Incidental Mutation 'IGL03334:Krr1'
ID 416970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krr1
Ensembl Gene ENSMUSG00000063334
Gene Name KRR1, small subunit (SSU) processome component, homolog (yeast)
Synonyms Hrb2, D10Ertd773e, 2610511F02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL03334
Quality Score
Status
Chromosome 10
Chromosomal Location 111808600-111824335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 111815959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 275 (S275R)
Ref Sequence ENSEMBL: ENSMUSP00000125746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163048] [ENSMUST00000174653]
AlphaFold Q8BGA5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162678
Predicted Effect probably benign
Transcript: ENSMUST00000163048
AA Change: S275R

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334
AA Change: S275R

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 246 264 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
low complexity region 339 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174653
SMART Domains Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 265 277 N/A INTRINSIC
low complexity region 282 306 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I possibly damaging Het
Other mutations in Krr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
curtains UTSW 10 111,811,504 (GRCm39) missense probably damaging 1.00
R0452:Krr1 UTSW 10 111,811,503 (GRCm39) missense probably damaging 1.00
R1196:Krr1 UTSW 10 111,811,562 (GRCm39) missense probably benign 0.33
R2010:Krr1 UTSW 10 111,811,474 (GRCm39) missense possibly damaging 0.94
R2084:Krr1 UTSW 10 111,812,690 (GRCm39) missense probably damaging 1.00
R4606:Krr1 UTSW 10 111,811,582 (GRCm39) intron probably benign
R4860:Krr1 UTSW 10 111,821,596 (GRCm39) unclassified probably benign
R5652:Krr1 UTSW 10 111,813,288 (GRCm39) missense possibly damaging 0.77
R7657:Krr1 UTSW 10 111,811,504 (GRCm39) missense probably damaging 1.00
R8215:Krr1 UTSW 10 111,815,834 (GRCm39) nonsense probably null
R8292:Krr1 UTSW 10 111,813,021 (GRCm39) missense possibly damaging 0.74
R8364:Krr1 UTSW 10 111,813,104 (GRCm39) missense probably damaging 1.00
R9417:Krr1 UTSW 10 111,813,026 (GRCm39) missense probably benign 0.10
R9603:Krr1 UTSW 10 111,812,672 (GRCm39) missense probably damaging 1.00
R9666:Krr1 UTSW 10 111,818,896 (GRCm39) missense possibly damaging 0.86
R9673:Krr1 UTSW 10 111,818,963 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02