Incidental Mutation 'IGL02541:Krtap4-2'
ID298213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-2
Ensembl Gene ENSMUSG00000044649
Gene Namekeratin associated protein 4-2
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02541
Quality Score
Status
Chromosome11
Chromosomal Location99634111-99635084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 99634966 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 20 (Q20P)
Ref Sequence ENSEMBL: ENSMUSP00000056162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058987]
Predicted Effect unknown
Transcript: ENSMUST00000058987
AA Change: Q20P
SMART Domains Protein: ENSMUSP00000056162
Gene: ENSMUSG00000044649
AA Change: Q20P

DomainStartEndE-ValueType
Pfam:Keratin_B2 1 83 1.6e-9 PFAM
Pfam:Keratin_B2_2 2 57 8.8e-11 PFAM
Pfam:Keratin_B2_2 28 72 1.1e-14 PFAM
Pfam:Keratin_B2_2 56 102 2.8e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,514,658 L917F possibly damaging Het
Abca6 A T 11: 110,212,267 W833R probably damaging Het
Asb15 T A 6: 24,566,266 V406D probably damaging Het
Bcl9l T C 9: 44,507,769 V968A probably benign Het
Bend7 T C 2: 4,763,305 probably null Het
Cadm2 C A 16: 66,882,883 probably null Het
Cadm2 C A 16: 66,882,882 G21V possibly damaging Het
Camta1 G A 4: 151,084,655 T1191I probably benign Het
Cep152 C T 2: 125,605,354 A425T probably damaging Het
Cep95 C A 11: 106,815,581 Q554K probably damaging Het
Cgref1 A G 5: 30,934,158 probably null Het
Clock T A 5: 76,262,672 probably null Het
Cmc2 A G 8: 116,894,144 F33L probably benign Het
Cnksr3 A G 10: 7,135,073 V258A probably damaging Het
Col6a6 G T 9: 105,732,216 N1624K probably benign Het
Cped1 T C 6: 22,120,989 I356T probably benign Het
Dpy19l2 C T 9: 24,658,647 V337I probably benign Het
E2f3 A T 13: 29,916,844 probably null Het
Eif1ad A G 19: 5,368,417 probably benign Het
Fam114a2 A T 11: 57,499,801 D302E probably benign Het
Fam129c A T 8: 71,602,782 T279S probably benign Het
Fign T C 2: 63,979,537 N463S probably benign Het
Fzr1 T C 10: 81,370,033 T220A probably damaging Het
Gm14496 G A 2: 182,000,393 R619Q probably benign Het
Gm9268 T A 7: 43,023,668 probably benign Het
Gm9966 T C 7: 95,958,784 I104T unknown Het
Itgb7 G T 15: 102,223,457 H230Q probably benign Het
Kif7 T C 7: 79,710,880 H249R possibly damaging Het
Mis18bp1 T C 12: 65,161,460 T160A probably damaging Het
Mpp6 A G 6: 50,183,727 I323V probably benign Het
Mrps9 T C 1: 42,862,654 probably null Het
Mum1 G A 10: 80,228,439 probably null Het
Mynn T A 3: 30,611,603 H461Q probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Notch1 C T 2: 26,468,503 D1439N probably benign Het
Olfr701 A G 7: 106,818,602 E173G probably benign Het
Pcdhb3 A T 18: 37,302,145 D388V probably damaging Het
Pold3 C T 7: 100,083,672 G417S probably damaging Het
Rad17 A G 13: 100,633,443 probably benign Het
Sh3glb1 T C 3: 144,720,040 D5G probably damaging Het
Shank3 T A 15: 89,501,410 Y167N probably damaging Het
Slc3a2 A T 19: 8,707,759 Y292* probably null Het
Slc7a13 T A 4: 19,839,212 probably benign Het
Snx18 A T 13: 113,594,766 I564N probably damaging Het
Supt6 G A 11: 78,226,918 R491C probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tnrc6b C A 15: 80,879,831 D511E probably benign Het
Trio A G 15: 27,844,930 probably benign Het
Trmt12 T A 15: 58,873,802 W350R probably benign Het
Ttc1 T C 11: 43,738,821 T173A probably benign Het
Ttc39d C A 17: 80,216,446 T178K probably damaging Het
Ufl1 T A 4: 25,250,534 E693V possibly damaging Het
Vamp2 G T 11: 69,089,151 E16D unknown Het
Wdr70 C T 15: 7,884,302 W622* probably null Het
Zfp28 C T 7: 6,393,480 Q305* probably null Het
Zfp653 C A 9: 22,055,783 R602L probably damaging Het
Zzef1 T A 11: 72,872,649 V1374E probably damaging Het
Other mutations in Krtap4-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Krtap4-2 UTSW 11 99635013 small insertion probably benign
RF017:Krtap4-2 UTSW 11 99634717 frame shift probably null
RF043:Krtap4-2 UTSW 11 99634721 frame shift probably null
Z1176:Krtap4-2 UTSW 11 99634976 missense unknown
Posted On2015-04-16