Mutagenetix > Incidental Mutation

Incidental Mutation 'R6014:Krt13'

479931

Institutional Source

Beutler Lab

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

Krt1-13, K13, Krt-1.13

MMRRC Submission

044190-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6014 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

100008153-100012392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100008437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 433 (D433E)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007275]

AlphaFold

P08730

Predicted Effect

unknown
Transcript: ENSMUST00000007275
AA Change: D433E

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: D433E

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	1.02e-5	PROSPERO
internal_repeat_1	16	32	1.02e-5	PROSPERO
low complexity region	39	94	N/A	INTRINSIC
Filament	95	407	7.21e-169	SMART
low complexity region	409	430	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134282

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,244,881 (GRCm39)	M157K	probably benign	Het
A2ml1	C	T	6: 128,548,948 (GRCm39)	C278Y	probably damaging	Het
Abcc2	A	T	19: 43,815,174 (GRCm39)	Q1187L	probably benign	Het
Adcy9	A	T	16: 4,236,683 (GRCm39)	Y6N	probably damaging	Het
Adh1	T	C	3: 137,992,559 (GRCm39)	I225T	probably benign	Het
Akap11	A	T	14: 78,749,939 (GRCm39)	I816K	probably benign	Het
Ap1b1	T	A	11: 4,969,364 (GRCm39)	M240K	possibly damaging	Het
Apex1	A	T	14: 51,162,982 (GRCm39)	T17S	probably benign	Het
Arhgap21	C	T	2: 20,886,616 (GRCm39)	G26D	probably damaging	Het
Bahcc1	A	G	11: 120,180,615 (GRCm39)	Y2613C	probably benign	Het
Baz1b	C	T	5: 135,246,248 (GRCm39)	R566W	probably damaging	Het
Casp8ap2	A	T	4: 32,641,400 (GRCm39)	Y818F	probably damaging	Het
Col3a1	T	A	1: 45,360,739 (GRCm39)	C56*	probably null	Het
Coro2a	G	A	4: 46,542,261 (GRCm39)	P371S	probably damaging	Het
Cyp2a22	T	A	7: 26,638,605 (GRCm39)		probably null	Het
Dpysl3	T	A	18: 43,494,132 (GRCm39)	I183F	probably damaging	Het
Drc1	A	T	5: 30,502,993 (GRCm39)	N172I	probably damaging	Het
Dst	T	C	1: 34,303,915 (GRCm39)	Y1378H	probably damaging	Het
Dync2i2	C	T	2: 29,921,763 (GRCm39)	A533T	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l3	A	T	17: 69,590,955 (GRCm39)	T91S	probably damaging	Het
Exoc4	T	C	6: 33,452,932 (GRCm39)	V474A	probably benign	Het
Fam229b	G	A	10: 38,994,989 (GRCm39)	T56I	probably damaging	Het
Gfm2	A	G	13: 97,288,169 (GRCm39)		probably null	Het
Git2	C	T	5: 114,871,938 (GRCm39)	E152K	probably benign	Het
Golt1b	T	A	6: 142,341,943 (GRCm39)	I109N	probably damaging	Het
Grid2ip	T	A	5: 143,373,578 (GRCm39)	M783K	possibly damaging	Het
Inpp5a	A	G	7: 139,154,898 (GRCm39)	Y339C	probably damaging	Het
Isoc2a	T	C	7: 4,894,625 (GRCm39)	S103P	probably damaging	Het
Itih4	C	A	14: 30,614,586 (GRCm39)	Q483K	probably benign	Het
Kansl2	A	G	15: 98,418,197 (GRCm39)		probably null	Het
Kdm5d	G	A	Y: 921,528 (GRCm39)	A509T	probably benign	Het
Lat2	C	T	5: 134,632,308 (GRCm39)	V142M	probably damaging	Het
Lemd1	A	C	1: 132,184,463 (GRCm39)	*102S	probably null	Het
Lrfn2	T	C	17: 49,376,934 (GRCm39)	L5P	possibly damaging	Het
Lrrc4c	T	G	2: 97,459,557 (GRCm39)		probably null	Het
Lypla1	T	A	1: 4,878,594 (GRCm39)		probably null	Het
Magi2	G	A	5: 20,816,091 (GRCm39)	G744R	probably damaging	Het
Myh14	T	A	7: 44,274,502 (GRCm39)	E948V	probably null	Het
Myo5a	C	A	9: 75,074,489 (GRCm39)	Y799*	probably null	Het
Nacc1	A	C	8: 85,401,700 (GRCm39)	M371R	possibly damaging	Het
Nlrp5	T	G	7: 23,109,372 (GRCm39)	M106R	probably benign	Het
Oas1h	C	T	5: 121,005,229 (GRCm39)	H226Y	possibly damaging	Het
Obscn	A	C	11: 58,929,690 (GRCm39)	I5175R	probably damaging	Het
Pcdh7	T	A	5: 57,878,497 (GRCm39)	I684N	probably damaging	Het
Pcdhb3	T	A	18: 37,435,706 (GRCm39)	N557K	probably damaging	Het
Pde3b	T	C	7: 114,015,675 (GRCm39)	L297S	probably damaging	Het
Pigv	G	T	4: 133,392,740 (GRCm39)	H143Q	probably benign	Het
Ptk2	T	G	15: 73,176,293 (GRCm39)	Y251S	possibly damaging	Het
Ralgds	A	G	2: 28,433,673 (GRCm39)	N219S	probably damaging	Het
Sardh	C	A	2: 27,087,540 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,356 (GRCm39)	K212N	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,971 (GRCm39)	N461D	probably benign	Het
Shisa2	A	T	14: 59,867,357 (GRCm39)	Q203L	probably damaging	Het
Shmt1	C	A	11: 60,688,383 (GRCm39)	G255V	probably damaging	Het
Socs1	T	A	16: 10,602,357 (GRCm39)	I127F	possibly damaging	Het
Srcap	A	T	7: 127,137,922 (GRCm39)	T1091S	probably benign	Het
Syt14	A	G	1: 192,613,003 (GRCm39)	I599T	probably damaging	Het
Tep1	A	T	14: 51,084,457 (GRCm39)	N907K	probably benign	Het
Themis2	A	G	4: 132,513,291 (GRCm39)	Y312H	probably benign	Het
Tubgcp5	T	G	7: 55,473,357 (GRCm39)	S812A	probably benign	Het
Ush2a	A	T	1: 188,582,237 (GRCm39)	I3767F	probably damaging	Het
Usp40	T	A	1: 87,907,738 (GRCm39)	E626V	probably damaging	Het
Utrn	T	C	10: 12,566,620 (GRCm39)	R1181G	probably benign	Het
Vmn2r117	T	A	17: 23,698,535 (GRCm39)	I13F	probably damaging	Het
Wdr48	G	T	9: 119,753,775 (GRCm39)	V646F	probably damaging	Het
Wdr64	T	C	1: 175,633,556 (GRCm39)	F936L	possibly damaging	Het

Other mutations in Krt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Krt13	APN	11	100,010,539 (GRCm39)	missense	probably damaging	1.00
IGL02532:Krt13	APN	11	100,010,195 (GRCm39)	missense	probably damaging	1.00
IGL02934:Krt13	APN	11	100,009,910 (GRCm39)	missense	probably damaging	0.99
PIT4651001:Krt13	UTSW	11	100,010,862 (GRCm39)	missense	probably damaging	0.98
R0092:Krt13	UTSW	11	100,012,258 (GRCm39)	nonsense	probably null
R0722:Krt13	UTSW	11	100,009,979 (GRCm39)	missense	probably damaging	1.00
R1228:Krt13	UTSW	11	100,012,303 (GRCm39)	missense	probably benign	0.18
R1400:Krt13	UTSW	11	100,012,110 (GRCm39)	missense	probably damaging	1.00
R1751:Krt13	UTSW	11	100,011,926 (GRCm39)	missense	possibly damaging	0.84
R1767:Krt13	UTSW	11	100,011,926 (GRCm39)	missense	possibly damaging	0.84
R2420:Krt13	UTSW	11	100,010,877 (GRCm39)	missense	probably benign	0.43
R2421:Krt13	UTSW	11	100,010,877 (GRCm39)	missense	probably benign	0.43
R2869:Krt13	UTSW	11	100,008,475 (GRCm39)	missense	unknown
R2869:Krt13	UTSW	11	100,008,475 (GRCm39)	missense	unknown
R4421:Krt13	UTSW	11	100,009,761 (GRCm39)	missense	possibly damaging	0.94
R4451:Krt13	UTSW	11	100,008,827 (GRCm39)	missense	unknown
R4520:Krt13	UTSW	11	100,010,174 (GRCm39)	missense	probably damaging	0.99
R4632:Krt13	UTSW	11	100,012,050 (GRCm39)	missense	possibly damaging	0.96
R4656:Krt13	UTSW	11	100,010,189 (GRCm39)	missense	probably damaging	1.00
R4872:Krt13	UTSW	11	100,012,332 (GRCm39)	start gained	probably benign
R5709:Krt13	UTSW	11	100,008,469 (GRCm39)	missense	unknown
R6323:Krt13	UTSW	11	100,011,976 (GRCm39)	missense	probably damaging	1.00
R6391:Krt13	UTSW	11	100,010,202 (GRCm39)	missense	probably damaging	0.96
R7535:Krt13	UTSW	11	100,008,824 (GRCm39)	missense	unknown
R7562:Krt13	UTSW	11	100,010,162 (GRCm39)	missense	probably damaging	1.00
R7867:Krt13	UTSW	11	100,012,008 (GRCm39)	missense	probably damaging	1.00
R7992:Krt13	UTSW	11	100,008,478 (GRCm39)	missense	unknown
R8379:Krt13	UTSW	11	100,009,706 (GRCm39)	missense	probably damaging	0.99
R8429:Krt13	UTSW	11	100,011,951 (GRCm39)	missense	probably damaging	1.00
R8560:Krt13	UTSW	11	100,009,676 (GRCm39)	missense	possibly damaging	0.85
R8728:Krt13	UTSW	11	100,012,318 (GRCm39)	missense	probably null	0.73
R8879:Krt13	UTSW	11	100,010,211 (GRCm39)	missense	probably benign	0.00
R8973:Krt13	UTSW	11	100,010,264 (GRCm39)	missense	possibly damaging	0.83
R9610:Krt13	UTSW	11	100,012,318 (GRCm39)	missense	probably benign	0.18
R9611:Krt13	UTSW	11	100,012,318 (GRCm39)	missense	probably benign	0.18
R9746:Krt13	UTSW	11	100,011,987 (GRCm39)	missense	possibly damaging	0.90
X0013:Krt13	UTSW	11	100,010,174 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTGTAGAGACACTGAGAAGCC -3'
(R):5'- TGGGAACAATGATAGCATCCCC -3'

Sequencing Primer
(F):5'- TTCCAATCAGAAGAGATGGGG -3'
(R):5'- ATCCCCACCCACATACCTCTTG -3'

Posted On

2017-06-26