Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Krt13'

662593

Institutional Source

Beutler Lab

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

K13, Krt-1.13, Krt1-13

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100117327-100121566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100121492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 2 (S2R)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

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

AlphaFold

P08730

Predicted Effect

probably null
Transcript: ENSMUST00000007275
AA Change: S2R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: S2R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,312	T514A	probably benign	Het
Adam2	A	G	14: 66,057,637	L253P	probably damaging	Het
Adamts20	C	T	15: 94,331,400	G946D	probably benign	Het
Afdn	A	G	17: 13,898,945	R1648G	probably damaging	Het
Ak9	G	A	10: 41,406,963	A1242T		Het
Anxa9	T	C	3: 95,302,668	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,088	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,746,106	M122L	possibly damaging	Het
Bms1	A	G	6: 118,392,370	I990T	possibly damaging	Het
Cdk14	G	A	5: 5,420,117		silent	Het
Celsr3	T	C	9: 108,846,741	L2899S	probably benign	Het
Ces1b	A	T	8: 93,071,948	D203E	probably benign	Het
Cnnm1	A	G	19: 43,484,926	N753S	probably benign	Het
Col19a1	C	T	1: 24,326,032	G501R	probably damaging	Het
Cym	A	G	3: 107,218,675	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,626,161	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,098,312		probably null	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dagla	G	A	19: 10,248,407	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,846,806	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,233,833	L28P	probably benign	Het
Ddr2	T	C	1: 170,001,983	D234G	possibly damaging	Het
Fam83a	T	A	15: 58,009,666	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,520,036	D426V	probably damaging	Het
Gm10093	A	G	17: 78,492,903	K441R	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm43302	T	C	5: 105,290,927	I32V	probably benign	Het
Gm9944	T	C	4: 144,453,031	Y96C	unknown	Het
Impdh2	C	T	9: 108,560,363		probably benign	Het
Iws1	G	A	18: 32,083,281	R358Q	probably damaging	Het
Kctd18	G	T	1: 57,963,130	D179E	probably damaging	Het
Krt78	A	T	15: 101,947,790	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,643,962	C25S	unknown	Het
Lama1	T	C	17: 67,818,668	I2940T		Het
Lmnb2	A	G	10: 80,905,079		probably null	Het
Lrrc27	A	T	7: 139,242,639	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,208,657	T67M	probably benign	Het
Malrd1	T	A	2: 15,696,942	C789*	probably null	Het
Mei1	T	G	15: 82,081,981	V268G		Het
Mical3	C	A	6: 120,973,553	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,479	P29L	probably benign	Het
Mroh2b	T	C	15: 4,905,640	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952	T1609S	unknown	Het
Myrfl	A	T	10: 116,798,640	C616*	probably null	Het
Ncor1	C	T	11: 62,330,859	A946T	probably benign	Het
Olfr122	C	A	17: 37,771,751	L33M	probably damaging	Het
Olfr330	T	C	11: 58,529,201	T262A	probably benign	Het
Pbp2	T	C	6: 135,310,106	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,069,088	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 12,897,278	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,617,804	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,586,873		probably null	Het
Rbm4b	G	A	19: 4,762,191	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,557	V238A	probably damaging	Het
Sesn1	G	T	10: 41,903,775	G402W	probably damaging	Het
Six4	A	G	12: 73,112,406	V260A	probably benign	Het
Srrm2	G	A	17: 23,819,857	R1825Q	unknown	Het
Stat1	G	A	1: 52,139,194	W262*	probably null	Het
Tcf20	A	T	15: 82,854,957	D764E	probably damaging	Het
Tgm2	T	C	2: 158,120,145	N585D	probably benign	Het
Tmf1	A	T	6: 97,156,860	L1039H	probably damaging	Het
Trak2	A	G	1: 58,935,775	V86A	probably benign	Het
Ttc39b	A	G	4: 83,253,010	I202T	probably damaging	Het
Uhrf1bp1l	A	T	10: 89,782,720	M274L	probably benign	Het
Vmn1r30	A	G	6: 58,435,475	F124S	probably benign	Het
Vwa7	T	A	17: 35,017,157	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,731,513	M281L	probably benign	Het
Zfand2a	C	T	5: 139,481,998	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,031,820	A935P	probably damaging	Het

Other mutations in Krt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Krt13	APN	11	100119713	missense	probably damaging	1.00
IGL02532:Krt13	APN	11	100119369	missense	probably damaging	1.00
IGL02934:Krt13	APN	11	100119084	missense	probably damaging	0.99
PIT4651001:Krt13	UTSW	11	100120036	missense	probably damaging	0.98
R0092:Krt13	UTSW	11	100121432	nonsense	probably null
R0722:Krt13	UTSW	11	100119153	missense	probably damaging	1.00
R1228:Krt13	UTSW	11	100121477	missense	probably benign	0.18
R1400:Krt13	UTSW	11	100121284	missense	probably damaging	1.00
R1751:Krt13	UTSW	11	100121100	missense	possibly damaging	0.84
R1767:Krt13	UTSW	11	100121100	missense	possibly damaging	0.84
R2420:Krt13	UTSW	11	100120051	missense	probably benign	0.43
R2421:Krt13	UTSW	11	100120051	missense	probably benign	0.43
R2869:Krt13	UTSW	11	100117649	missense	unknown
R2869:Krt13	UTSW	11	100117649	missense	unknown
R4421:Krt13	UTSW	11	100118935	missense	possibly damaging	0.94
R4451:Krt13	UTSW	11	100118001	missense	unknown
R4520:Krt13	UTSW	11	100119348	missense	probably damaging	0.99
R4632:Krt13	UTSW	11	100121224	missense	possibly damaging	0.96
R4656:Krt13	UTSW	11	100119363	missense	probably damaging	1.00
R4872:Krt13	UTSW	11	100121506	start gained	probably benign
R5709:Krt13	UTSW	11	100117643	missense	unknown
R6014:Krt13	UTSW	11	100117611	missense	unknown
R6323:Krt13	UTSW	11	100121150	missense	probably damaging	1.00
R6391:Krt13	UTSW	11	100119376	missense	probably damaging	0.96
R7535:Krt13	UTSW	11	100117998	missense	unknown
R7562:Krt13	UTSW	11	100119336	missense	probably damaging	1.00
R7867:Krt13	UTSW	11	100121182	missense	probably damaging	1.00
R7992:Krt13	UTSW	11	100117652	missense	unknown
R8379:Krt13	UTSW	11	100118880	missense	probably damaging	0.99
R8429:Krt13	UTSW	11	100121125	missense	probably damaging	1.00
R8560:Krt13	UTSW	11	100118850	missense	possibly damaging	0.85
R8879:Krt13	UTSW	11	100119385	missense	probably benign	0.00
R8973:Krt13	UTSW	11	100119438	missense	possibly damaging	0.83
R9610:Krt13	UTSW	11	100121492	missense	probably benign	0.18
R9611:Krt13	UTSW	11	100121492	missense	probably benign	0.18
R9746:Krt13	UTSW	11	100121161	missense	possibly damaging	0.90
X0013:Krt13	UTSW	11	100119348	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTCGTTGCCAGAGAGGAG -3'
(R):5'- TAACTGGGCTTGTGGGAAAG -3'

Sequencing Primer
(F):5'- CAGAGAGGAGGCCACCATC -3'
(R):5'- GGAGGAACAGCTGGCATC -3'

Posted On

2021-03-08