V293A |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,664 (GRCm39) |
S1162P |
probably benign |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Ninl |
G |
T |
2: 150,817,777 (GRCm39) |
S129* |
probably null |
Het |
| Or11h4 |
T |
C |
14: 50,974,296 (GRCm39) |
T108A |
possibly damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,018 (GRCm39) |
D231E |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Platr25 |
G |
A |
13: 62,848,197 (GRCm39) |
H222Y |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,554,171 (GRCm39) |
S94Y |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,011,737 (GRCm39) |
Y722H |
probably benign |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Thsd4 |
T |
C |
9: 59,904,480 (GRCm39) |
D572G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,802,727 (GRCm39) |
L1510H |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,840,098 (GRCm39) |
S433P |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,639,057 (GRCm39) |
V401A |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,196,453 (GRCm39) |
M27V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCCAATCTTCGCAGATC -3'
(R):5'- AAAGTCGGTCAGTGTCTCCC -3'
Sequencing Primer
(F):5'- AAAGCCAATCTTCGCAGATCTTTCTC -3'
(R):5'- TCCCACTGGGTAGCGTTCATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation