Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Krt78'

212256

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

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

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101854436-101862722 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101855398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 804 (C804*)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably null
Transcript: ENSMUST00000164932
AA Change: C804*

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: C804*

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: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	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
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'- ATTCTCCTCTAGGCACGGTC -3'
(R):5'- CATGCCTGGAAGAGAATCTGG -3'

Sequencing Primer
(F):5'- TCTAGGCACGGTCACCTG -3'
(R):5'- TGACCGTGCCTGGAAGAG -3'

Posted On

2014-06-30