Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Krt13'

349299

Institutional Source

Beutler Lab

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

K13, Krt-1.13, Krt1-13

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100117327-100121566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100121224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 91 (L91P)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

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

AlphaFold

P08730

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007275
AA Change: L91P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: L91P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,473 (GRCm38)	V44A	probably benign	Het
Abr	C	T	11: 76,509,019 (GRCm38)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382 (GRCm38)		probably null	Het
Agbl1	A	G	7: 76,413,685 (GRCm38)	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553 (GRCm38)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184 (GRCm38)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302 (GRCm38)	H166R	probably damaging	Het
Aopep	T	C	13: 63,068,092 (GRCm38)	S393P	probably benign	Het
Arl16	A	G	11: 120,465,784 (GRCm38)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438 (GRCm38)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719 (GRCm38)	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275 (GRCm38)	T309M	probably damaging	Het
C6	A	T	15: 4,759,868 (GRCm38)	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855 (GRCm38)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,417,908 (GRCm38)	H181P	probably benign	Het
Chpf2	A	G	5: 24,591,831 (GRCm38)	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880 (GRCm38)	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411 (GRCm38)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209 (GRCm38)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355 (GRCm38)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951 (GRCm38)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406 (GRCm38)	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766 (GRCm38)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574 (GRCm38)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865 (GRCm38)	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823 (GRCm38)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,015,366 (GRCm38)		probably null	Het
Hykk	T	C	9: 54,946,516 (GRCm38)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148 (GRCm38)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187 (GRCm38)	G543S	unknown	Het
Krtap4-13	A	C	11: 99,809,528 (GRCm38)	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129 (GRCm38)		probably null	Het
Lrriq1	C	T	10: 103,221,427 (GRCm38)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504 (GRCm38)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376 (GRCm38)	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386 (GRCm38)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664 (GRCm38)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602 (GRCm38)	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591 (GRCm38)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481 (GRCm38)	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893 (GRCm38)	D87G	probably benign	Het
Oog3	A	G	4: 144,158,128 (GRCm38)	F413L	probably benign	Het
Or2c1	C	T	16: 3,839,087 (GRCm38)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,654,899 (GRCm38)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400 (GRCm38)	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413 (GRCm38)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044 (GRCm38)		probably null	Het
Ppm1e	G	A	11: 87,231,530 (GRCm38)	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231 (GRCm38)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860 (GRCm38)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Samd12	T	A	15: 53,719,671 (GRCm38)	H89L	possibly damaging	Het
Semg1	G	T	2: 164,237,747 (GRCm38)	T80N	probably benign	Het
Sephs1	T	A	2: 4,896,760 (GRCm38)	V211E	probably benign	Het
Setx	C	T	2: 29,148,615 (GRCm38)	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369 (GRCm38)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678 (GRCm38)	Q553H	probably damaging	Het
Tanc1	C	A	2: 59,795,835 (GRCm38)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498 (GRCm38)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712 (GRCm38)	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368 (GRCm38)	C186*	probably null	Het
Timp2	C	T	11: 118,303,772 (GRCm38)	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249 (GRCm38)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038 (GRCm38)	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425 (GRCm38)	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258 (GRCm38)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874 (GRCm38)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261 (GRCm38)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954 (GRCm38)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696 (GRCm38)	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458 (GRCm38)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309 (GRCm38)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736 (GRCm38)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm38)	F501S	probably damaging	Het

Other mutations in Krt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Krt13	APN	11	100,119,713 (GRCm38)	missense	probably damaging	1.00
IGL02532:Krt13	APN	11	100,119,369 (GRCm38)	missense	probably damaging	1.00
IGL02934:Krt13	APN	11	100,119,084 (GRCm38)	missense	probably damaging	0.99
PIT4651001:Krt13	UTSW	11	100,120,036 (GRCm38)	missense	probably damaging	0.98
R0092:Krt13	UTSW	11	100,121,432 (GRCm38)	nonsense	probably null
R0722:Krt13	UTSW	11	100,119,153 (GRCm38)	missense	probably damaging	1.00
R1228:Krt13	UTSW	11	100,121,477 (GRCm38)	missense	probably benign	0.18
R1400:Krt13	UTSW	11	100,121,284 (GRCm38)	missense	probably damaging	1.00
R1751:Krt13	UTSW	11	100,121,100 (GRCm38)	missense	possibly damaging	0.84
R1767:Krt13	UTSW	11	100,121,100 (GRCm38)	missense	possibly damaging	0.84
R2420:Krt13	UTSW	11	100,120,051 (GRCm38)	missense	probably benign	0.43
R2421:Krt13	UTSW	11	100,120,051 (GRCm38)	missense	probably benign	0.43
R2869:Krt13	UTSW	11	100,117,649 (GRCm38)	missense	unknown
R2869:Krt13	UTSW	11	100,117,649 (GRCm38)	missense	unknown
R4421:Krt13	UTSW	11	100,118,935 (GRCm38)	missense	possibly damaging	0.94
R4451:Krt13	UTSW	11	100,118,001 (GRCm38)	missense	unknown
R4520:Krt13	UTSW	11	100,119,348 (GRCm38)	missense	probably damaging	0.99
R4656:Krt13	UTSW	11	100,119,363 (GRCm38)	missense	probably damaging	1.00
R4872:Krt13	UTSW	11	100,121,506 (GRCm38)	start gained	probably benign
R5709:Krt13	UTSW	11	100,117,643 (GRCm38)	missense	unknown
R6014:Krt13	UTSW	11	100,117,611 (GRCm38)	missense	unknown
R6323:Krt13	UTSW	11	100,121,150 (GRCm38)	missense	probably damaging	1.00
R6391:Krt13	UTSW	11	100,119,376 (GRCm38)	missense	probably damaging	0.96
R7535:Krt13	UTSW	11	100,117,998 (GRCm38)	missense	unknown
R7562:Krt13	UTSW	11	100,119,336 (GRCm38)	missense	probably damaging	1.00
R7867:Krt13	UTSW	11	100,121,182 (GRCm38)	missense	probably damaging	1.00
R7992:Krt13	UTSW	11	100,117,652 (GRCm38)	missense	unknown
R8379:Krt13	UTSW	11	100,118,880 (GRCm38)	missense	probably damaging	0.99
R8429:Krt13	UTSW	11	100,121,125 (GRCm38)	missense	probably damaging	1.00
R8560:Krt13	UTSW	11	100,118,850 (GRCm38)	missense	possibly damaging	0.85
R8728:Krt13	UTSW	11	100,121,492 (GRCm38)	missense	probably null	0.73
R8879:Krt13	UTSW	11	100,119,385 (GRCm38)	missense	probably benign	0.00
R8973:Krt13	UTSW	11	100,119,438 (GRCm38)	missense	possibly damaging	0.83
R9610:Krt13	UTSW	11	100,121,492 (GRCm38)	missense	probably benign	0.18
R9611:Krt13	UTSW	11	100,121,492 (GRCm38)	missense	probably benign	0.18
R9746:Krt13	UTSW	11	100,121,161 (GRCm38)	missense	possibly damaging	0.90
X0013:Krt13	UTSW	11	100,119,348 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGAGGAAAACTTCTTAGCATCAG -3'
(R):5'- TTTGTCACTGGAGGGTCAGC -3'

Sequencing Primer
(F):5'- ACTTCTTAGCATCAGAGGCC -3'
(R):5'- CACTGGAGGGTCAGCTGGAG -3'

Posted On

2015-10-08