Incidental Mutation 'IGL01568:Krt28'
ID 91043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt28
Ensembl Gene ENSMUSG00000055937
Gene Name keratin 28
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01568
Quality Score
Status
Chromosome 11
Chromosomal Location 99364872-99374903 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99371417 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 249 (P249Q)
Ref Sequence ENSEMBL: ENSMUSP00000006963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006963]
AlphaFold A6BLY7
Predicted Effect probably damaging
Transcript: ENSMUST00000006963
AA Change: P249Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: P249Q

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Filament 83 398 4.6e-144 SMART
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 type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A G 6: 50,573,698 probably benign Het
Akap13 T A 7: 75,608,522 L298* probably null Het
Capn15 G T 17: 25,965,445 R21S probably damaging Het
Cbs A G 17: 31,621,514 L290P possibly damaging Het
Dnah5 T C 15: 28,229,652 I144T probably benign Het
Dok4 T A 8: 94,866,802 I119F probably benign Het
Dpp9 T C 17: 56,191,159 N599S probably benign Het
Ep400 T C 5: 110,719,495 T984A unknown Het
Fcrls T C 3: 87,256,679 N381S probably damaging Het
Fhod3 A G 18: 25,120,162 I1390V probably benign Het
Gabbr1 A G 17: 37,070,669 Y775C probably damaging Het
Gimap9 A G 6: 48,677,616 T46A probably benign Het
Gm3696 T C 14: 7,089,819 N88S probably benign Het
Gm5277 A G 3: 78,892,436 noncoding transcript Het
Gpr153 C A 4: 152,282,368 probably null Het
Hgf A T 5: 16,564,814 K95N probably damaging Het
Igf2r A G 17: 12,683,985 S2393P possibly damaging Het
Ikbke C A 1: 131,257,896 probably null Het
Il17re G T 6: 113,470,052 R588L probably damaging Het
Itch T C 2: 155,212,462 probably benign Het
Krt2 T A 15: 101,813,211 D465V probably damaging Het
Lax1 A T 1: 133,680,300 D234E probably benign Het
Mtmr3 A G 11: 4,527,861 I61T probably damaging Het
Naip5 G T 13: 100,217,101 Q1217K probably benign Het
Nt5dc3 A G 10: 86,833,938 T466A probably benign Het
Olfr1350 A T 7: 6,570,570 H193L possibly damaging Het
Olfr283 T C 15: 98,378,906 D68G probably damaging Het
Pcdhb3 T C 18: 37,302,001 V340A possibly damaging Het
Pclo C T 5: 14,678,429 probably benign Het
Piezo2 C T 18: 63,030,392 V2152I probably benign Het
Pip4k2b A T 11: 97,729,552 probably null Het
Ptprs G A 17: 56,413,958 H1432Y probably damaging Het
Rars A G 11: 35,825,981 probably benign Het
Scrn1 A G 6: 54,522,754 probably benign Het
Sdr42e1 T C 8: 117,663,443 Y153C probably damaging Het
Slc18a1 A T 8: 69,065,626 S245R probably damaging Het
Tns1 T G 1: 73,953,509 D670A probably damaging Het
Trim16 T A 11: 62,820,858 D118E probably benign Het
Trpv1 A G 11: 73,238,443 D62G probably benign Het
Tyr A G 7: 87,437,948 L452P probably damaging Het
Ubr4 T C 4: 139,421,373 C1723R probably damaging Het
Uqcrb G A 13: 66,901,395 probably benign Het
Vax2 G T 6: 83,711,537 V81L possibly damaging Het
Zan A G 5: 137,464,844 V691A unknown Het
Zfp335 A G 2: 164,894,788 S976P possibly damaging Het
Zfp384 C T 6: 125,024,132 P56S probably damaging Het
Other mutations in Krt28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Krt28 APN 11 99371468 missense probably benign 0.00
IGL01590:Krt28 APN 11 99374394 critical splice donor site probably null
R1250:Krt28 UTSW 11 99366822 critical splice donor site probably null
R1488:Krt28 UTSW 11 99365171 missense probably benign 0.01
R2116:Krt28 UTSW 11 99365117 missense probably benign 0.27
R4244:Krt28 UTSW 11 99374550 missense probably damaging 1.00
R4862:Krt28 UTSW 11 99365110 missense possibly damaging 0.92
R4928:Krt28 UTSW 11 99374632 missense probably benign 0.00
R5035:Krt28 UTSW 11 99366824 missense probably benign 0.00
R5568:Krt28 UTSW 11 99371384 missense probably damaging 1.00
R5642:Krt28 UTSW 11 99374494 missense probably damaging 1.00
R5873:Krt28 UTSW 11 99366890 missense probably damaging 1.00
R6053:Krt28 UTSW 11 99371201 missense probably benign 0.05
R6548:Krt28 UTSW 11 99367013 missense probably damaging 1.00
R7194:Krt28 UTSW 11 99374404 nonsense probably null
R7863:Krt28 UTSW 11 99365173 missense possibly damaging 0.65
R7986:Krt28 UTSW 11 99366825 missense probably benign 0.00
R8415:Krt28 UTSW 11 99374800 missense probably benign
Posted On 2013-12-09