Mutagenetix > Incidental Mutation

Incidental Mutation 'R6587:Krt78'

524471

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

044711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101860704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 201 (K201R)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000164932
AA Change: K201R

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: K201R

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

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	2: 25,162,550 (GRCm39)		probably benign	Het
Ank3	G	T	10: 69,825,982 (GRCm39)		probably benign	Het
Ano3	C	A	2: 110,628,249 (GRCm39)		probably null	Het
Arhgap39	A	G	15: 76,621,699 (GRCm39)	S301P	probably damaging	Het
Atad2	G	T	15: 57,984,444 (GRCm39)	Q295K	probably benign	Het
Camkmt	T	C	17: 85,421,243 (GRCm39)	V115A	possibly damaging	Het
Cenpf	T	C	1: 189,390,571 (GRCm39)	E1087G	probably damaging	Het
Cfhr2	T	A	1: 139,738,596 (GRCm39)	I322F	probably benign	Het
Chil6	T	C	3: 106,312,197 (GRCm39)	M35V	probably benign	Het
Cyp3a44	T	C	5: 145,742,569 (GRCm39)	T11A	probably benign	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Ghitm	A	T	14: 36,847,146 (GRCm39)	Y309*	probably null	Het
Klhl18	T	C	9: 110,284,494 (GRCm39)	H64R	probably damaging	Het
Lpar3	T	C	3: 145,946,918 (GRCm39)	F199L	probably damaging	Het
Mindy3	G	A	2: 12,352,927 (GRCm39)	Q425*	probably null	Het
Or5b114-ps1	A	T	19: 13,352,977 (GRCm39)	Y217F	unknown	Het
P2rx7	A	C	5: 122,802,613 (GRCm39)	N207T	probably damaging	Het
Pcdhb7	T	G	18: 37,477,156 (GRCm39)	L764R	probably benign	Het
Pgap6	G	A	17: 26,340,538 (GRCm39)	V641I	probably benign	Het
Sbf2	T	C	7: 110,040,182 (GRCm39)	Y378C	probably damaging	Het
Slc23a2	C	T	2: 131,920,401 (GRCm39)	S168N	possibly damaging	Het
Tmem260	A	G	14: 48,733,913 (GRCm39)		probably null	Het
Tmprss15	T	G	16: 78,868,317 (GRCm39)	L198F	probably benign	Het
Tulp4	C	T	17: 6,282,146 (GRCm39)	T725I	possibly damaging	Het
Tut4	C	A	4: 108,336,646 (GRCm39)	N123K	probably benign	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zp3	A	G	5: 136,016,352 (GRCm39)	D318G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAAACAGCACTTCAGTCAGATC -3'
(R):5'- GTATAGAGAGGCCGTGTGAACC -3'

Sequencing Primer
(F):5'- GTAAATATCCCATCCTGTCAGAGGG -3'
(R):5'- GTGTGAACCCCCTAACAGG -3'

Posted On

2018-06-22