Incidental Mutation 'IGL02708:Krt78'
ID304431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt78
Ensembl Gene ENSMUSG00000050463
Gene Namekeratin 78
Synonyms2310030B04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02708
Quality Score
Status
Chromosome15
Chromosomal Location101946001-101954287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101953407 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 135 (T135S)
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
Predicted Effect possibly damaging
Transcript: ENSMUST00000164932
AA Change: T135S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: T135S

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 101 5.7e-16 PFAM
Filament 104 417 1.38e-133 SMART
internal_repeat_1 421 660 8.87e-74 PROSPERO
internal_repeat_1 704 957 8.87e-74 PROSPERO
low complexity region 1033 1049 N/A INTRINSIC
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 is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,500,801 V1104D probably damaging Het
Adgrl2 A T 3: 148,826,525 V1024E probably damaging Het
Agbl2 A G 2: 90,801,342 H348R probably benign Het
Aifm2 T C 10: 61,738,575 probably benign Het
Ankrd26 T C 6: 118,518,418 probably benign Het
Avpr1b A G 1: 131,600,651 D304G probably damaging Het
Duox1 A G 2: 122,326,017 D475G possibly damaging Het
E2f8 T C 7: 48,867,234 probably null Het
Fat2 T A 11: 55,282,385 I2501F probably damaging Het
Gm13119 T A 4: 144,363,413 L341H probably damaging Het
Gm4181 A G 14: 51,633,232 C91R probably benign Het
Gm5424 T A 10: 62,071,611 noncoding transcript Het
Gnai3 A G 3: 108,118,344 F140L probably benign Het
Htra1 A T 7: 130,962,035 D212V probably damaging Het
Irgm2 T C 11: 58,220,524 V347A probably benign Het
Itch A G 2: 155,174,044 T150A probably benign Het
Itgb3 A C 11: 104,637,829 I261L possibly damaging Het
Kalrn C T 16: 34,392,050 V31M probably damaging Het
Klra7 C T 6: 130,226,500 C181Y probably damaging Het
Klrb1 A G 6: 128,713,585 L58S probably benign Het
Kndc1 A G 7: 139,901,181 E61G probably damaging Het
Mpdz A G 4: 81,284,571 probably null Het
Mphosph6 A G 8: 117,792,786 probably benign Het
Myo19 T C 11: 84,899,396 S393P possibly damaging Het
Olfr586 A G 7: 103,121,820 probably benign Het
Olfr968 T C 9: 39,771,918 N294S probably damaging Het
Pkdrej T C 15: 85,820,787 Y316C probably damaging Het
Pkp3 A T 7: 141,089,768 probably benign Het
Ppil2 A T 16: 17,106,008 V59D probably benign Het
Psmb8 A G 17: 34,201,243 K270E probably benign Het
Ptprq T C 10: 107,652,700 N959D probably damaging Het
Rab6b T G 9: 103,160,875 probably null Het
Rhobtb3 T C 13: 75,917,724 D180G probably damaging Het
Sccpdh G A 1: 179,680,509 C238Y probably benign Het
Srm C T 4: 148,593,346 S147L probably benign Het
Synj1 A T 16: 90,991,462 S173T probably damaging Het
Tas1r1 T C 4: 152,028,340 E752G possibly damaging Het
Tmem151a G T 19: 5,082,847 Y110* probably null Het
Ttn A G 2: 76,726,613 V30016A probably damaging Het
Txnrd2 A G 16: 18,468,840 E331G probably benign Het
Vldlr T C 19: 27,238,085 C161R possibly damaging Het
Vmn1r91 T A 7: 20,101,490 S111R probably damaging Het
Vmn2r66 T A 7: 85,006,588 I407F probably benign Het
Vps13d T C 4: 145,128,280 M2258V probably benign Het
Other mutations in Krt78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt78 APN 15 101947510 missense probably benign 0.28
IGL01358:Krt78 APN 15 101946263 missense probably benign 0.18
IGL01723:Krt78 APN 15 101951798 missense possibly damaging 0.65
IGL01743:Krt78 APN 15 101950898 missense probably benign 0.06
IGL01778:Krt78 APN 15 101950967 missense probably damaging 1.00
IGL01792:Krt78 APN 15 101946650 missense probably benign 0.01
IGL02271:Krt78 APN 15 101948593 missense probably benign 0.02
IGL02481:Krt78 APN 15 101948418 splice site probably benign
IGL02494:Krt78 APN 15 101954051 missense probably benign 0.00
IGL02747:Krt78 APN 15 101950384 splice site probably benign
IGL02997:Krt78 APN 15 101947163 missense probably benign 0.11
IGL03350:Krt78 APN 15 101946517 missense probably benign 0.02
IGL03410:Krt78 APN 15 101953986 missense probably damaging 0.99
PIT4812001:Krt78 UTSW 15 101948069 missense probably damaging 1.00
R0090:Krt78 UTSW 15 101947837 missense probably benign 0.35
R0513:Krt78 UTSW 15 101950949 missense probably damaging 1.00
R0908:Krt78 UTSW 15 101950901 missense probably damaging 1.00
R1067:Krt78 UTSW 15 101946461 nonsense probably null
R1070:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1194:Krt78 UTSW 15 101951786 missense probably damaging 0.99
R1213:Krt78 UTSW 15 101951810 missense probably benign 0.10
R1467:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1467:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1612:Krt78 UTSW 15 101951844 splice site probably null
R1750:Krt78 UTSW 15 101946377 missense probably benign 0.33
R1796:Krt78 UTSW 15 101950865 missense probably damaging 1.00
R1863:Krt78 UTSW 15 101946569 missense possibly damaging 0.53
R1901:Krt78 UTSW 15 101946963 nonsense probably null
R1902:Krt78 UTSW 15 101946963 nonsense probably null
R1975:Krt78 UTSW 15 101946168 makesense probably null
R2105:Krt78 UTSW 15 101947414 missense possibly damaging 0.93
R2418:Krt78 UTSW 15 101946634 missense probably benign
R2421:Krt78 UTSW 15 101947264 missense probably damaging 0.96
R2422:Krt78 UTSW 15 101947264 missense probably damaging 0.96
R2443:Krt78 UTSW 15 101946598 missense probably damaging 1.00
R2897:Krt78 UTSW 15 101947106 missense probably benign
R4422:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4424:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4425:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4583:Krt78 UTSW 15 101946620 missense possibly damaging 0.53
R4752:Krt78 UTSW 15 101948202 missense probably benign 0.05
R4927:Krt78 UTSW 15 101946899 missense probably benign 0.02
R5129:Krt78 UTSW 15 101947580 missense possibly damaging 0.70
R5391:Krt78 UTSW 15 101951828 nonsense probably null
R5575:Krt78 UTSW 15 101947352 nonsense probably null
R5617:Krt78 UTSW 15 101947609 missense probably damaging 0.99
R5806:Krt78 UTSW 15 101950502 missense probably damaging 1.00
R5906:Krt78 UTSW 15 101948595 missense probably damaging 0.98
R5993:Krt78 UTSW 15 101950449 missense probably damaging 1.00
R6520:Krt78 UTSW 15 101951771 missense probably benign 0.26
R6531:Krt78 UTSW 15 101952273 missense probably benign 0.03
R6587:Krt78 UTSW 15 101952269 missense probably benign 0.10
R6749:Krt78 UTSW 15 101950923 missense probably damaging 1.00
R7126:Krt78 UTSW 15 101948436 missense probably damaging 1.00
R7158:Krt78 UTSW 15 101951806 missense probably benign 0.17
R7229:Krt78 UTSW 15 101947394 missense probably benign 0.01
R7523:Krt78 UTSW 15 101946601 missense not run
R7638:Krt78 UTSW 15 101950883 missense probably damaging 1.00
X0018:Krt78 UTSW 15 101951800 missense possibly damaging 0.96
Z1088:Krt78 UTSW 15 101947331 missense possibly damaging 0.91
Posted On2015-04-16