Mutagenetix > Incidental Mutation

Incidental Mutation 'R2443:Krt78'

249886

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

040401-MU

Accession Numbers

Essential gene?

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

Stock #

R2443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101855033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 926 (G926E)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164932
AA Change: G926E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: G926E

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc13	C	T	9: 102,511,222 (GRCm39)	P37S	probably damaging	Het
Asxl3	T	A	18: 22,544,596 (GRCm39)	D39E	probably benign	Het
Cfap91	A	G	16: 38,123,094 (GRCm39)	Y645H	probably damaging	Het
Clec4d	G	A	6: 123,245,076 (GRCm39)	V119M	probably benign	Het
Dennd11	T	C	6: 40,383,710 (GRCm39)	D444G	probably damaging	Het
Dlx2	A	G	2: 71,376,349 (GRCm39)	S130P	probably benign	Het
Dync2li1	C	A	17: 84,955,093 (GRCm39)	Q251K	probably benign	Het
Edem1	A	T	6: 108,828,230 (GRCm39)	K518N	probably benign	Het
Elapor1	A	T	3: 108,388,665 (GRCm39)	N239K	probably damaging	Het
Fbln2	T	C	6: 91,236,693 (GRCm39)	V736A	probably damaging	Het
Fga	A	G	3: 82,935,848 (GRCm39)	K25R	probably benign	Het
Hmcn1	C	A	1: 150,474,783 (GRCm39)	R4701S	probably benign	Het
Ighv8-5	G	A	12: 115,031,440 (GRCm39)	P33L	probably damaging	Het
Kcnip3	T	A	2: 127,301,983 (GRCm39)	I194F	probably damaging	Het
Kif26b	A	C	1: 178,742,579 (GRCm39)	I892L	probably damaging	Het
Map1b	T	C	13: 99,566,919 (GRCm39)	Y1934C	unknown	Het
Masp1	A	T	16: 23,295,062 (GRCm39)	Y400N	probably damaging	Het
Methig1	T	C	15: 100,251,092 (GRCm39)	M1T	probably null	Het
Mmp19	A	G	10: 128,634,725 (GRCm39)	E447G	possibly damaging	Het
Ms4a6d	G	A	19: 11,567,557 (GRCm39)	H115Y	possibly damaging	Het
Myo1e	C	T	9: 70,234,454 (GRCm39)	S269L	probably benign	Het
Myo7a	G	A	7: 97,744,976 (GRCm39)	T288I	probably benign	Het
Npy5r	T	A	8: 67,133,942 (GRCm39)	K284*	probably null	Het
Oas3	C	A	5: 120,915,553 (GRCm39)	R46L	probably benign	Het
Or5l14	A	T	2: 87,793,209 (GRCm39)	V9E	possibly damaging	Het
Pkd1l3	T	A	8: 110,350,447 (GRCm39)	S431T	probably benign	Het
Pnpla2	T	C	7: 141,037,982 (GRCm39)	V184A	possibly damaging	Het
Pomt2	C	A	12: 87,180,154 (GRCm39)	K282N	probably damaging	Het
Psmd12	T	A	11: 107,386,563 (GRCm39)	M378K	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Strn3	A	T	12: 51,674,618 (GRCm39)	Y389N	probably damaging	Het
Tdrd1	C	T	19: 56,829,786 (GRCm39)	A220V	probably null	Het
Tecpr2	T	G	12: 110,862,759 (GRCm39)	L57R	probably damaging	Het
Tkfc	A	G	19: 10,571,902 (GRCm39)	L378P	probably damaging	Het
Tmprss2	T	G	16: 97,369,703 (GRCm39)	D357A	possibly damaging	Het
Tollip	C	T	7: 141,444,560 (GRCm39)	W64*	probably null	Het
Vcan	A	G	13: 89,852,794 (GRCm39)	F722S	probably damaging	Het
Vcp	A	T	4: 42,983,385 (GRCm39)	N558K	probably damaging	Het
Vmn1r232	A	G	17: 21,133,646 (GRCm39)	I318T	probably damaging	Het
Vmn1r33	A	T	6: 66,588,957 (GRCm39)	I199K	possibly damaging	Het
Zfp61	A	G	7: 23,991,194 (GRCm39)	V319A	probably benign	Het
Zfyve28	A	G	5: 34,374,238 (GRCm39)	V592A	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
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'- ACATTCTCCTCTGGGCATGG -3'
(R):5'- AATATGGAGGCCAGGTGACC -3'

Sequencing Primer
(F):5'- TCTGGGCATGGACACTTGAC -3'
(R):5'- AGGTGACCGTGCCTAGAG -3'

Posted On

2014-11-12