Mutagenetix > Incidental Mutation

Incidental Mutation 'R8294:Krt72'

638867

Institutional Source

Beutler Lab

Gene Symbol

Krt72

Ensembl Gene

ENSMUSG00000056605

Gene Name

keratin 72

Synonyms

Krt72-ps, K6irs2

MMRRC Submission

067784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101684607-101694895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101694472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 141 (L141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000065922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071104]

AlphaFold

Q6IME9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071104
AA Change: L141Q

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

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: L141Q

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	59	130	3.1e-17	PFAM
Filament	133	446	6.9e-157	SMART
low complexity region	454	462	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC
low complexity region	507	519	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (42/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,897,217 (GRCm39)	V632A	possibly damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Acat2	T	C	17: 13,175,243 (GRCm39)	I79V	probably benign	Het
Arid3a	A	T	10: 79,786,535 (GRCm39)		silent	Het
Cecr2	C	T	6: 120,710,747 (GRCm39)	A154V	probably damaging	Het
Cog3	A	C	14: 75,954,619 (GRCm39)	L650R	probably damaging	Het
Col12a1	A	T	9: 79,606,594 (GRCm39)	F610I	possibly damaging	Het
Col24a1	A	G	3: 145,186,844 (GRCm39)	D1215G	probably null	Het
Ctsh	C	G	9: 89,950,489 (GRCm39)	A219G	possibly damaging	Het
Dnah10	C	T	5: 124,859,410 (GRCm39)	L2126F	probably damaging	Het
Dock10	A	G	1: 80,488,079 (GRCm39)	V2028A	possibly damaging	Het
Ece1	T	C	4: 137,675,931 (GRCm39)	V435A	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
H4c1	A	G	13: 23,944,957 (GRCm39)	F62L	probably damaging	Het
Hk1	T	G	10: 62,131,624 (GRCm39)	I245L	probably benign	Het
Hyal6	A	C	6: 24,734,378 (GRCm39)	K104Q	possibly damaging	Het
Kalrn	T	C	16: 33,853,954 (GRCm39)	I2017V	probably benign	Het
Khdc4	C	T	3: 88,603,915 (GRCm39)	A244V	probably damaging	Het
Map3k4	C	A	17: 12,537,500 (GRCm39)	A6S	unknown	Het
Muc6	T	C	7: 141,217,263 (GRCm39)	Y2470C	possibly damaging	Het
Nrip1	A	G	16: 76,089,418 (GRCm39)	V713A	probably damaging	Het
Or10q1b	A	G	19: 13,683,010 (GRCm39)	D273G	probably benign	Het
Or11g26	A	G	14: 50,753,083 (GRCm39)	T141A	possibly damaging	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or6aa1	T	C	7: 86,044,487 (GRCm39)	Y73C	probably damaging	Het
Paip1	C	T	13: 119,587,300 (GRCm39)	T304I	possibly damaging	Het
Pde4dip	A	G	3: 97,674,694 (GRCm39)	L74P	probably damaging	Het
Prkch	T	A	12: 73,806,484 (GRCm39)	L577H	probably damaging	Het
Rp1	A	G	1: 4,416,220 (GRCm39)	S1631P	probably benign	Het
Rph3a	A	G	5: 121,099,429 (GRCm39)	F154S	probably damaging	Het
S1pr5	A	G	9: 21,156,300 (GRCm39)	V42A	possibly damaging	Het
Scaper	G	A	9: 55,517,280 (GRCm39)	L1052F	possibly damaging	Het
Slc44a2	G	T	9: 21,259,643 (GRCm39)	V597F	probably damaging	Het
Srsf1	T	A	11: 87,939,467 (GRCm39)	S116T	probably benign	Het
Ssh2	A	G	11: 77,345,027 (GRCm39)	D1004G	probably benign	Het
St3gal5	T	A	6: 72,074,816 (GRCm39)	D25E		Het
Syt17	A	T	7: 118,009,228 (GRCm39)	Y327N	probably damaging	Het
T	T	A	17: 8,653,364 (GRCm39)	M1K	probably null	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tmprss15	A	T	16: 78,868,176 (GRCm39)	C211S	probably benign	Het
Trim36	T	C	18: 46,331,588 (GRCm39)	D7G	probably benign	Het
Trip11	T	A	12: 101,811,160 (GRCm39)	K1863N	possibly damaging	Het
Vmn2r13	A	T	5: 109,322,978 (GRCm39)	S104T	probably benign	Het
Zfp977	T	C	7: 42,229,689 (GRCm39)	T279A	probably benign	Het

Other mutations in Krt72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Krt72	APN	15	101,693,434 (GRCm39)	missense	probably damaging	0.99
IGL00568:Krt72	APN	15	101,689,450 (GRCm39)	missense	probably damaging	1.00
IGL00966:Krt72	APN	15	101,689,396 (GRCm39)	missense	probably damaging	1.00
IGL01997:Krt72	APN	15	101,693,315 (GRCm39)	missense	probably damaging	0.99
IGL02858:Krt72	APN	15	101,690,556 (GRCm39)	missense	probably damaging	1.00
IGL03260:Krt72	APN	15	101,686,708 (GRCm39)	missense	probably damaging	1.00
R0062:Krt72	UTSW	15	101,694,443 (GRCm39)	missense	probably damaging	0.98
R0062:Krt72	UTSW	15	101,694,443 (GRCm39)	missense	probably damaging	0.98
R0601:Krt72	UTSW	15	101,694,491 (GRCm39)	missense	probably damaging	1.00
R0669:Krt72	UTSW	15	101,686,740 (GRCm39)	missense	probably damaging	0.99
R1396:Krt72	UTSW	15	101,694,440 (GRCm39)	critical splice donor site	probably null
R1501:Krt72	UTSW	15	101,686,769 (GRCm39)	missense	probably damaging	1.00
R1598:Krt72	UTSW	15	101,688,688 (GRCm39)	missense	probably benign	0.00
R1779:Krt72	UTSW	15	101,689,364 (GRCm39)	missense	probably benign
R1796:Krt72	UTSW	15	101,689,987 (GRCm39)	splice site	probably null
R4259:Krt72	UTSW	15	101,686,692 (GRCm39)	missense	probably damaging	0.99
R4835:Krt72	UTSW	15	101,689,508 (GRCm39)	splice site	probably null
R4871:Krt72	UTSW	15	101,694,469 (GRCm39)	missense	probably damaging	1.00
R6246:Krt72	UTSW	15	101,689,372 (GRCm39)	missense	probably damaging	1.00
R6513:Krt72	UTSW	15	101,685,187 (GRCm39)	critical splice acceptor site	probably null
R6520:Krt72	UTSW	15	101,689,481 (GRCm39)	missense	probably benign	0.01
R8324:Krt72	UTSW	15	101,690,580 (GRCm39)	missense	probably damaging	1.00
R8476:Krt72	UTSW	15	101,686,701 (GRCm39)	missense	probably damaging	0.97
R8982:Krt72	UTSW	15	101,690,059 (GRCm39)	missense	possibly damaging	0.81
R9054:Krt72	UTSW	15	101,694,836 (GRCm39)	missense	probably damaging	0.99
R9679:Krt72	UTSW	15	101,685,152 (GRCm39)	missense	probably damaging	1.00
Z1177:Krt72	UTSW	15	101,686,743 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACTCATGCTACATGCCTC -3'
(R):5'- TTTGGGAGCAGAAGCCTGTTC -3'

Sequencing Primer
(F):5'- ACATGCCTCCCATTCTTTCCAAAG -3'
(R):5'- AAGTGGTGGCTTCACGC -3'

Posted On

2020-07-28