Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:Krt78'

394925

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

042717-MU

Accession Numbers

Essential gene?

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

Stock #

R5129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101856015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 599 (V599L)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164932
AA Change: V599L

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: V599L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,260,786 (GRCm39)		noncoding transcript	Het
Abcf1	C	T	17: 36,271,687 (GRCm39)		probably benign	Het
Adamts14	T	A	10: 61,085,397 (GRCm39)	D209V	probably benign	Het
Aldh3b1	A	G	19: 3,965,336 (GRCm39)	F392L	probably benign	Het
Atp1a2	A	T	1: 172,103,522 (GRCm39)	D999E	probably benign	Het
Capn7	T	C	14: 31,066,468 (GRCm39)	V94A	probably damaging	Het
Cdh13	A	G	8: 119,821,954 (GRCm39)	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col6a4	T	C	9: 105,890,576 (GRCm39)	E1906G	probably damaging	Het
Daw1	T	C	1: 83,183,624 (GRCm39)	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,336,090 (GRCm39)	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,218,739 (GRCm39)	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,351,201 (GRCm39)	Y425F	possibly damaging	Het
Fam43b	A	T	4: 138,122,783 (GRCm39)	L179*	probably null	Het
Fbxw28	A	G	9: 109,155,671 (GRCm39)	L314P	probably damaging	Het
Fstl4	C	A	11: 53,077,266 (GRCm39)	D674E	probably damaging	Het
G3bp1	T	C	11: 55,379,942 (GRCm39)	V92A	possibly damaging	Het
Gm3604	A	T	13: 62,517,588 (GRCm39)	Y257N	probably benign	Het
Gm5900	A	G	7: 104,599,223 (GRCm39)		noncoding transcript	Het
Hectd4	G	A	5: 121,481,573 (GRCm39)	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,006,608 (GRCm39)	K1069E	probably damaging	Het
Hlf	T	C	11: 90,281,078 (GRCm39)	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,400,306 (GRCm39)	C18*	probably null	Het
Kdm5a	T	C	6: 120,381,983 (GRCm39)	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,751 (GRCm39)	Y1211C	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Nbas	T	C	12: 13,440,961 (GRCm39)	L1097P	probably damaging	Het
Nf2	A	C	11: 4,766,145 (GRCm39)	D87E	probably benign	Het
Or10d4c	T	A	9: 39,558,790 (GRCm39)	I256N	probably benign	Het
Or14j2	T	C	17: 37,886,071 (GRCm39)	Y81C	probably damaging	Het
Ppil3	A	G	1: 58,479,992 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,379,154 (GRCm39)	E276G	unknown	Het
Semp2l1	C	A	1: 32,584,560 (GRCm39)	R450M	probably damaging	Het
Semp2l1	T	A	1: 32,584,561 (GRCm39)	R450W	probably damaging	Het
Spata16	A	G	3: 26,721,713 (GRCm39)	E78G	probably damaging	Het
Tlr3	A	T	8: 45,856,018 (GRCm39)	I54K	probably damaging	Het
Tmem72	A	G	6: 116,678,974 (GRCm39)	L34P	probably damaging	Het
Triobp	A	G	15: 78,845,296 (GRCm39)	R213G	probably benign	Het
Tyrp1	T	A	4: 80,764,844 (GRCm39)	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,052,621 (GRCm39)	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592 (GRCm39)	T484A	probably benign	Het
Vcan	T	C	13: 89,838,359 (GRCm39)	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,723,378 (GRCm39)	I273N	probably damaging	Het
Zfp451	C	T	1: 33,842,014 (GRCm39)		probably benign	Het
Zfp457	T	C	13: 67,441,420 (GRCm39)	E385G	probably benign	Het
Zfp74	C	T	7: 29,631,880 (GRCm39)	M121I	probably benign	Het
Zfp866	A	T	8: 70,220,359 (GRCm39)		probably null	Het
Zfp874a	A	T	13: 67,591,100 (GRCm39)	C195S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCATATTCTCTTCCAGGCACGG -3'
(R):5'- TCCTGGAAGAGGATCTGGAG -3'

Sequencing Primer
(F):5'- TCTTCCAGGCACGGTCACC -3'
(R):5'- TCTGGAGGCCAAGTGACTG -3'

Posted On

2016-06-21