Incidental Mutation 'IGL01731:Khdrbs1'
ID 105491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khdrbs1
Ensembl Gene ENSMUSG00000028790
Gene Name KH domain containing, RNA binding, signal transduction associated 1
Synonyms p62, Sam68
Accession Numbers
Essential gene? Possibly essential (E-score: 0.705) question?
Stock # IGL01731
Quality Score
Status
Chromosome 4
Chromosomal Location 129596957-129636096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129619462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 226 (D226E)
Ref Sequence ENSEMBL: ENSMUSP00000115402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066257] [ENSMUST00000129342]
AlphaFold Q60749
Predicted Effect probably benign
Transcript: ENSMUST00000066257
AA Change: D226E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: D226E

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: D226E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: D226E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,762,711 (GRCm39) probably benign Het
Abca13 T C 11: 9,199,749 (GRCm39) probably benign Het
Abcc6 G A 7: 45,652,034 (GRCm39) P611L possibly damaging Het
Acsl6 A G 11: 54,241,385 (GRCm39) E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 (GRCm39) F337L possibly damaging Het
Alg1 C T 16: 5,062,383 (GRCm39) R422C probably benign Het
Ankrd23 A G 1: 36,573,147 (GRCm39) L75S probably damaging Het
Arid5b T C 10: 67,933,439 (GRCm39) H578R probably damaging Het
Atp10a G T 7: 58,447,310 (GRCm39) W684L probably benign Het
Bzw2 T C 12: 36,157,647 (GRCm39) probably null Het
C2cd2 A T 16: 97,671,372 (GRCm39) I509K probably damaging Het
Card11 T C 5: 140,868,057 (GRCm39) T864A possibly damaging Het
Ces1f A G 8: 93,993,948 (GRCm39) S278P possibly damaging Het
Chd8 T C 14: 52,450,111 (GRCm39) I208V probably benign Het
Cstf2t T C 19: 31,061,738 (GRCm39) S425P probably benign Het
Cxcl1 A G 5: 91,039,436 (GRCm39) T60A probably benign Het
Diaph1 G T 18: 37,986,762 (GRCm39) probably benign Het
Dnai4 T C 4: 102,919,632 (GRCm39) I139V probably benign Het
Exoc3l T G 8: 106,019,587 (GRCm39) K394T probably benign Het
Fabp4 T C 3: 10,270,293 (GRCm39) probably benign Het
Fam234b T A 6: 135,188,903 (GRCm39) F169L possibly damaging Het
Hectd1 C A 12: 51,849,593 (GRCm39) D204Y possibly damaging Het
Hephl1 A T 9: 14,981,066 (GRCm39) Y789N probably damaging Het
Igfbp6 C A 15: 102,053,252 (GRCm39) N90K probably benign Het
Lipo4 T A 19: 33,490,013 (GRCm39) Q163L probably damaging Het
Med13l T C 5: 118,880,472 (GRCm39) I1188T probably benign Het
Mki67 T C 7: 135,298,278 (GRCm39) E2252G probably benign Het
Nepn G T 10: 52,276,660 (GRCm39) R132L probably benign Het
Nlrp9b T A 7: 19,757,342 (GRCm39) L193* probably null Het
Ntn1 A G 11: 68,276,244 (GRCm39) S235P probably damaging Het
Nup210l G T 3: 90,061,873 (GRCm39) R684L probably damaging Het
Obi1 T C 14: 104,716,738 (GRCm39) D545G probably damaging Het
Obp2b A G 2: 25,629,293 (GRCm39) S154G possibly damaging Het
Or10ag59 A G 2: 87,406,282 (GRCm39) T285A probably benign Het
Or4f57 A G 2: 111,790,980 (GRCm39) V146A probably benign Het
Or51b6b T A 7: 103,310,053 (GRCm39) T135S probably benign Het
Or5p1 A T 7: 107,916,682 (GRCm39) I194F probably benign Het
Polr3b A T 10: 84,467,704 (GRCm39) R95* probably null Het
Prelid2 C T 18: 42,070,714 (GRCm39) V40M probably benign Het
Ptprb T G 10: 116,208,781 (GRCm39) L2205R probably damaging Het
R3hcc1l T C 19: 42,551,240 (GRCm39) V79A probably benign Het
Stam2 A G 2: 52,598,162 (GRCm39) I259T probably damaging Het
Tdpoz4 A T 3: 93,704,189 (GRCm39) N162I possibly damaging Het
Tuba3a A G 6: 125,259,721 (GRCm39) V75A possibly damaging Het
Vmn2r73 A T 7: 85,506,757 (GRCm39) *852K probably null Het
Zfp7 C T 15: 76,772,505 (GRCm39) Q69* probably null Het
Zfp865 G T 7: 5,032,875 (GRCm39) A287S probably benign Het
Zmpste24 T A 4: 120,955,081 (GRCm39) Q39L probably benign Het
Other mutations in Khdrbs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01801:Khdrbs1 APN 4 129,635,574 (GRCm39) missense probably benign
IGL03163:Khdrbs1 APN 4 129,619,508 (GRCm39) missense probably benign 0.40
R1163:Khdrbs1 UTSW 4 129,619,379 (GRCm39) missense possibly damaging 0.48
R1350:Khdrbs1 UTSW 4 129,614,545 (GRCm39) missense probably benign
R2059:Khdrbs1 UTSW 4 129,619,514 (GRCm39) missense probably damaging 1.00
R2192:Khdrbs1 UTSW 4 129,613,830 (GRCm39) critical splice donor site probably null
R2518:Khdrbs1 UTSW 4 129,614,540 (GRCm39) missense probably benign
R3000:Khdrbs1 UTSW 4 129,619,456 (GRCm39) missense probably damaging 1.00
R3552:Khdrbs1 UTSW 4 129,614,584 (GRCm39) missense possibly damaging 0.86
R4402:Khdrbs1 UTSW 4 129,635,889 (GRCm39) missense possibly damaging 0.93
R4623:Khdrbs1 UTSW 4 129,614,635 (GRCm39) missense probably benign 0.07
R5138:Khdrbs1 UTSW 4 129,635,647 (GRCm39) missense probably benign 0.13
R5384:Khdrbs1 UTSW 4 129,635,729 (GRCm39) missense possibly damaging 0.70
R5863:Khdrbs1 UTSW 4 129,616,493 (GRCm39) missense probably damaging 0.99
R5897:Khdrbs1 UTSW 4 129,614,448 (GRCm39) missense probably benign
R6018:Khdrbs1 UTSW 4 129,613,887 (GRCm39) missense probably benign
R6153:Khdrbs1 UTSW 4 129,609,965 (GRCm39) missense probably damaging 0.99
R6185:Khdrbs1 UTSW 4 129,636,068 (GRCm39) start gained probably benign
R6377:Khdrbs1 UTSW 4 129,635,890 (GRCm39) missense probably damaging 0.98
R6983:Khdrbs1 UTSW 4 129,614,635 (GRCm39) missense probably benign 0.07
Posted On 2014-01-21