Incidental Mutation 'R0973:Khsrp'
ID 82980
Institutional Source Beutler Lab
Gene Symbol Khsrp
Ensembl Gene ENSMUSG00000007670
Gene Name KH-type splicing regulatory protein
Synonyms 6330409F21Rik, KSRP
MMRRC Submission 039102-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0973 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57328049-57338507 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57332576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 235 (T235A)
Ref Sequence ENSEMBL: ENSMUSP00000007814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007814] [ENSMUST00000210548]
AlphaFold Q3U0V1
Predicted Effect probably benign
Transcript: ENSMUST00000007814
AA Change: T235A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: T235A

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
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (70/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Asic5 C T 3: 81,915,755 (GRCm39) probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Cep250 A G 2: 155,806,209 (GRCm39) probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm12500 T C 3: 107,993,792 (GRCm39) probably null Het
Gm6327 T C 16: 12,578,977 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Ift172 T C 5: 31,415,262 (GRCm39) probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lgals8 A T 13: 12,466,276 (GRCm39) probably benign Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mcpt8 T C 14: 56,321,257 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Naa25 T C 5: 121,576,779 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Pm20d2 T A 4: 33,174,734 (GRCm39) probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Skint1 T G 4: 111,885,412 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spag7 A G 11: 70,560,008 (GRCm39) probably benign Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H probably damaging Het
Other mutations in Khsrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Khsrp APN 17 57,330,092 (GRCm39) missense possibly damaging 0.49
R0973:Khsrp UTSW 17 57,332,576 (GRCm39) missense probably benign
R0974:Khsrp UTSW 17 57,332,576 (GRCm39) missense probably benign
R0975:Khsrp UTSW 17 57,334,066 (GRCm39) missense possibly damaging 0.68
R1080:Khsrp UTSW 17 57,331,410 (GRCm39) frame shift probably null
R1561:Khsrp UTSW 17 57,332,639 (GRCm39) missense probably benign 0.01
R1686:Khsrp UTSW 17 57,332,597 (GRCm39) missense probably benign 0.32
R2133:Khsrp UTSW 17 57,334,832 (GRCm39) missense probably benign 0.17
R2134:Khsrp UTSW 17 57,331,410 (GRCm39) frame shift probably null
R4133:Khsrp UTSW 17 57,332,605 (GRCm39) missense probably benign 0.00
R4819:Khsrp UTSW 17 57,330,360 (GRCm39) missense possibly damaging 0.93
R5213:Khsrp UTSW 17 57,331,366 (GRCm39) missense probably benign 0.17
R5372:Khsrp UTSW 17 57,331,292 (GRCm39) missense possibly damaging 0.95
R6246:Khsrp UTSW 17 57,332,324 (GRCm39) missense possibly damaging 0.45
R6528:Khsrp UTSW 17 57,330,543 (GRCm39) missense probably damaging 0.99
R7071:Khsrp UTSW 17 57,332,386 (GRCm39) missense possibly damaging 0.55
R7141:Khsrp UTSW 17 57,332,602 (GRCm39) missense possibly damaging 0.85
R8282:Khsrp UTSW 17 57,331,123 (GRCm39) missense probably damaging 0.98
R9393:Khsrp UTSW 17 57,330,350 (GRCm39) missense probably damaging 1.00
R9759:Khsrp UTSW 17 57,332,925 (GRCm39) missense probably benign 0.25
Z1088:Khsrp UTSW 17 57,331,249 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTCCTGCAATGTAAGTGCCTGTC -3'
(R):5'- CACCTATGTGTGTCCTTCCCACAAG -3'

Sequencing Primer
(F):5'- CCTGTCAGAGGCAGTCTTG -3'
(R):5'- TGAACAGCCCAGGTCCTTTG -3'
Posted On 2013-11-08