Mutagenetix > Incidental Mutation

Incidental Mutation 'R1070:Krt78'

86183

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

039156-MU

Accession Numbers

Essential gene?

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

Stock #

R1070 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101854728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1028 (Y1028H)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164932
AA Change: Y1028H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: Y1028H

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.7%

Validation Efficiency

95% (41/43)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,263 (GRCm39)	D1367G	probably damaging	Het
Actr3b	A	G	5: 26,053,491 (GRCm39)		probably benign	Het
Agtr1b	A	T	3: 20,369,912 (GRCm39)	N231K	probably benign	Het
Bach1	T	C	16: 87,517,009 (GRCm39)	S517P	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hes1	T	C	16: 29,886,101 (GRCm39)	I235T	probably damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Ifi208	C	T	1: 173,510,610 (GRCm39)	A255V	probably damaging	Het
Inhbe	T	C	10: 127,187,382 (GRCm39)	I11M	probably benign	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itih1	G	T	14: 30,664,413 (GRCm39)		probably benign	Het
Kcnk2	A	G	1: 188,988,960 (GRCm39)		probably benign	Het
Kdm4c	T	A	4: 74,291,865 (GRCm39)	Y827*	probably null	Het
Kif5a	T	C	10: 127,081,275 (GRCm39)	T220A	probably benign	Het
Ldc1	T	C	4: 130,112,949 (GRCm39)	E149G	probably benign	Het
Mylk4	T	C	13: 32,908,801 (GRCm39)	D333G	probably benign	Het
Net1	A	T	13: 3,962,930 (GRCm39)	S45T	probably benign	Het
Npat	T	A	9: 53,483,892 (GRCm39)	F1403I	probably damaging	Het
Or5h25	A	G	16: 58,930,182 (GRCm39)	S264P	probably benign	Het
Or5p57	T	C	7: 107,665,858 (GRCm39)	D49G	probably benign	Het
Or7a35	C	T	10: 78,853,684 (GRCm39)	P176L	probably damaging	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pdzd2	A	G	15: 12,390,052 (GRCm39)		probably null	Het
Rab3a	A	G	8: 71,209,840 (GRCm39)	N40S	probably damaging	Het
Raf1	T	C	6: 115,614,660 (GRCm39)	N74D	probably benign	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rimoc1	C	A	15: 4,015,848 (GRCm39)	V239F	probably benign	Het
Sdhb	T	C	4: 140,698,547 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Sult2a8	T	A	7: 14,147,698 (GRCm39)	I198F	probably damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vcam1	C	T	3: 115,904,552 (GRCm39)	V732M	possibly damaging	Het
Vmn2r79	T	C	7: 86,652,681 (GRCm39)	Y458H	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGGCAAGCCAGACTTTATTGAC -3'
(R):5'- TGGAGGCCAAGCAGTTATTCCGAG -3'

Sequencing Primer
(F):5'- TTCTCCAGTGCCCAGTGG -3'
(R):5'- CAGTTATTCCGAGAGGAGACTGTG -3'

Posted On

2013-11-18