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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ATP-synt 2 273 1.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114897
SMART Domains Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 27 297 6.8e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130067
SMART Domains Protein: ENSMUSP00000117182
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ATP-synt 2 171 1.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139810
SMART Domains Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
Pfam:ATP-synt 2 153 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145530
SMART Domains Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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