Incidental Mutation 'IGL03163:Khdrbs1'
ID411522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khdrbs1
Ensembl Gene ENSMUSG00000028790
Gene NameKH domain containing, RNA binding, signal transduction associated 1
SynonymsSam68, p62
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.594) question?
Stock #IGL03163
Quality Score
Status
Chromosome4
Chromosomal Location129703164-129742303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129725715 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 211 (E211G)
Ref Sequence ENSEMBL: ENSMUSP00000115402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066257] [ENSMUST00000129342]
Predicted Effect probably benign
Transcript: ENSMUST00000066257
AA Change: E211G

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: E211G

DomainStartEndE-ValueType
low complexity region 34 74 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
KH 154 252 6.91e-11 SMART
low complexity region 281 316 N/A INTRINSIC
low complexity region 326 351 N/A INTRINSIC
Pfam:Sam68-YY 366 415 1.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129342
AA Change: E211G

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: E211G

DomainStartEndE-ValueType
low complexity region 34 74 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
KH 154 252 6.91e-11 SMART
low complexity region 281 316 N/A INTRINSIC
low complexity region 326 351 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
low complexity region 377 397 N/A INTRINSIC
PDB:3QHE|D 398 419 3e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139281
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,181,417 D393V probably benign Het
Amz2 C A 11: 109,428,925 Q46K probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Atxn1l T C 8: 109,732,385 N415S probably damaging Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rangap1 A T 15: 81,716,600 N194K probably damaging Het
Rasgef1c T C 11: 49,971,373 V363A possibly damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Stra6l T C 4: 45,881,455 I439T probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Khdrbs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Khdrbs1 APN 4 129725669 missense probably benign 0.00
IGL01801:Khdrbs1 APN 4 129741781 missense probably benign
R1163:Khdrbs1 UTSW 4 129725586 missense possibly damaging 0.48
R1350:Khdrbs1 UTSW 4 129720752 missense probably benign
R2059:Khdrbs1 UTSW 4 129725721 missense probably damaging 1.00
R2192:Khdrbs1 UTSW 4 129720037 critical splice donor site probably null
R2518:Khdrbs1 UTSW 4 129720747 missense probably benign
R3000:Khdrbs1 UTSW 4 129725663 missense probably damaging 1.00
R3552:Khdrbs1 UTSW 4 129720791 missense possibly damaging 0.86
R4402:Khdrbs1 UTSW 4 129742096 missense possibly damaging 0.93
R4623:Khdrbs1 UTSW 4 129720842 missense probably benign 0.07
R5138:Khdrbs1 UTSW 4 129741854 missense probably benign 0.13
R5384:Khdrbs1 UTSW 4 129741936 missense possibly damaging 0.70
R5863:Khdrbs1 UTSW 4 129722700 missense probably damaging 0.99
R5897:Khdrbs1 UTSW 4 129720655 missense probably benign
R6018:Khdrbs1 UTSW 4 129720094 missense probably benign
R6153:Khdrbs1 UTSW 4 129716172 missense probably damaging 0.99
R6185:Khdrbs1 UTSW 4 129742275 start gained probably benign
R6377:Khdrbs1 UTSW 4 129742097 missense probably damaging 0.98
R6983:Khdrbs1 UTSW 4 129720842 missense probably benign 0.07
Posted On2016-08-02