Incidental Mutation 'R1196:Krr1'
ID101133
Institutional Source Beutler Lab
Gene Symbol Krr1
Ensembl Gene ENSMUSG00000063334
Gene NameKRR1, small subunit (SSU) processome component, homolog (yeast)
Synonyms2610511F02Rik, D10Ertd773e, Hrb2
MMRRC Submission 039268-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #R1196 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location111972664-111988432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111975657 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 85 (H85Q)
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: H85Q

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334
AA Change: H85Q

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
AA Change: H85Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334
AA Change: H85Q

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
Meta Mutation Damage Score 0.102 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 94.9%
  • 20x: 86.8%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,245,092 I2112T probably benign Het
Agtpbp1 C A 13: 59,450,318 probably benign Het
Ash1l T C 3: 88,983,316 M834T probably damaging Het
Aspg A G 12: 112,116,524 T213A possibly damaging Het
Chpf2 T C 5: 24,589,648 V272A possibly damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Ddah2 G T 17: 35,061,527 D215Y probably damaging Het
Dna2 C T 10: 62,949,187 R28W probably benign Het
Fam46c T C 3: 100,473,000 T147A possibly damaging Het
Fbrsl1 T A 5: 110,374,519 M150L probably benign Het
Hmces T A 6: 87,936,182 D306E probably benign Het
Itga2 C T 13: 114,866,155 probably null Het
Jmjd1c T C 10: 67,239,236 probably benign Het
Krt83 C T 15: 101,491,433 R6Q probably benign Het
Krtap24-1 T C 16: 88,611,642 M199V probably benign Het
Krtap5-2 A T 7: 142,174,883 C353* probably null Het
Myo7a T G 7: 98,097,673 I178L possibly damaging Het
Myof G A 19: 37,910,960 T1043I probably damaging Het
Noc4l C T 5: 110,650,584 E247K probably damaging Het
Notch4 T C 17: 34,568,863 C437R probably damaging Het
Nrbp1 T A 5: 31,245,813 I210N probably damaging Het
Olfr1180 A T 2: 88,412,546 N37K probably damaging Het
Olfr859 A G 9: 19,808,632 I105V probably benign Het
Pank4 T C 4: 154,978,173 F584L probably damaging Het
Prl2c2 G C 13: 13,002,201 T47R probably damaging Het
Ranbp2 T A 10: 58,477,053 F1198L probably damaging Het
Sf3b1 C G 1: 55,019,395 E12Q possibly damaging Het
Ttc28 G A 5: 111,225,677 S962N probably damaging Het
Unc13a A G 8: 71,654,986 I554T probably damaging Het
Zfc3h1 A G 10: 115,411,961 D1023G probably damaging Het
Zfp791 T A 8: 85,110,954 K94* probably null Het
Other mutations in Krr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03334:Krr1 APN 10 111980054 missense probably benign 0.45
R0452:Krr1 UTSW 10 111975598 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CTGTCCCTGATGGTTGGAAGGAAC -3'
(R):5'- ACTGCCTACGAAAGGCATTTGGAG -3'

Sequencing Primer
(F):5'- CCAGCTTTTTCCAAAGAGGAC -3'
(R):5'- TGGCTTGAGGAACCTCTAAAC -3'
Posted On2014-01-15