Incidental Mutation 'IGL02539:Krtap4-8'
ID297641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-8
Ensembl Gene ENSMUSG00000089724
Gene Namekeratin associated protein 4-8
SynonymsOTTMUSG00000002541
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02539
Quality Score
Status
Chromosome11
Chromosomal Location99779722-99780704 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 99780370 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]
Predicted Effect probably benign
Transcript: ENSMUST00000105059
SMART Domains Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 1.2e-8 PFAM
Pfam:Keratin_B2_2 14 58 4.4e-13 PFAM
Pfam:Keratin_B2_2 54 102 3e-10 PFAM
Pfam:Keratin_B2_2 87 132 8.4e-12 PFAM
Pfam:Keratin_B2_2 98 147 3.4e-9 PFAM
Pfam:Keratin_B2_2 138 182 3.1e-12 PFAM
Pfam:Keratin_B2_2 178 222 4.8e-12 PFAM
Pfam:Keratin_B2_2 203 244 4.9e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107439
AA Change: S92T
SMART Domains Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724
AA Change: S92T

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 14 58 1.8e-13 PFAM
Pfam:Keratin_B2_2 54 98 6.7e-15 PFAM
Pfam:Keratin_B2_2 94 138 9.5e-15 PFAM
Pfam:Keratin_B2_2 138 182 1.5e-12 PFAM
Pfam:Keratin_B2_2 168 209 8.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Krtap4-8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Krtap4-8 APN 11 99780005 utr 3 prime probably benign
IGL02516:Krtap4-8 APN 11 99780342 unclassified probably benign
IGL02655:Krtap4-8 APN 11 99780628 unclassified probably benign
H8786:Krtap4-8 UTSW 11 99780072 missense unknown
R0090:Krtap4-8 UTSW 11 99780486 unclassified probably benign
R2398:Krtap4-8 UTSW 11 99780277 unclassified probably benign
R3911:Krtap4-8 UTSW 11 99780037 missense unknown
R4608:Krtap4-8 UTSW 11 99780495 unclassified probably benign
R4720:Krtap4-8 UTSW 11 99780445 unclassified probably benign
R6747:Krtap4-8 UTSW 11 99780091 missense unknown
R7327:Krtap4-8 UTSW 11 99780408 missense unknown
Posted On2015-04-16