Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Krt13'

646879

Institutional Source

Beutler Lab

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

Krt1-13, K13, Krt-1.13

MMRRC Submission

067810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100008153-100012392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100009706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 358 (L358P)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

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

AlphaFold

P08730

Predicted Effect

probably damaging
Transcript: ENSMUST00000007275
AA Change: L358P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: L358P

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,920,126 (GRCm39)	D314G	probably benign	Het
Ankrd12	T	G	17: 66,290,939 (GRCm39)	E1498A	probably benign	Het
Appl1	A	T	14: 26,647,372 (GRCm39)		probably null	Het
Auh	A	G	13: 53,063,349 (GRCm39)	*116R	probably null	Het
Ccdc7a	T	A	8: 129,691,417 (GRCm39)	H402L	probably benign	Het
Ccr4	T	C	9: 114,321,235 (GRCm39)	T277A	probably benign	Het
Col18a1	C	T	10: 76,889,072 (GRCm39)	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,688,925 (GRCm39)	I35T	probably benign	Het
Csnk1e	T	C	15: 79,304,882 (GRCm39)	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,437,020 (GRCm39)	R105G	probably benign	Het
Denr	C	A	5: 124,065,124 (GRCm39)	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,359,571 (GRCm39)	Y82*	probably null	Het
Dok3	A	G	13: 55,671,833 (GRCm39)	V246A	probably benign	Het
Endov	A	C	11: 119,382,723 (GRCm39)	K57Q	possibly damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbln1	G	A	15: 85,116,773 (GRCm39)	C275Y	probably damaging	Het
Fhip1b	T	C	7: 105,034,342 (GRCm39)	N430D	possibly damaging	Het
Foxi1	A	G	11: 34,157,530 (GRCm39)	I165T	possibly damaging	Het
Gm14496	A	T	2: 181,642,275 (GRCm39)	I649F	probably damaging	Het
Grin2b	A	G	6: 135,899,967 (GRCm39)	S305P	probably damaging	Het
Grm1	G	A	10: 10,564,879 (GRCm39)	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,802,298 (GRCm39)		probably null	Het
Klhl32	A	T	4: 24,629,194 (GRCm39)	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Limk2	G	A	11: 3,321,162 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,756,453 (GRCm39)	D4720G	probably null	Het
Mkln1	T	A	6: 31,435,900 (GRCm39)	Y286*	probably null	Het
Muc6	C	A	7: 141,230,579 (GRCm39)	E1143*	probably null	Het
Myh15	A	G	16: 48,901,551 (GRCm39)	I242M	probably benign	Het
Noc4l	T	G	5: 110,798,828 (GRCm39)	K241Q	probably damaging	Het
Nup88	C	A	11: 70,860,607 (GRCm39)	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or51aa2	A	G	7: 103,188,183 (GRCm39)	I86T	possibly damaging	Het
Orm1	A	T	4: 63,264,355 (GRCm39)	D137V	probably damaging	Het
Osbpl2	T	A	2: 179,778,895 (GRCm39)	D9E	probably damaging	Het
P4ha3	G	T	7: 99,942,986 (GRCm39)	D124Y	probably damaging	Het
Poteg	T	C	8: 27,943,354 (GRCm39)	V208A	probably benign	Het
Ppfibp1	A	G	6: 146,931,843 (GRCm39)	D963G	probably damaging	Het
Prdx6	G	T	1: 161,078,660 (GRCm39)	D9E	probably benign	Het
Prrc2b	C	A	2: 32,104,666 (GRCm39)	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,565,598 (GRCm39)	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rexo5	A	T	7: 119,433,508 (GRCm39)	M422L	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo2	A	T	16: 73,730,588 (GRCm39)	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,106,755 (GRCm39)	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,225,048 (GRCm39)	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,850,668 (GRCm39)	M487L	probably benign	Het
St6galnac1	C	A	11: 116,666,325 (GRCm39)		probably benign	Het
Tcp11l2	A	G	10: 84,449,469 (GRCm39)	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,223,482 (GRCm39)	C67*	probably null	Het
Tead2	G	A	7: 44,867,505 (GRCm39)	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849 (GRCm39)	N194K	probably damaging	Het
Timd2	A	G	11: 46,568,027 (GRCm39)		probably null	Het
Tmem270	T	C	5: 134,930,557 (GRCm39)	T235A	probably benign	Het
Tnrc18	T	C	5: 142,774,157 (GRCm39)	D224G		Het
Tsga10	G	T	1: 37,840,959 (GRCm39)	Q416K	probably benign	Het
Ulk1	C	A	5: 110,935,531 (GRCm39)	L911F	probably damaging	Het
Usp8	T	C	2: 126,584,491 (GRCm39)	S567P	probably benign	Het
Vmn2r-ps158	C	T	7: 42,697,270 (GRCm39)	P776S	probably damaging	Het
Zdhhc3	A	C	9: 122,918,143 (GRCm39)	C129G	probably 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
R6014:Krt13	UTSW	11	100,008,437 (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
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'- CTAACAAGATCCTGCCTGCTC -3'
(R):5'- CAGCTGAGCATGGTACCATC -3'

Sequencing Primer
(F):5'- TGCCAGACACTGTTCCAGTAG -3'
(R):5'- AGCATGGTACCATCTGCTG -3'

Posted On

2020-09-02