Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01778:Krt78'

153759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101859402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 265 (D265V)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164932]

AlphaFold

E9Q0F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164932
AA Change: D265V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: D265V

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,751,162 (GRCm39)	K325E	probably benign	Het
Arc	C	T	15: 74,544,204 (GRCm39)	M6I	probably benign	Het
Atp7b	A	T	8: 22,484,844 (GRCm39)	D1404E	probably benign	Het
Cdk5rap1	T	A	2: 154,207,956 (GRCm39)	N156I	probably damaging	Het
Ctsa	T	C	2: 164,676,230 (GRCm39)		probably benign	Het
Depdc1b	T	G	13: 108,498,861 (GRCm39)	N181K	probably benign	Het
Epg5	T	C	18: 78,062,489 (GRCm39)	V1994A	probably damaging	Het
Epyc	T	A	10: 97,517,099 (GRCm39)	C312*	probably null	Het
Erv3	T	A	2: 131,697,877 (GRCm39)	R161*	probably null	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,824,644 (GRCm39)	T280A	possibly damaging	Het
Gldn	A	T	9: 54,241,776 (GRCm39)		probably null	Het
Gtf3c4	G	A	2: 28,725,100 (GRCm39)	R211C	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hsh2d	A	G	8: 72,947,351 (GRCm39)	D16G	probably damaging	Het
Klk15	T	A	7: 43,588,262 (GRCm39)	M190K	probably damaging	Het
Klri1	A	G	6: 129,694,010 (GRCm39)	S26P	possibly damaging	Het
Lgr5	A	C	10: 115,298,607 (GRCm39)	I355S	probably damaging	Het
Lig3	T	A	11: 82,685,367 (GRCm39)	V595D	probably damaging	Het
Map2k6	A	C	11: 110,403,695 (GRCm39)		probably benign	Het
Mdm4	A	G	1: 132,922,285 (GRCm39)	S286P	probably benign	Het
Ncoa4-ps	T	C	12: 119,226,231 (GRCm39)		noncoding transcript	Het
Or2ak7	A	G	11: 58,575,095 (GRCm39)	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,090,448 (GRCm39)	M114K	probably damaging	Het
Rdh13	C	T	7: 4,433,388 (GRCm39)		probably null	Het
Reg3g	T	A	6: 78,443,816 (GRCm39)	I131F	probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,892,818 (GRCm39)	F827I	probably damaging	Het
Slfn9	A	T	11: 82,878,200 (GRCm39)	C310S	probably damaging	Het
Sypl1	A	G	12: 33,025,641 (GRCm39)	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,699,098 (GRCm39)	T82S	possibly damaging	Het
Trim28	T	A	7: 12,764,629 (GRCm39)	V782D	probably damaging	Het
Ttn	G	A	2: 76,575,242 (GRCm39)	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,432,381 (GRCm39)	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,366,009 (GRCm39)	N308K	probably benign	Het
Xdh	T	C	17: 74,207,275 (GRCm39)	E986G	probably benign	Het
Zfp770	T	C	2: 114,026,719 (GRCm39)	D450G	probably damaging	Het
Zw10	T	G	9: 48,980,915 (GRCm39)	S438R	probably benign	Het

Other mutations in Krt78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Krt78	APN	15	101,855,945 (GRCm39)	missense	probably benign	0.28
IGL01358:Krt78	APN	15	101,854,698 (GRCm39)	missense	probably benign	0.18
IGL01723:Krt78	APN	15	101,860,233 (GRCm39)	missense	possibly damaging	0.65
IGL01743:Krt78	APN	15	101,859,333 (GRCm39)	missense	probably benign	0.06
IGL01792:Krt78	APN	15	101,855,085 (GRCm39)	missense	probably benign	0.01
IGL02271:Krt78	APN	15	101,857,028 (GRCm39)	missense	probably benign	0.02
IGL02481:Krt78	APN	15	101,856,853 (GRCm39)	splice site	probably benign
IGL02494:Krt78	APN	15	101,862,486 (GRCm39)	missense	probably benign	0.00
IGL02708:Krt78	APN	15	101,861,842 (GRCm39)	missense	possibly damaging	0.88
IGL02747:Krt78	APN	15	101,858,819 (GRCm39)	splice site	probably benign
IGL02997:Krt78	APN	15	101,855,598 (GRCm39)	missense	probably benign	0.11
IGL03350:Krt78	APN	15	101,854,952 (GRCm39)	missense	probably benign	0.02
IGL03410:Krt78	APN	15	101,862,421 (GRCm39)	missense	probably damaging	0.99
PIT4812001:Krt78	UTSW	15	101,856,504 (GRCm39)	missense	probably damaging	1.00
R0090:Krt78	UTSW	15	101,856,272 (GRCm39)	missense	probably benign	0.35
R0513:Krt78	UTSW	15	101,859,384 (GRCm39)	missense	probably damaging	1.00
R0908:Krt78	UTSW	15	101,859,336 (GRCm39)	missense	probably damaging	1.00
R1067:Krt78	UTSW	15	101,854,896 (GRCm39)	nonsense	probably null
R1070:Krt78	UTSW	15	101,854,728 (GRCm39)	missense	possibly damaging	0.86
R1194:Krt78	UTSW	15	101,860,221 (GRCm39)	missense	probably damaging	0.99
R1213:Krt78	UTSW	15	101,860,245 (GRCm39)	missense	probably benign	0.10
R1467:Krt78	UTSW	15	101,854,728 (GRCm39)	missense	possibly damaging	0.86
R1467:Krt78	UTSW	15	101,854,728 (GRCm39)	missense	possibly damaging	0.86
R1612:Krt78	UTSW	15	101,860,279 (GRCm39)	splice site	probably null
R1750:Krt78	UTSW	15	101,854,812 (GRCm39)	missense	probably benign	0.33
R1796:Krt78	UTSW	15	101,859,300 (GRCm39)	missense	probably damaging	1.00
R1863:Krt78	UTSW	15	101,855,004 (GRCm39)	missense	possibly damaging	0.53
R1901:Krt78	UTSW	15	101,855,398 (GRCm39)	nonsense	probably null
R1902:Krt78	UTSW	15	101,855,398 (GRCm39)	nonsense	probably null
R1975:Krt78	UTSW	15	101,854,603 (GRCm39)	makesense	probably null
R2105:Krt78	UTSW	15	101,855,849 (GRCm39)	missense	possibly damaging	0.93
R2418:Krt78	UTSW	15	101,855,069 (GRCm39)	missense	probably benign
R2421:Krt78	UTSW	15	101,855,699 (GRCm39)	missense	probably damaging	0.96
R2422:Krt78	UTSW	15	101,855,699 (GRCm39)	missense	probably damaging	0.96
R2443:Krt78	UTSW	15	101,855,033 (GRCm39)	missense	probably damaging	1.00
R2897:Krt78	UTSW	15	101,855,541 (GRCm39)	missense	probably benign
R4422:Krt78	UTSW	15	101,856,375 (GRCm39)	missense	probably benign	0.13
R4424:Krt78	UTSW	15	101,856,375 (GRCm39)	missense	probably benign	0.13
R4425:Krt78	UTSW	15	101,856,375 (GRCm39)	missense	probably benign	0.13
R4583:Krt78	UTSW	15	101,855,055 (GRCm39)	missense	possibly damaging	0.53
R4752:Krt78	UTSW	15	101,856,637 (GRCm39)	missense	probably benign	0.05
R4927:Krt78	UTSW	15	101,855,334 (GRCm39)	missense	probably benign	0.02
R5129:Krt78	UTSW	15	101,856,015 (GRCm39)	missense	possibly damaging	0.70
R5391:Krt78	UTSW	15	101,860,263 (GRCm39)	nonsense	probably null
R5575:Krt78	UTSW	15	101,855,787 (GRCm39)	nonsense	probably null
R5617:Krt78	UTSW	15	101,856,044 (GRCm39)	missense	probably damaging	0.99
R5806:Krt78	UTSW	15	101,858,937 (GRCm39)	missense	probably damaging	1.00
R5906:Krt78	UTSW	15	101,857,030 (GRCm39)	missense	probably damaging	0.98
R5993:Krt78	UTSW	15	101,858,884 (GRCm39)	missense	probably damaging	1.00
R6520:Krt78	UTSW	15	101,860,206 (GRCm39)	missense	probably benign	0.26
R6531:Krt78	UTSW	15	101,860,708 (GRCm39)	missense	probably benign	0.03
R6587:Krt78	UTSW	15	101,860,704 (GRCm39)	missense	probably benign	0.10
R6749:Krt78	UTSW	15	101,859,358 (GRCm39)	missense	probably damaging	1.00
R7126:Krt78	UTSW	15	101,856,871 (GRCm39)	missense	probably damaging	1.00
R7158:Krt78	UTSW	15	101,860,241 (GRCm39)	missense	probably benign	0.17
R7229:Krt78	UTSW	15	101,855,829 (GRCm39)	missense	probably benign	0.01
R7523:Krt78	UTSW	15	101,855,036 (GRCm39)	missense	not run
R7638:Krt78	UTSW	15	101,859,318 (GRCm39)	missense	probably damaging	1.00
R7879:Krt78	UTSW	15	101,856,624 (GRCm39)	missense	probably benign	0.22
R8013:Krt78	UTSW	15	101,856,977 (GRCm39)	missense	probably damaging	0.99
R8085:Krt78	UTSW	15	101,855,715 (GRCm39)	missense	possibly damaging	0.91
R8209:Krt78	UTSW	15	101,855,480 (GRCm39)	missense	possibly damaging	0.56
R8226:Krt78	UTSW	15	101,855,480 (GRCm39)	missense	possibly damaging	0.56
R8309:Krt78	UTSW	15	101,854,922 (GRCm39)	missense	probably benign	0.00
R8728:Krt78	UTSW	15	101,856,225 (GRCm39)	missense	probably benign	0.11
R8729:Krt78	UTSW	15	101,855,455 (GRCm39)	missense	probably damaging	0.98
R8887:Krt78	UTSW	15	101,861,746 (GRCm39)	missense	probably damaging	1.00
R9008:Krt78	UTSW	15	101,855,211 (GRCm39)	small deletion	probably benign
X0018:Krt78	UTSW	15	101,860,235 (GRCm39)	missense	possibly damaging	0.96
Z1088:Krt78	UTSW	15	101,855,766 (GRCm39)	missense	possibly damaging	0.91
Z1177:Krt78	UTSW	15	101,856,095 (GRCm39)	missense	probably benign

Posted On

2014-02-04