Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Krt72'

62160

Institutional Source

Beutler Lab

Gene Symbol

Krt72

Ensembl Gene

ENSMUSG00000056605

Gene Name

keratin 72

Synonyms

Krt72-ps, K6irs2

MMRRC Submission

038854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0669 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

101776172-101786460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101778305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 402 (E402G)

Ref Sequence

ENSEMBL: ENSMUSP00000065922 (fasta)

Gene Model

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

AlphaFold

Q6IME9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071104
AA Change: E402G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: E402G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127671

Meta Mutation Damage Score

0.5807

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,198,845	H71L	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcb11	C	A	2: 69,329,318	V10L	probably benign	Het
Abcb9	T	C	5: 124,062,887	T689A	probably damaging	Het
Adam22	A	G	5: 8,143,036		probably benign	Het
Adamts5	A	G	16: 85,899,726	I181T	probably benign	Het
Adamts9	A	T	6: 92,880,957	V231D	probably damaging	Het
Angptl6	C	T	9: 20,876,527	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,528	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,467,949	V110A	probably benign	Het
Ccdc32	A	G	2: 119,019,167		probably benign	Het
Cela3b	T	C	4: 137,428,530	H22R	probably benign	Het
Cep44	T	C	8: 56,540,973	T190A	possibly damaging	Het
Chsy1	T	C	7: 66,171,687	C557R	probably damaging	Het
Cntd1	A	G	11: 101,287,498	T308A	probably damaging	Het
Cutal	T	C	2: 34,885,866		probably benign	Het
Dgcr14	T	C	16: 17,907,555	Y221C	probably damaging	Het
Dna2	A	G	10: 62,956,989	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,693,704	S1418R	probably benign	Het
Dnpep	A	G	1: 75,311,778		probably benign	Het
Dock7	A	T	4: 98,987,479	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,881,238		probably benign	Het
Fam69b	A	G	2: 26,634,866	T93A	probably benign	Het
Fer1l6	T	C	15: 58,553,724		probably null	Het
Gm5592	T	C	7: 41,155,830		probably benign	Het
Ipp	A	G	4: 116,537,876	Y536C	probably damaging	Het
Lamb3	T	C	1: 193,332,330	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120	T287S	probably benign	Het
Lipo3	T	A	19: 33,559,625	T232S	probably benign	Het
Lrrc63	G	A	14: 75,126,110	H194Y	probably benign	Het
Map3k13	A	G	16: 21,906,524	T416A	probably benign	Het
Mcm3	A	T	1: 20,804,929		probably null	Het
Mms22l	T	C	4: 24,517,223	V258A	probably benign	Het
Mrpl46	A	T	7: 78,782,883	L49*	probably null	Het
Mrs2	T	C	13: 24,993,759	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,419,268	Y403*	probably null	Het
Muc20	G	A	16: 32,794,480	P176S	unknown	Het
Mup21	C	T	4: 62,150,727	C9Y	unknown	Het
Mup-ps21	A	T	4: 62,030,770		noncoding transcript	Het
Mybph	T	G	1: 134,197,343		probably null	Het
Mypn	A	G	10: 63,134,923		probably benign	Het
Nav2	T	C	7: 49,408,683	S124P	probably damaging	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Numa1	A	C	7: 101,999,677	I872L	probably benign	Het
Olfr1206	A	T	2: 88,864,928	M108L	probably benign	Het
Olfr13	C	T	6: 43,174,004	T6I	probably benign	Het
Olfr293	A	G	7: 86,664,336	I225V	possibly damaging	Het
Olfr472	T	A	7: 107,903,239	I174K	probably damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pcdhb9	A	T	18: 37,402,255	N434I	probably damaging	Het
Pigq	A	T	17: 25,936,762		probably null	Het
Plxna2	T	G	1: 194,788,837	V972G	probably damaging	Het
Psma3	G	A	12: 70,988,495		probably benign	Het
Ptpn13	A	G	5: 103,556,109	T1336A	probably benign	Het
Rdh7	T	C	10: 127,884,729	D258G	probably benign	Het
Serpinb6c	A	G	13: 33,899,269	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,541,349	Y218F	probably benign	Het
Slc12a8	A	T	16: 33,550,904	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,706,200	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,289,164	I334L	probably benign	Het
Sorcs1	A	G	19: 50,241,942		probably benign	Het
Taar8c	A	G	10: 24,101,503	L137P	probably damaging	Het
Tcam1	A	T	11: 106,285,426	D326V	possibly damaging	Het
Telo2	A	T	17: 25,105,823	V461D	probably benign	Het
Tmprss7	A	T	16: 45,677,962	C351*	probably null	Het
Trim66	T	A	7: 109,454,992		probably benign	Het
Ube2d1	G	T	10: 71,262,110	H32N	probably benign	Het
Ubp1	T	C	9: 113,964,668		probably benign	Het
Vma21	C	T	X: 71,820,157	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,787,420	S46P	probably benign	Het
Wars	T	C	12: 108,866,018	S374G	probably benign	Het
Wbp1	T	C	6: 83,119,345	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,473,785		noncoding transcript	Het

Other mutations in Krt72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Krt72	APN	15	101784999	missense	probably damaging	0.99
IGL00568:Krt72	APN	15	101781015	missense	probably damaging	1.00
IGL00966:Krt72	APN	15	101780961	missense	probably damaging	1.00
IGL01997:Krt72	APN	15	101784880	missense	probably damaging	0.99
IGL02858:Krt72	APN	15	101782121	missense	probably damaging	1.00
IGL03260:Krt72	APN	15	101778273	missense	probably damaging	1.00
R0062:Krt72	UTSW	15	101786008	missense	probably damaging	0.98
R0062:Krt72	UTSW	15	101786008	missense	probably damaging	0.98
R0601:Krt72	UTSW	15	101786056	missense	probably damaging	1.00
R1396:Krt72	UTSW	15	101786005	critical splice donor site	probably null
R1501:Krt72	UTSW	15	101778334	missense	probably damaging	1.00
R1598:Krt72	UTSW	15	101780253	missense	probably benign	0.00
R1779:Krt72	UTSW	15	101780929	missense	probably benign
R1796:Krt72	UTSW	15	101781552	splice site	probably null
R4259:Krt72	UTSW	15	101778257	missense	probably damaging	0.99
R4835:Krt72	UTSW	15	101781073	splice site	probably null
R4871:Krt72	UTSW	15	101786034	missense	probably damaging	1.00
R6246:Krt72	UTSW	15	101780937	missense	probably damaging	1.00
R6513:Krt72	UTSW	15	101776752	critical splice acceptor site	probably null
R6520:Krt72	UTSW	15	101781046	missense	probably benign	0.01
R8294:Krt72	UTSW	15	101786037	missense	probably damaging	1.00
R8324:Krt72	UTSW	15	101782145	missense	probably damaging	1.00
R8476:Krt72	UTSW	15	101778266	missense	probably damaging	0.97
R8982:Krt72	UTSW	15	101781624	missense	possibly damaging	0.81
R9054:Krt72	UTSW	15	101786401	missense	probably damaging	0.99
R9679:Krt72	UTSW	15	101776717	missense	probably damaging	1.00
Z1177:Krt72	UTSW	15	101778308	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCAAACTGTCTTCCACCTTCC -3'
(R):5'- CAGTTCTGTCCAACCTGGACCATC -3'

Sequencing Primer
(F):5'- TTCCTGTTAAAGCAAACACCG -3'
(R):5'- TGGACCATCCAGTAGATCCTG -3'

Posted On

2013-07-30