Incidental Mutation 'R0691:Krt33a'
ID 226045
Institutional Source Beutler Lab
Gene Symbol Krt33a
Ensembl Gene ENSMUSG00000035592
Gene Name keratin 33A
Synonyms 2310015J09Rik
MMRRC Submission 038876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0691 (G1)
Quality Score 27
Status Validated
Chromosome 11
Chromosomal Location 99902025-99907038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 99903541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 197 (E197A)
Ref Sequence ENSEMBL: ENSMUSP00000018399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018399]
AlphaFold Q8K0Y2
Predicted Effect probably damaging
Transcript: ENSMUST00000018399
AA Change: E197A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: E197A

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 1.99e-148 SMART
internal_repeat_1 368 385 6.11e-5 PROSPERO
internal_repeat_1 384 399 6.11e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138756
Meta Mutation Damage Score 0.4141 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Mutations of this gene cause the hair coat to appear either shiny, reflective and "polished" or greasy looking, disheveled and "spikey." [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,584,979 (GRCm39) D865G possibly damaging Het
Acy1 A T 9: 106,313,070 (GRCm39) probably null Het
Adcy4 A T 14: 56,010,104 (GRCm39) probably benign Het
Anpep T G 7: 79,489,047 (GRCm39) D347A probably damaging Het
Arhgap28 C T 17: 68,203,159 (GRCm39) probably null Het
Ccdc32 A G 2: 118,857,610 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,400 (GRCm39) T1401A possibly damaging Het
Celsr2 A G 3: 108,319,939 (GRCm39) Y958H probably damaging Het
Cenpe A G 3: 134,923,066 (GRCm39) E137G probably damaging Het
Chd8 T C 14: 52,450,890 (GRCm39) D1399G probably damaging Het
Cntn3 T C 6: 102,145,908 (GRCm39) T978A possibly damaging Het
Col10a1 A G 10: 34,271,692 (GRCm39) T555A possibly damaging Het
Crybg3 A C 16: 59,385,574 (GRCm39) probably null Het
Cts7 A G 13: 61,503,548 (GRCm39) F139L probably damaging Het
Dera T C 6: 137,773,745 (GRCm39) probably benign Het
Dgka A G 10: 128,559,129 (GRCm39) probably benign Het
Dhrs7 T A 12: 72,699,125 (GRCm39) I286F probably damaging Het
Dtwd2 A G 18: 49,861,424 (GRCm39) probably benign Het
Fermt1 A G 2: 132,748,653 (GRCm39) S657P probably damaging Het
Fhip2b T C 14: 70,825,727 (GRCm39) D351G probably damaging Het
Flnb T C 14: 7,890,810 (GRCm38) V564A probably benign Het
Garnl3 A G 2: 32,975,919 (GRCm39) F16L probably damaging Het
Gck T C 11: 5,856,691 (GRCm39) R191G probably damaging Het
Gucy1b1 A T 3: 81,952,941 (GRCm39) probably benign Het
Ifna2 A C 4: 88,601,895 (GRCm39) L41R probably damaging Het
Lce1e G A 3: 92,615,063 (GRCm39) R95C unknown Het
Lct G T 1: 128,235,971 (GRCm39) S345R probably benign Het
Lrp2 A T 2: 69,281,724 (GRCm39) N3882K probably benign Het
Mcc G T 18: 44,578,927 (GRCm39) T652K possibly damaging Het
Mier1 A G 4: 102,996,699 (GRCm39) S109G probably benign Het
Nfat5 A G 8: 108,082,237 (GRCm39) N469S probably damaging Het
Or1e23 C A 11: 73,407,670 (GRCm39) M118I possibly damaging Het
Or6c214 G A 10: 129,591,271 (GRCm39) T16I probably damaging Het
Piwil1 G T 5: 128,820,371 (GRCm39) R256M probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Sdk2 T C 11: 113,685,746 (GRCm39) probably null Het
Sec22b A G 3: 97,819,990 (GRCm39) E94G probably damaging Het
Snrnp70 T C 7: 45,036,669 (GRCm39) R131G possibly damaging Het
Spata31d1a A G 13: 59,848,199 (GRCm39) S1310P possibly damaging Het
Spint1 A G 2: 119,076,948 (GRCm39) E344G probably damaging Het
Srrm1 G A 4: 135,052,302 (GRCm39) Q141* probably null Het
Tecta A T 9: 42,295,637 (GRCm39) L286Q probably damaging Het
Tep1 T A 14: 51,104,301 (GRCm39) K198* probably null Het
Tk2 A G 8: 104,957,824 (GRCm39) V174A probably benign Het
Txndc5 T C 13: 38,691,872 (GRCm39) K165E probably damaging Het
Ubr4 G A 4: 139,151,217 (GRCm39) R1884Q probably damaging Het
Vmn2r61 T C 7: 41,949,844 (GRCm39) Y755H probably damaging Het
Xrn1 T A 9: 95,855,592 (GRCm39) H296Q probably damaging Het
Zar1l A T 5: 150,436,407 (GRCm39) V223D probably damaging Het
Other mutations in Krt33a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Krt33a APN 11 99,902,843 (GRCm39) missense probably benign 0.35
IGL02412:Krt33a APN 11 99,902,805 (GRCm39) missense probably benign 0.01
IGL02523:Krt33a APN 11 99,902,518 (GRCm39) missense probably benign 0.02
Polished UTSW 11 99,903,437 (GRCm39) missense probably damaging 1.00
Polished2 UTSW 11 99,906,676 (GRCm39) missense probably benign 0.10
Spikey UTSW 11 99,902,765 (GRCm39) missense probably damaging 1.00
R0492:Krt33a UTSW 11 99,906,909 (GRCm39) missense probably benign 0.02
R0496:Krt33a UTSW 11 99,903,155 (GRCm39) splice site probably benign
R1077:Krt33a UTSW 11 99,906,763 (GRCm39) missense probably benign
R1624:Krt33a UTSW 11 99,905,072 (GRCm39) missense probably damaging 1.00
R1911:Krt33a UTSW 11 99,903,175 (GRCm39) missense probably benign 0.35
R1944:Krt33a UTSW 11 99,903,535 (GRCm39) missense probably benign 0.10
R1945:Krt33a UTSW 11 99,903,535 (GRCm39) missense probably benign 0.10
R2254:Krt33a UTSW 11 99,905,004 (GRCm39) missense possibly damaging 0.95
R2255:Krt33a UTSW 11 99,905,004 (GRCm39) missense possibly damaging 0.95
R3716:Krt33a UTSW 11 99,904,991 (GRCm39) missense probably benign 0.01
R4377:Krt33a UTSW 11 99,903,253 (GRCm39) missense possibly damaging 0.46
R5233:Krt33a UTSW 11 99,904,961 (GRCm39) missense probably damaging 1.00
R6029:Krt33a UTSW 11 99,903,289 (GRCm39) missense probably benign 0.01
R6316:Krt33a UTSW 11 99,905,027 (GRCm39) missense probably damaging 0.98
R6807:Krt33a UTSW 11 99,903,209 (GRCm39) missense possibly damaging 0.61
R7272:Krt33a UTSW 11 99,902,837 (GRCm39) missense probably damaging 1.00
R7323:Krt33a UTSW 11 99,902,801 (GRCm39) missense probably benign 0.08
R7461:Krt33a UTSW 11 99,902,765 (GRCm39) missense probably damaging 1.00
R7613:Krt33a UTSW 11 99,902,765 (GRCm39) missense probably damaging 1.00
R7657:Krt33a UTSW 11 99,906,693 (GRCm39) missense probably benign
R7748:Krt33a UTSW 11 99,902,428 (GRCm39) missense probably benign
R8183:Krt33a UTSW 11 99,905,575 (GRCm39) critical splice donor site probably null
R8554:Krt33a UTSW 11 99,903,209 (GRCm39) missense possibly damaging 0.61
R8841:Krt33a UTSW 11 99,904,961 (GRCm39) missense probably damaging 1.00
R9587:Krt33a UTSW 11 99,906,733 (GRCm39) missense probably damaging 1.00
R9655:Krt33a UTSW 11 99,906,624 (GRCm39) critical splice donor site probably null
Z1176:Krt33a UTSW 11 99,902,740 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGACACCACCTGCTTGTTCAACTC -3'
(R):5'- TCACTGACCACAGGGAAAAGGATGC -3'

Sequencing Primer
(F):5'- CCTCTGTCTGCAATAGGCAAG -3'
(R):5'- TGCTGGGAAGGAACAGAATG -3'
Posted On 2014-09-10