Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Krt78'

295233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

101946001-101954287 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 101948418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000164932

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,363,794	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,574,646	V117I	probably benign	Het
Cdkl2	A	T	5: 92,037,271	I87N	probably damaging	Het
Cfap57	T	A	4: 118,581,105	E863V	probably damaging	Het
Clca2	G	A	3: 145,084,940	S457L	possibly damaging	Het
Crim1	C	T	17: 78,350,798	T702I	probably damaging	Het
Cysltr1	C	A	X: 106,578,122	V253L	probably damaging	Het
Dgcr6	G	A	16: 18,065,174	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,319,080		probably null	Het
Dnm3	A	G	1: 162,010,902	S826P	probably damaging	Het
Dspp	A	G	5: 104,175,648	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,975,551		probably benign	Het
Erc2	T	A	14: 27,653,071	L82Q	probably damaging	Het
Ercc6l	T	C	X: 102,144,669	T745A	probably benign	Het
Gata4	T	C	14: 63,200,461	T414A	probably benign	Het
Gmps	A	G	3: 64,014,352	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868	Y873H	probably damaging	Het
Gsr	T	C	8: 33,685,541		probably benign	Het
Gtf2h1	T	C	7: 46,804,993	L133P	probably damaging	Het
Ifna5	A	C	4: 88,836,090	E189A	probably benign	Het
Irx5	A	G	8: 92,360,679	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,622,383	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,354,561		probably benign	Het
Kif19a	A	G	11: 114,789,153	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lca5	A	T	9: 83,423,117	I212N	probably damaging	Het
Lgr6	T	C	1: 135,001,691		probably benign	Het
Madd	T	G	2: 91,178,036	T174P	probably damaging	Het
Mcm9	A	G	10: 53,625,937	I184T	probably damaging	Het
Mlycd	G	A	8: 119,410,334	R431H	probably damaging	Het
Myh10	G	A	11: 68,802,168	A1393T	probably benign	Het
Myof	G	T	19: 37,937,913	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,625,995	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,194,734	T366S	probably benign	Het
Nnat	T	C	2: 157,561,247	F36S	possibly damaging	Het
Nsd3	C	A	8: 25,691,116	P915T	probably damaging	Het
Olfr117	A	G	17: 37,659,472	L287P	probably damaging	Het
Olfr1335	C	T	4: 118,809,499	V122M	probably benign	Het
Olfr351	A	T	2: 36,859,818	C177S	probably damaging	Het
Olfr370	A	C	8: 83,541,386	M81L	possibly damaging	Het
Olfr723	G	A	14: 49,928,707	T279I	probably damaging	Het
Pkd1l3	A	G	8: 109,614,782	N89S	unknown	Het
Pkd2	T	C	5: 104,486,770	F556L	probably damaging	Het
Psen2	T	A	1: 180,235,061	M239L	probably damaging	Het
Rad50	A	G	11: 53,680,049	I794T	probably benign	Het
Ralgps1	G	A	2: 33,340,729	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,915,907	P250S	probably damaging	Het
Slc47a2	A	G	11: 61,336,241	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,283,993	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,414,154	E308D	probably benign	Het
Wdr61	T	C	9: 54,728,261	I19V	probably damaging	Het
Zfhx4	G	A	3: 5,411,843	E3148K	probably damaging	Het

Other mutations in Krt78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02494:Krt78	APN	15	101954051	missense	probably benign	0.00
IGL02708:Krt78	APN	15	101953407	missense	possibly damaging	0.88
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
R7879:Krt78	UTSW	15	101948189	missense	probably benign	0.22
R8013:Krt78	UTSW	15	101948542	missense	probably damaging	0.99
R8085:Krt78	UTSW	15	101947280	missense	possibly damaging	0.91
R8209:Krt78	UTSW	15	101947045	missense	possibly damaging	0.56
R8226:Krt78	UTSW	15	101947045	missense	possibly damaging	0.56
R8309:Krt78	UTSW	15	101946487	missense	probably benign	0.00
R8728:Krt78	UTSW	15	101947790	missense	probably benign	0.11
R8729:Krt78	UTSW	15	101947020	missense	probably damaging	0.98
R8887:Krt78	UTSW	15	101953311	missense	probably damaging	1.00
R9008:Krt78	UTSW	15	101946776	small deletion	probably benign
X0018:Krt78	UTSW	15	101951800	missense	possibly damaging	0.96
Z1088:Krt78	UTSW	15	101947331	missense	possibly damaging	0.91
Z1177:Krt78	UTSW	15	101947660	missense	probably benign

Posted On

2015-04-16