Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Krt78'

295764

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 #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101862486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 58 (I58M)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000164932
AA Change: I58M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: I58M

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138 (GRCm39)	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,198,697 (GRCm39)	R242G	probably benign	Het
Ash1l	T	A	3: 88,973,525 (GRCm39)	L2528*	probably null	Het
Astn2	T	A	4: 65,910,585 (GRCm39)	M468L	probably benign	Het
Bglap2	A	T	3: 88,285,243 (GRCm39)	C74*	probably null	Het
Cand1	A	G	10: 119,049,522 (GRCm39)	V408A	probably benign	Het
Ccdc14	A	G	16: 34,543,784 (GRCm39)	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,911,734 (GRCm39)	G707D	probably benign	Het
Cdk13	G	A	13: 17,913,710 (GRCm39)	R890*	probably null	Het
Cep192	A	G	18: 67,937,453 (GRCm39)	E61G	probably benign	Het
Ctdspl	T	C	9: 118,866,484 (GRCm39)	L181P	probably damaging	Het
Dock7	C	T	4: 98,877,471 (GRCm39)	V442M	probably benign	Het
Dop1a	T	C	9: 86,408,871 (GRCm39)	V1860A	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fscn2	G	A	11: 120,253,228 (GRCm39)	V232M	probably benign	Het
Gemin5	A	T	11: 58,012,583 (GRCm39)	C1458S	probably benign	Het
Glrb	A	G	3: 80,752,539 (GRCm39)	V408A	probably benign	Het
Gtse1	C	T	15: 85,751,704 (GRCm39)	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,893,559 (GRCm39)	M46K	probably damaging	Het
Hdc	A	G	2: 126,436,041 (GRCm39)	F610S	probably benign	Het
Hip1	A	T	5: 135,473,645 (GRCm39)	C224*	probably null	Het
Hsd17b10	G	T	X: 150,787,230 (GRCm39)	A241S	probably benign	Het
Igsf10	G	T	3: 59,235,427 (GRCm39)	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,960,233 (GRCm39)	Y514H	probably damaging	Het
Lcat	C	A	8: 106,668,571 (GRCm39)		probably benign	Het
Naca	G	A	10: 127,877,179 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,712,772 (GRCm39)	K2102E	probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or1e35	A	C	11: 73,797,550 (GRCm39)	I256S	possibly damaging	Het
Or4b1b	G	A	2: 90,112,295 (GRCm39)	S208F	probably benign	Het
Or4n4	A	T	14: 50,519,683 (GRCm39)	V9D	probably damaging	Het
Or7c19	C	A	8: 85,957,312 (GRCm39)	L63I	possibly damaging	Het
Patj	T	A	4: 98,592,224 (GRCm39)		probably benign	Het
Pcdhb17	G	A	18: 37,618,347 (GRCm39)	A46T	possibly damaging	Het
Phf8	T	C	X: 150,408,227 (GRCm39)	V859A	probably benign	Het
Plec	T	A	15: 76,060,979 (GRCm39)	E3054V	probably damaging	Het
Prr12	C	A	7: 44,678,270 (GRCm39)	K1958N	unknown	Het
Psmf1	A	G	2: 151,582,929 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,222,002 (GRCm39)		probably null	Het
Samm50	T	C	15: 84,080,015 (GRCm39)	V31A	probably benign	Het
St14	A	G	9: 31,019,941 (GRCm39)	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,590,360 (GRCm39)	N699S	probably damaging	Het
Ttn	A	T	2: 76,574,144 (GRCm39)	M25583K	probably damaging	Het
Utrn	A	G	10: 12,585,798 (GRCm39)	V993A	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
IGL01778:Krt78	APN	15	101,859,402 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16