Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Krt78'

562382

Institutional Source

Beutler Lab

Gene Symbol

Krt78

Ensembl Gene

ENSMUSG00000050463

Gene Name

keratin 78

Synonyms

2310030B04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101946001-101954287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101947394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 661 (Y661H)

Ref Sequence

ENSEMBL: ENSMUSP00000126197 (fasta)

Gene Model

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

AlphaFold

E9Q0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000164932
AA Change: Y661H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: Y661H

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,595,352	E122G	probably benign	Het
Adamts2	T	C	11: 50,791,820	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,420,905	S830P	probably benign	Het
Atp1a3	T	A	7: 24,987,985	Q696L	probably benign	Het
Brox	G	A	1: 183,291,959	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,890,242	I197V	probably benign	Het
Cand2	G	A	6: 115,791,192	V433M	probably damaging	Het
Cep83	A	G	10: 94,719,665	K74E	probably damaging	Het
Chrng	A	T	1: 87,209,444	T275S	probably benign	Het
Clca2	T	C	3: 145,084,108	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,695,424		probably null	Het
Cnga1	T	C	5: 72,618,249	N43S	probably benign	Het
Cog8	A	T	8: 107,056,352	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,296,737		probably null	Het
Cyp26b1	G	A	6: 84,577,150	Q162*	probably null	Het
Elmod3	A	G	6: 72,594,753	F14S	probably benign	Het
Eps8	A	G	6: 137,539,356	S9P	probably benign	Het
Fam105a	G	A	15: 27,658,187	T199M	probably benign	Het
Fam184b	T	C	5: 45,584,175	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,977,369	L654S	unknown	Het
Foxp1	A	T	6: 98,935,412	L580Q	unknown	Het
Galr1	A	G	18: 82,405,664	S163P	probably damaging	Het
Ganc	T	C	2: 120,427,775	F201L	possibly damaging	Het
Gin1	T	C	1: 97,785,151	F310L	probably benign	Het
Grik2	A	T	10: 49,101,416		probably null	Het
Haus1	A	T	18: 77,764,134	F94I	probably benign	Het
Hcn4	A	G	9: 58,853,399	Y409C	unknown	Het
Hspa1l	A	G	17: 34,977,255	K90R	probably benign	Het
Icam5	T	C	9: 21,037,001	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,499,556	H315R	probably benign	Het
Klra9	T	C	6: 130,191,261	H14R	probably damaging	Het
Krtap11-1	T	C	16: 89,570,925	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,292,662	S598I	unknown	Het
Lama1	A	T	17: 67,752,446	D608V		Het
Lrrc55	G	A	2: 85,196,440	T80I	probably damaging	Het
Lyst	A	T	13: 13,643,509	T1255S	probably benign	Het
Magi2	T	C	5: 20,465,588	V310A	probably damaging	Het
Med23	C	A	10: 24,902,004	A750D	probably benign	Het
Mmp2	G	A	8: 92,831,786	R161Q	probably damaging	Het
Myo15	A	T	11: 60,496,495	I733F	probably benign	Het
Ncan	A	T	8: 70,100,311	F1090L	possibly damaging	Het
Olfr701	T	G	7: 106,818,995	V304G	probably damaging	Het
Pafah1b1	A	G	11: 74,682,278	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,266,687	Y564N	probably damaging	Het
Pear1	A	G	3: 87,750,289	S988P	probably benign	Het
Pgam2	A	C	11: 5,803,013	V194G	probably damaging	Het
Plvap	A	T	8: 71,511,577	I47N	probably damaging	Het
Prdx6	A	T	1: 161,247,297	L71H	probably damaging	Het
Psmb11	G	A	14: 54,625,951	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,227,225		probably null	Het
Rcn2	T	A	9: 56,057,479	N240K	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Slc12a4	T	G	8: 105,946,737	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,488,048	M1085K	unknown	Het
Smg1	A	T	7: 118,176,955	C1371S	probably benign	Het
Spg11	A	T	2: 122,108,104	F456L	probably damaging	Het
Srsf10	C	T	4: 135,856,217		probably benign	Het
Stxbp5	T	C	10: 9,798,187	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,480,280	D881V	unknown	Het
Tmem171	T	C	13: 98,692,625	T6A	probably benign	Het
Tmem220	T	C	11: 67,026,163	L55P	unknown	Het
Ttn	G	T	2: 76,846,781	P11037Q	unknown	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp47	T	C	7: 112,092,877	S849P	probably benign	Het
Vcan	G	A	13: 89,705,270	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,390,098	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,540,963	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,455,653	R178C	probably damaging	Het
Wdr76	G	A	2: 121,528,920	V231I	probably damaging	Het
Xirp2	A	T	2: 67,525,551	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,258,625	T933A	probably benign	Het
Zmynd8	A	G	2: 165,858,053		probably null	Het
Zranb3	A	T	1: 128,040,893	I95K	probably benign	Het

Other mutations in Krt78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Krt78	APN	15	101947510	missense	probably benign	0.28
IGL01358:Krt78	APN	15	101946263	missense	probably benign	0.18
IGL01723:Krt78	APN	15	101951798	missense	possibly damaging	0.65
IGL01743:Krt78	APN	15	101950898	missense	probably benign	0.06
IGL01778:Krt78	APN	15	101950967	missense	probably damaging	1.00
IGL01792:Krt78	APN	15	101946650	missense	probably benign	0.01
IGL02271:Krt78	APN	15	101948593	missense	probably benign	0.02
IGL02481:Krt78	APN	15	101948418	splice site	probably benign
IGL02494:Krt78	APN	15	101954051	missense	probably benign	0.00
IGL02708:Krt78	APN	15	101953407	missense	possibly damaging	0.88
IGL02747:Krt78	APN	15	101950384	splice site	probably benign
IGL02997:Krt78	APN	15	101947163	missense	probably benign	0.11
IGL03350:Krt78	APN	15	101946517	missense	probably benign	0.02
IGL03410:Krt78	APN	15	101953986	missense	probably damaging	0.99
PIT4812001:Krt78	UTSW	15	101948069	missense	probably damaging	1.00
R0090:Krt78	UTSW	15	101947837	missense	probably benign	0.35
R0513:Krt78	UTSW	15	101950949	missense	probably damaging	1.00
R0908:Krt78	UTSW	15	101950901	missense	probably damaging	1.00
R1067:Krt78	UTSW	15	101946461	nonsense	probably null
R1070:Krt78	UTSW	15	101946293	missense	possibly damaging	0.86
R1194:Krt78	UTSW	15	101951786	missense	probably damaging	0.99
R1213:Krt78	UTSW	15	101951810	missense	probably benign	0.10
R1467:Krt78	UTSW	15	101946293	missense	possibly damaging	0.86
R1467:Krt78	UTSW	15	101946293	missense	possibly damaging	0.86
R1612:Krt78	UTSW	15	101951844	splice site	probably null
R1750:Krt78	UTSW	15	101946377	missense	probably benign	0.33
R1796:Krt78	UTSW	15	101950865	missense	probably damaging	1.00
R1863:Krt78	UTSW	15	101946569	missense	possibly damaging	0.53
R1901:Krt78	UTSW	15	101946963	nonsense	probably null
R1902:Krt78	UTSW	15	101946963	nonsense	probably null
R1975:Krt78	UTSW	15	101946168	makesense	probably null
R2105:Krt78	UTSW	15	101947414	missense	possibly damaging	0.93
R2418:Krt78	UTSW	15	101946634	missense	probably benign
R2421:Krt78	UTSW	15	101947264	missense	probably damaging	0.96
R2422:Krt78	UTSW	15	101947264	missense	probably damaging	0.96
R2443:Krt78	UTSW	15	101946598	missense	probably damaging	1.00
R2897:Krt78	UTSW	15	101947106	missense	probably benign
R4422:Krt78	UTSW	15	101947940	missense	probably benign	0.13
R4424:Krt78	UTSW	15	101947940	missense	probably benign	0.13
R4425:Krt78	UTSW	15	101947940	missense	probably benign	0.13
R4583:Krt78	UTSW	15	101946620	missense	possibly damaging	0.53
R4752:Krt78	UTSW	15	101948202	missense	probably benign	0.05
R4927:Krt78	UTSW	15	101946899	missense	probably benign	0.02
R5129:Krt78	UTSW	15	101947580	missense	possibly damaging	0.70
R5391:Krt78	UTSW	15	101951828	nonsense	probably null
R5575:Krt78	UTSW	15	101947352	nonsense	probably null
R5617:Krt78	UTSW	15	101947609	missense	probably damaging	0.99
R5806:Krt78	UTSW	15	101950502	missense	probably damaging	1.00
R5906:Krt78	UTSW	15	101948595	missense	probably damaging	0.98
R5993:Krt78	UTSW	15	101950449	missense	probably damaging	1.00
R6520:Krt78	UTSW	15	101951771	missense	probably benign	0.26
R6531:Krt78	UTSW	15	101952273	missense	probably benign	0.03
R6587:Krt78	UTSW	15	101952269	missense	probably benign	0.10
R6749:Krt78	UTSW	15	101950923	missense	probably damaging	1.00
R7126:Krt78	UTSW	15	101948436	missense	probably damaging	1.00
R7158:Krt78	UTSW	15	101951806	missense	probably benign	0.17
R7523:Krt78	UTSW	15	101946601	missense	not run
R7638:Krt78	UTSW	15	101950883	missense	probably damaging	1.00
R7879:Krt78	UTSW	15	101948189	missense	probably benign	0.22
R8013:Krt78	UTSW	15	101948542	missense	probably damaging	0.99
R8085:Krt78	UTSW	15	101947280	missense	possibly damaging	0.91
R8209:Krt78	UTSW	15	101947045	missense	possibly damaging	0.56
R8226:Krt78	UTSW	15	101947045	missense	possibly damaging	0.56
R8309:Krt78	UTSW	15	101946487	missense	probably benign	0.00
R8728:Krt78	UTSW	15	101947790	missense	probably benign	0.11
R8729:Krt78	UTSW	15	101947020	missense	probably damaging	0.98
R8887:Krt78	UTSW	15	101953311	missense	probably damaging	1.00
R9008:Krt78	UTSW	15	101946776	small deletion	probably benign
X0018:Krt78	UTSW	15	101951800	missense	possibly damaging	0.96
Z1088:Krt78	UTSW	15	101947331	missense	possibly damaging	0.91
Z1177:Krt78	UTSW	15	101947660	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGATTCTCTTCCAGGCATG -3'
(R):5'- GTGACCATTCCTGGAAGAGAATC -3'

Sequencing Primer
(F):5'- CCAGGCATGGTCACTTGAC -3'
(R):5'- CCATTCCTGGAAGAGAATCTGGAG -3'

Posted On

2019-06-26