Incidental Mutation 'IGL00898:Kin'
ID |
278049 |
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 # |
IGL00898
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
10085362-10097512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10085515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 25
(R25H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026887]
[ENSMUST00000042512]
[ENSMUST00000114896]
[ENSMUST00000114897]
[ENSMUST00000130067]
[ENSMUST00000153554]
[ENSMUST00000139810]
[ENSMUST00000145530]
|
AlphaFold |
Q8K339 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026887
|
SMART Domains |
Protein: ENSMUSP00000026887 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
26 |
297 |
1.7e-79 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042512
AA Change: R25H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043614 Gene: ENSMUSG00000037262 AA Change: R25H
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: ENSMUST00000104545
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114896
|
SMART Domains |
Protein: ENSMUSP00000110546 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
2 |
273 |
1.2e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114897
|
SMART Domains |
Protein: ENSMUSP00000110547 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
27 |
297 |
6.8e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130067
|
SMART Domains |
Protein: ENSMUSP00000117182 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
2 |
101 |
2.1e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142599
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153554
|
SMART Domains |
Protein: ENSMUSP00000116368 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
2 |
171 |
1.2e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139810
|
SMART Domains |
Protein: ENSMUSP00000123100 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
2 |
153 |
6.1e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145530
|
SMART Domains |
Protein: ENSMUSP00000116508 Gene: ENSMUSG00000025781
Domain | Start | End | E-Value | Type |
Pfam:ATP-synt
|
2 |
187 |
1.2e-45 |
PFAM |
|
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 |
Abcb1a |
G |
A |
5: 8,783,690 (GRCm39) |
G956S |
probably damaging |
Het |
Alpk2 |
G |
T |
18: 65,483,644 (GRCm39) |
D121E |
probably benign |
Het |
Apc |
A |
G |
18: 34,450,147 (GRCm39) |
T2314A |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,636,810 (GRCm39) |
L990P |
probably damaging |
Het |
Ccar1 |
T |
A |
10: 62,589,013 (GRCm39) |
K823N |
unknown |
Het |
Celsr2 |
C |
T |
3: 108,321,195 (GRCm39) |
R539H |
possibly damaging |
Het |
Clca3b |
A |
G |
3: 144,550,389 (GRCm39) |
|
probably benign |
Het |
Cpxcr1 |
T |
C |
X: 115,387,407 (GRCm39) |
L106S |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,607,755 (GRCm39) |
L16Q |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,941 (GRCm39) |
E808G |
probably damaging |
Het |
Epha6 |
A |
T |
16: 59,595,904 (GRCm39) |
|
probably null |
Het |
Epha7 |
G |
A |
4: 28,938,693 (GRCm39) |
R516Q |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,152,774 (GRCm39) |
S1077P |
probably benign |
Het |
Gm4952 |
C |
T |
19: 12,595,772 (GRCm39) |
T54I |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Il1b |
T |
C |
2: 129,209,253 (GRCm39) |
R126G |
possibly damaging |
Het |
Lamb3 |
A |
T |
1: 193,021,191 (GRCm39) |
T923S |
possibly damaging |
Het |
Lrp6 |
C |
T |
6: 134,456,702 (GRCm39) |
S854N |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,058,031 (GRCm39) |
F258L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,306,159 (GRCm39) |
S91P |
probably benign |
Het |
Msra |
A |
G |
14: 64,360,774 (GRCm39) |
I125T |
probably damaging |
Het |
Nr0b1 |
A |
T |
X: 85,236,077 (GRCm39) |
Q224L |
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,444,449 (GRCm39) |
D220V |
probably damaging |
Het |
Nup160 |
C |
A |
2: 90,523,450 (GRCm39) |
H351Q |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,282 (GRCm39) |
M220L |
probably benign |
Het |
Pcdh12 |
C |
A |
18: 38,414,510 (GRCm39) |
V872L |
probably benign |
Het |
Pcnx2 |
T |
A |
8: 126,614,324 (GRCm39) |
S376C |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,631,001 (GRCm39) |
E475G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,458,392 (GRCm39) |
Y322C |
probably damaging |
Het |
Rgl2 |
T |
C |
17: 34,152,392 (GRCm39) |
I363T |
possibly damaging |
Het |
Rimklb |
G |
T |
6: 122,433,590 (GRCm39) |
Q187K |
possibly damaging |
Het |
Sectm1b |
A |
T |
11: 120,947,075 (GRCm39) |
W17R |
probably damaging |
Het |
Snu13 |
C |
A |
15: 81,926,516 (GRCm39) |
A60S |
probably benign |
Het |
Sox30 |
T |
A |
11: 45,882,727 (GRCm39) |
F586I |
possibly damaging |
Het |
Tnfsfm13 |
C |
A |
11: 69,575,127 (GRCm39) |
V220L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,593,117 (GRCm39) |
V20711E |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,604,969 (GRCm39) |
N94S |
possibly damaging |
Het |
Yipf2 |
T |
C |
9: 21,503,820 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
C |
11: 72,765,999 (GRCm39) |
S1509P |
probably benign |
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 |
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 |
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 |
2015-04-16 |