Incidental Mutation 'IGL02193:Krt79'
ID283975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt79
Ensembl Gene ENSMUSG00000061397
Gene Namekeratin 79
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02193
Quality Score
Status
Chromosome15
Chromosomal Location101929332-101940324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 101939905 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 104 (P104T)
Ref Sequence ENSEMBL: ENSMUSP00000023799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023799]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023799
AA Change: P104T

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: P104T

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 98 6.6e-11 PFAM
Pfam:Keratin_2_head 73 135 1.2e-21 PFAM
Filament 138 452 7.12e-159 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229195
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,249,000 T191A probably benign Het
9130011E15Rik G T 19: 45,972,884 T118K probably benign Het
Agl A G 3: 116,779,166 L812P probably damaging Het
Ankmy1 A T 1: 92,881,045 F714I probably benign Het
Celf5 A G 10: 81,470,673 I52T probably damaging Het
Clstn1 T C 4: 149,645,352 V771A probably benign Het
Enpep G T 3: 129,281,687 L661I possibly damaging Het
Faxc A G 4: 21,993,486 N377D possibly damaging Het
Gabrb3 A G 7: 57,792,516 E190G probably damaging Het
Gm4787 C T 12: 81,378,528 M285I probably benign Het
Gm5900 A C 7: 104,950,024 noncoding transcript Het
Gm6133 A G 18: 78,350,093 N101D probably benign Het
Gtse1 A G 15: 85,862,330 K116E probably benign Het
H2-D1 T G 17: 35,265,809 H215Q possibly damaging Het
Hdc A T 2: 126,601,780 probably benign Het
Hnrnph3 T C 10: 63,017,277 H195R probably damaging Het
Ipo8 T C 6: 148,777,284 T939A probably damaging Het
Lama4 A T 10: 39,042,674 M384L probably benign Het
Lamb2 T G 9: 108,489,360 D1590E probably benign Het
Ly6i A T 15: 74,983,030 C10* probably null Het
Mamdc4 G A 2: 25,564,446 A1082V probably benign Het
Mrvi1 A T 7: 110,898,955 L411Q probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nlrp4a T A 7: 26,459,692 L799H probably damaging Het
Olfr1040 A T 2: 86,146,715 N6K probably benign Het
Olfr1383 C T 11: 49,523,744 T7I possibly damaging Het
Olfr449 T C 6: 42,838,819 probably benign Het
Otud6b T C 4: 14,812,543 H268R probably damaging Het
Peg3 T C 7: 6,711,928 E138G probably damaging Het
Phactr1 T C 13: 42,709,700 probably benign Het
Psmf1 A G 2: 151,720,813 probably benign Het
Rab32 T C 10: 10,546,455 probably benign Het
Rfwd3 C T 8: 111,273,015 probably benign Het
Slc25a3 A G 10: 91,118,115 V245A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc1 A G 18: 9,992,863 D545G probably benign Het
Tpst1 T A 5: 130,101,896 M69K possibly damaging Het
Trank1 T C 9: 111,367,276 V1456A probably benign Het
Trappc6a T A 7: 19,515,219 C124S possibly damaging Het
Tsc22d2 T A 3: 58,460,207 probably benign Het
Other mutations in Krt79
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Krt79 APN 15 101940166 missense probably damaging 0.98
IGL00546:Krt79 APN 15 101929873 missense probably benign 0.00
IGL01595:Krt79 APN 15 101931771 missense probably damaging 0.98
R0639:Krt79 UTSW 15 101931548 nonsense probably null
R0980:Krt79 UTSW 15 101938007 missense probably damaging 1.00
R1839:Krt79 UTSW 15 101937938 missense possibly damaging 0.81
R4624:Krt79 UTSW 15 101939806 missense possibly damaging 0.92
R4745:Krt79 UTSW 15 101930684 missense probably damaging 1.00
R5203:Krt79 UTSW 15 101929740 missense unknown
R5382:Krt79 UTSW 15 101931440 missense probably benign 0.09
R5568:Krt79 UTSW 15 101929785 missense probably damaging 0.99
R6902:Krt79 UTSW 15 101931879 missense probably benign 0.08
R6916:Krt79 UTSW 15 101936170 missense probably benign 0.01
R6998:Krt79 UTSW 15 101937872 missense probably benign
R7009:Krt79 UTSW 15 101931441 missense probably damaging 1.00
R7663:Krt79 UTSW 15 101931843 missense probably damaging 0.97
R8161:Krt79 UTSW 15 101930702 missense probably damaging 0.96
R8184:Krt79 UTSW 15 101929752 missense unknown
R8206:Krt79 UTSW 15 101940270 start gained probably null
Posted On2015-04-16