Incidental Mutation 'IGL00569:Khsrp'
ID11606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khsrp
Ensembl Gene ENSMUSG00000007670
Gene NameKH-type splicing regulatory protein
Synonyms6330409F21Rik, KSRP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00569
Quality Score
Status
Chromosome17
Chromosomal Location57021058-57031507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57023092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 646 (T646A)
Ref Sequence ENSEMBL: ENSMUSP00000007814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007814] [ENSMUST00000210548]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007814
AA Change: T646A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: T646A

DomainStartEndE-ValueType
low complexity region 7 69 N/A INTRINSIC
KH 144 214 1.46e-18 SMART
KH 233 305 2.46e-16 SMART
KH 322 392 7.87e-15 SMART
KH 424 497 3.29e-17 SMART
low complexity region 498 547 N/A INTRINSIC
low complexity region 557 579 N/A INTRINSIC
Pfam:DUF1897 610 636 1.8e-8 PFAM
Pfam:DUF1897 666 688 8.5e-10 PFAM
low complexity region 691 710 N/A INTRINSIC
low complexity region 717 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210548
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to HSV-1 infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik A T 7: 29,534,140 noncoding transcript Het
Abca6 T G 11: 110,187,049 N1311H possibly damaging Het
Apol8 C T 15: 77,750,055 R107H probably benign Het
Cacna1a T A 8: 84,462,714 I98N probably damaging Het
Clps T A 17: 28,560,662 probably benign Het
Dcc T A 18: 71,384,225 probably null Het
Dock10 A G 1: 80,585,012 F544L probably damaging Het
Eif2ak2 A T 17: 78,869,483 S218T probably benign Het
Faf1 T C 4: 109,961,880 *650Q probably null Het
Fxn A T 19: 24,267,350 I142N probably damaging Het
Gm10610 A T 7: 83,549,570 noncoding transcript Het
Gm9774 T C 3: 92,428,400 T332A probably benign Het
Hspa1l C T 17: 34,977,465 T160I probably damaging Het
Kcng4 A G 8: 119,626,331 V280A probably benign Het
Lilra6 A G 7: 3,914,589 S136P probably damaging Het
Lmo7 T G 14: 101,887,051 N315K probably damaging Het
Map3k5 A G 10: 19,935,044 T147A possibly damaging Het
Mical3 T C 6: 120,961,624 E1134G possibly damaging Het
Nek3 A G 8: 22,158,706 L103P probably damaging Het
Nudt17 G T 3: 96,707,027 P222Q probably damaging Het
Pla2r1 G T 2: 60,420,425 T1386K probably benign Het
Ptpn13 A G 5: 103,591,006 probably benign Het
Rgl1 A C 1: 152,571,617 S134A probably benign Het
Rnls T A 19: 33,168,488 E195V probably benign Het
Sall4 T C 2: 168,755,312 N536S probably benign Het
Serinc3 G T 2: 163,628,001 P309Q probably damaging Het
Smc5 G A 19: 23,235,965 R528C probably damaging Het
Stxbp3-ps A T 19: 9,557,822 noncoding transcript Het
Tmem67 T A 4: 12,061,826 I549L probably damaging Het
Trank1 C A 9: 111,345,511 H269N possibly damaging Het
Other mutations in Khsrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0973:Khsrp UTSW 17 57025576 missense probably benign
R0973:Khsrp UTSW 17 57025576 missense probably benign
R0974:Khsrp UTSW 17 57025576 missense probably benign
R0975:Khsrp UTSW 17 57027066 missense possibly damaging 0.68
R1080:Khsrp UTSW 17 57024410 frame shift probably null
R1561:Khsrp UTSW 17 57025639 missense probably benign 0.01
R1686:Khsrp UTSW 17 57025597 missense probably benign 0.32
R2133:Khsrp UTSW 17 57027832 missense probably benign 0.17
R2134:Khsrp UTSW 17 57024410 frame shift probably null
R4133:Khsrp UTSW 17 57025605 missense probably benign 0.00
R4819:Khsrp UTSW 17 57023360 missense possibly damaging 0.93
R5213:Khsrp UTSW 17 57024366 missense probably benign 0.17
R5372:Khsrp UTSW 17 57024292 missense possibly damaging 0.95
R6246:Khsrp UTSW 17 57025324 missense possibly damaging 0.45
R6528:Khsrp UTSW 17 57023543 missense probably damaging 0.99
R7071:Khsrp UTSW 17 57025386 missense possibly damaging 0.55
R7141:Khsrp UTSW 17 57025602 missense possibly damaging 0.85
Z1088:Khsrp UTSW 17 57024249 missense probably damaging 0.96
Posted On2012-12-06