Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Krt36'

58459

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

038806-MU

Accession Numbers

Essential gene?

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

Stock #

R0617 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

99992833-99996452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99993101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 458 (D458G)

Ref Sequence

ENSEMBL: ENSMUSP00000103039 (fasta)

Gene Model

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

AlphaFold

B1AQ75

Predicted Effect

probably damaging
Transcript: ENSMUST00000107416
AA Change: D458G

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

SMART Domains

Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: D458G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127883

Meta Mutation Damage Score

0.2105

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	A	T	8: 49,953,527 (GRCm39)		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,603,700 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,032,834 (GRCm39)		probably benign	Het
Abca5	A	T	11: 110,170,515 (GRCm39)	D1265E	probably damaging	Het
Abcf1	C	T	17: 36,272,079 (GRCm39)	V312I	probably benign	Het
Abhd12	T	A	2: 150,688,285 (GRCm39)		probably null	Het
Adam23	A	G	1: 63,582,306 (GRCm39)	H318R	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Adgrf3	T	C	5: 30,400,078 (GRCm39)	T972A	probably benign	Het
Adipoq	T	A	16: 22,974,160 (GRCm39)	D62E	probably damaging	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,807,250 (GRCm39)		probably benign	Het
Arhgef28	G	T	13: 98,106,863 (GRCm39)	T687K	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
Atad2b	C	A	12: 4,987,401 (GRCm39)	D76E	probably benign	Het
Atm	A	T	9: 53,370,241 (GRCm39)	Y2290*	probably null	Het
Atrn	T	A	2: 130,837,005 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Bsn	T	C	9: 107,984,439 (GRCm39)	E3205G	unknown	Het
Cacna1c	T	C	6: 118,579,174 (GRCm39)	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,133,630 (GRCm39)	D590G	probably damaging	Het
Ccdc68	A	G	18: 70,079,623 (GRCm39)		probably null	Het
Ccdc97	G	A	7: 25,413,845 (GRCm39)	R279C	probably damaging	Het
Ccm2l	A	G	2: 152,912,820 (GRCm39)	T120A	probably damaging	Het
Cfap54	T	C	10: 92,665,512 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,028,621 (GRCm39)	S1043P	probably benign	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Cib2	T	C	9: 54,461,780 (GRCm39)	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,019,881 (GRCm39)	V84A	probably damaging	Het
Csn3	T	C	5: 88,077,730 (GRCm39)	Y79H	probably benign	Het
Ddx47	T	A	6: 134,994,085 (GRCm39)	V149E	probably damaging	Het
Dennd5b	A	T	6: 148,934,760 (GRCm39)		probably benign	Het
Desi1	T	C	15: 81,882,399 (GRCm39)	N109D	probably damaging	Het
Fam13c	T	C	10: 70,372,182 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fanca	A	G	8: 124,014,809 (GRCm39)	F831S	probably damaging	Het
Fancm	C	T	12: 65,144,091 (GRCm39)	R518*	probably null	Het
Fat2	A	G	11: 55,202,669 (GRCm39)	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Fgd3	A	T	13: 49,418,173 (GRCm39)	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,245,736 (GRCm39)		probably benign	Het
Focad	T	C	4: 88,039,525 (GRCm39)		probably benign	Het
Foxn4	C	A	5: 114,399,129 (GRCm39)		probably benign	Het
Gm2381	A	T	7: 42,469,402 (GRCm39)	C241S	probably damaging	Het
Gm6483	T	G	8: 19,743,725 (GRCm39)	F117V	probably damaging	Het
Hectd4	T	C	5: 121,481,295 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,455,027 (GRCm39)	Q676L	probably benign	Het
Hipk2	G	A	6: 38,724,420 (GRCm39)	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,298,570 (GRCm39)	Y396H	probably damaging	Het
Ints5	A	T	19: 8,873,383 (GRCm39)	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,666,952 (GRCm39)	Y495C	probably damaging	Het
Itga5	C	T	15: 103,264,742 (GRCm39)		probably null	Het
Kcnk4	T	A	19: 6,905,528 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,474,756 (GRCm39)	T174A	possibly damaging	Het
Krtap16-1	G	T	11: 99,877,321 (GRCm39)	P28T	probably damaging	Het
Lama3	T	C	18: 12,552,315 (GRCm39)		probably null	Het
Lrrc9	T	C	12: 72,529,788 (GRCm39)	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,636,481 (GRCm39)	Y1485F	probably benign	Het
Mical1	C	T	10: 41,357,311 (GRCm39)	A372V	probably damaging	Het
Ms4a20	C	A	19: 11,089,764 (GRCm39)	L40F	probably damaging	Het
Mtr	C	T	13: 12,236,318 (GRCm39)	R636Q	probably benign	Het
Muc4	A	T	16: 32,570,925 (GRCm39)	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,091 (GRCm39)	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,320,991 (GRCm39)	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,366,044 (GRCm39)	T150A	probably damaging	Het
Nicol1	T	C	5: 34,140,896 (GRCm39)		probably benign	Het
Nkx2-1	T	C	12: 56,581,640 (GRCm39)	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540 (GRCm38)		noncoding transcript	Het
Nod2	A	G	8: 89,379,859 (GRCm39)	N120S	probably benign	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or10ag58	A	G	2: 87,265,005 (GRCm39)	D58G	probably damaging	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or51i1	A	T	7: 103,671,196 (GRCm39)	S110T	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5b106	T	C	19: 13,123,727 (GRCm39)	M99V	probably benign	Het
Or5b120	C	A	19: 13,479,900 (GRCm39)	N64K	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pakap	T	C	4: 57,829,434 (GRCm39)		probably benign	Het
Pcdhb8	C	T	18: 37,490,100 (GRCm39)	R593C	probably benign	Het
Pgm3	A	G	9: 86,438,243 (GRCm39)		probably null	Het
Pirt	T	A	11: 66,816,998 (GRCm39)	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,635,230 (GRCm39)	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,256,518 (GRCm39)	V122E	probably damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prmt2	C	T	10: 76,044,517 (GRCm39)		probably benign	Het
Prrc2a	G	T	17: 35,372,536 (GRCm39)	P1702T	probably damaging	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,014 (GRCm39)	I794K	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 109,929,890 (GRCm39)		probably null	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Setx	T	A	2: 29,036,819 (GRCm39)	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,872,938 (GRCm39)	C67R	probably damaging	Het
Skint1	T	A	4: 111,886,596 (GRCm39)		probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,850,073 (GRCm39)	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,844 (GRCm39)	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,508,932 (GRCm39)		probably null	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Svil	T	C	18: 5,117,002 (GRCm39)	S2059P	probably damaging	Het
Syne1	C	T	10: 5,300,933 (GRCm39)	V932M	probably damaging	Het
Tacc1	A	C	8: 25,668,020 (GRCm39)		probably benign	Het
Tbc1d13	C	A	2: 30,025,576 (GRCm39)		probably benign	Het
Tbc1d15	A	C	10: 115,075,204 (GRCm39)	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,619,445 (GRCm39)	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,738,127 (GRCm39)	M5K	probably benign	Het
Tgfbr2	A	T	9: 115,987,388 (GRCm39)	D40E	probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,412,886 (GRCm39)	C129S	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Tnr	A	G	1: 159,695,673 (GRCm39)	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,762,494 (GRCm39)	H465L	unknown	Het
Togaram2	A	T	17: 72,007,504 (GRCm39)	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,578,971 (GRCm39)	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,715,058 (GRCm39)	Q93L	probably benign	Het
Trim54	T	C	5: 31,293,526 (GRCm39)		probably null	Het
Troap	T	A	15: 98,980,541 (GRCm39)	C574S	probably damaging	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Vmn2r51	A	G	7: 9,834,396 (GRCm39)	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,484 (GRCm39)	M642K	probably benign	Het
Vwa5a	T	A	9: 38,635,191 (GRCm39)	I232N	probably damaging	Het
Zfp820	A	T	17: 22,038,685 (GRCm39)	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,381,687 (GRCm39)	T1162M	probably benign	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
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
R6856:Krt36	UTSW	11	99,994,216 (GRCm39)	missense	probably damaging	1.00
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'- GCAGCACCCTCCAAGATTGAGATG -3'
(R):5'- CTTGTTCCACGGAATGCAAGCC -3'

Sequencing Primer
(F):5'- GATTTGCTATGCCAAGAGAACAC -3'
(R):5'- AAGCCTGCTGTAAGAGTACC -3'

Posted On

2013-07-11