Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03350:Krt78'

419644

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 #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101854952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 953 (M953K)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000164932
AA Change: M953K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: M953K

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,022,589 (GRCm39)	Y300*	probably null	Het
Adgre1	T	A	17: 57,708,908 (GRCm39)	V33E	probably benign	Het
AI987944	A	G	7: 41,042,661 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,420,292 (GRCm39)	L813P	probably damaging	Het
Blmh	A	G	11: 76,862,774 (GRCm39)	N396D	probably damaging	Het
Brat1	T	C	5: 140,691,750 (GRCm39)	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,599,615 (GRCm39)	I810T	possibly damaging	Het
Clec2m	C	A	6: 129,307,986 (GRCm39)	V28L	probably benign	Het
Cyp2a22	T	C	7: 26,634,279 (GRCm39)	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,674,420 (GRCm39)	T280I	probably benign	Het
Fa2h	C	T	8: 112,075,928 (GRCm39)	V232I	probably benign	Het
Fbxw24	T	C	9: 109,436,081 (GRCm39)	D317G	probably damaging	Het
Flt4	C	A	11: 49,525,620 (GRCm39)	S722*	probably null	Het
Fryl	T	C	5: 73,290,649 (GRCm39)	Q85R	probably damaging	Het
Gm3239	A	G	14: 15,882,083 (GRCm39)	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,554,717 (GRCm39)	S456R	probably damaging	Het
Htr1b	T	C	9: 81,514,175 (GRCm39)	Y144C	probably damaging	Het
Hydin	A	G	8: 111,038,856 (GRCm39)	H198R	possibly damaging	Het
Lgr5	G	T	10: 115,307,893 (GRCm39)	T255K	probably damaging	Het
Lrp2	T	A	2: 69,268,797 (GRCm39)	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,345,201 (GRCm39)	D342G	probably damaging	Het
Miip	A	G	4: 147,946,979 (GRCm39)	V258A	probably benign	Het
Muc6	T	C	7: 141,238,324 (GRCm39)	H52R	probably damaging	Het
Nfs1	T	C	2: 155,969,660 (GRCm39)	E329G	probably benign	Het
Npsr1	T	C	9: 24,009,605 (GRCm39)	V37A	probably benign	Het
Or1ak2	T	C	2: 36,827,595 (GRCm39)	Y155H	probably damaging	Het
Or1e17	A	T	11: 73,831,664 (GRCm39)	L197F	probably damaging	Het
Or5aq1b	A	C	2: 86,901,904 (GRCm39)	D191E	probably damaging	Het
Pex16	T	A	2: 92,207,842 (GRCm39)	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,285,517 (GRCm39)	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,588,460 (GRCm39)	D103V	probably damaging	Het
Pnpla1	A	G	17: 29,095,966 (GRCm39)	D129G	probably damaging	Het
Rad23a	T	C	8: 85,564,108 (GRCm39)	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,397,696 (GRCm39)	P209S	probably benign	Het
Ribc2	T	A	15: 85,019,703 (GRCm39)	W162R	probably damaging	Het
Rnf4	A	G	5: 34,504,204 (GRCm39)	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,320,154 (GRCm39)	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,291,558 (GRCm39)	Y240F	probably benign	Het
Sorbs2	C	T	8: 46,258,844 (GRCm39)	P1047L	probably damaging	Het
Ttn	T	C	2: 76,580,166 (GRCm39)	I23576V	probably damaging	Het
Usp24	T	G	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Wee2	T	C	6: 40,426,665 (GRCm39)	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188 (GRCm39)	T126A	probably benign	Het
Zpld1	A	G	16: 55,061,692 (GRCm39)		probably benign	Het
Zup1	G	A	10: 33,804,107 (GRCm39)	R456C	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
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
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

2016-08-02