Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Krt36'

535273

Institutional Source

Beutler Lab

Gene Symbol

Krt36

Ensembl Gene

ENSMUSG00000020916

Gene Name

keratin 36

Synonyms

Krt1-5, HRa-1, keratin 5, Krt1-22

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99992833-99996452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 99994216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 287 (Q287P)

Ref Sequence

ENSEMBL: ENSMUSP00000103039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107416]

AlphaFold

B1AQ75

Predicted Effect

probably damaging
Transcript: ENSMUST00000107416
AA Change: Q287P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: Q287P

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Filament	92	403	4.05e-163	SMART
low complexity region	425	443	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	Het

Other mutations in Krt36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Krt36	APN	11	99,993,774 (GRCm39)	missense	probably damaging	0.98
IGL01737:Krt36	APN	11	99,994,946 (GRCm39)	missense	possibly damaging	0.62
IGL02388:Krt36	APN	11	99,995,990 (GRCm39)	nonsense	probably null
IGL02985:Krt36	APN	11	99,994,005 (GRCm39)	missense	probably benign	0.32
R0393:Krt36	UTSW	11	99,994,940 (GRCm39)	missense	possibly damaging	0.91
R0617:Krt36	UTSW	11	99,993,101 (GRCm39)	missense	probably damaging	1.00
R0930:Krt36	UTSW	11	99,994,225 (GRCm39)	missense	probably damaging	1.00
R1166:Krt36	UTSW	11	99,993,654 (GRCm39)	missense	probably benign	0.00
R1201:Krt36	UTSW	11	99,994,883 (GRCm39)	missense	probably benign	0.22
R1587:Krt36	UTSW	11	99,993,128 (GRCm39)	missense	probably damaging	1.00
R1750:Krt36	UTSW	11	99,994,884 (GRCm39)	missense	probably benign	0.00
R1826:Krt36	UTSW	11	99,993,856 (GRCm39)	splice site	probably benign
R1846:Krt36	UTSW	11	99,996,374 (GRCm39)	missense	probably damaging	1.00
R2208:Krt36	UTSW	11	99,993,765 (GRCm39)	missense	probably damaging	0.96
R4303:Krt36	UTSW	11	99,994,239 (GRCm39)	missense	possibly damaging	0.59
R5140:Krt36	UTSW	11	99,994,328 (GRCm39)	missense	probably damaging	1.00
R5719:Krt36	UTSW	11	99,994,987 (GRCm39)	missense	possibly damaging	0.95
R5944:Krt36	UTSW	11	99,996,139 (GRCm39)	missense	probably benign
R6188:Krt36	UTSW	11	99,993,246 (GRCm39)	missense	probably benign	0.00
R6271:Krt36	UTSW	11	99,995,298 (GRCm39)	nonsense	probably null
R6809:Krt36	UTSW	11	99,996,335 (GRCm39)	missense	probably benign	0.00
R7153:Krt36	UTSW	11	99,995,972 (GRCm39)	nonsense	probably null
R7602:Krt36	UTSW	11	99,993,786 (GRCm39)	missense	probably benign	0.00
R7822:Krt36	UTSW	11	99,994,966 (GRCm39)	missense	possibly damaging	0.86
R7894:Krt36	UTSW	11	99,996,061 (GRCm39)	missense	probably damaging	1.00
R8234:Krt36	UTSW	11	99,995,027 (GRCm39)	missense	probably damaging	1.00
R8480:Krt36	UTSW	11	99,993,635 (GRCm39)	missense	possibly damaging	0.95
R8904:Krt36	UTSW	11	99,996,173 (GRCm39)	missense	probably benign	0.00
R8969:Krt36	UTSW	11	99,993,129 (GRCm39)	missense	probably damaging	0.98
R8987:Krt36	UTSW	11	99,994,372 (GRCm39)	missense	possibly damaging	0.74
R9297:Krt36	UTSW	11	99,994,271 (GRCm39)	missense	probably damaging	1.00
R9314:Krt36	UTSW	11	99,994,227 (GRCm39)	nonsense	probably null
R9387:Krt36	UTSW	11	99,994,906 (GRCm39)	missense	probably damaging	1.00
R9585:Krt36	UTSW	11	99,994,892 (GRCm39)	missense	probably damaging	1.00
Z1088:Krt36	UTSW	11	99,995,015 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TCGATCTCCAGGGAGTTGACTG -3'
(R):5'- GAACCTTTCCACAGCCTCATG -3'

Sequencing Primer
(F):5'- GACTGTGCGTCTCAGCTCAATG -3'
(R):5'- TATCTTACTTGGCCACTGCAGGAAG -3'

Posted On

2018-09-12