Incidental Mutation 'IGL03334:Krr1'
ID416970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krr1
Ensembl Gene ENSMUSG00000063334
Gene NameKRR1, small subunit (SSU) processome component, homolog (yeast)
Synonyms2610511F02Rik, D10Ertd773e, Hrb2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL03334
Quality Score
Status
Chromosome10
Chromosomal Location111972664-111988432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 111980054 bp
ZygosityHeterozygous
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]
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: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Krr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
curtains UTSW 10 111975599 missense probably damaging 1.00
R0452:Krr1 UTSW 10 111975598 missense probably damaging 1.00
R1196:Krr1 UTSW 10 111975657 missense probably benign 0.33
R2010:Krr1 UTSW 10 111975569 missense possibly damaging 0.94
R2084:Krr1 UTSW 10 111976785 missense probably damaging 1.00
R4606:Krr1 UTSW 10 111975677 intron probably benign
R4860:Krr1 UTSW 10 111985691 unclassified probably benign
R5652:Krr1 UTSW 10 111977383 missense possibly damaging 0.77
R7657:Krr1 UTSW 10 111975599 missense probably damaging 1.00
R8215:Krr1 UTSW 10 111979929 nonsense probably null
R8292:Krr1 UTSW 10 111977116 missense possibly damaging 0.74
R8364:Krr1 UTSW 10 111977199 missense probably damaging 1.00
Posted On2016-08-02