Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Krt72'

644017

Institutional Source

Beutler Lab

Gene Symbol

Krt72

Ensembl Gene

ENSMUSG00000056605

Gene Name

keratin 72

Synonyms

Krt72-ps, K6irs2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101776172-101786460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101782145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 224 (Y224F)

Ref Sequence

ENSEMBL: ENSMUSP00000065922 (fasta)

Gene Model

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

AlphaFold

Q6IME9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071104
AA Change: Y224F

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

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: Y224F

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	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
R0669:Krt72	UTSW	15	101778305	missense	probably damaging	0.99
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
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'- GGTGGTTAGAAACACTCAAACCTTC -3'
(R):5'- TCACATCAGTGGAGTTGGGG -3'

Sequencing Primer
(F):5'- AAACCTTCCTCCTACCCTAACTG -3'
(R):5'- CCATGGTGATGTCTCAGGCAAATC -3'

Posted On

2020-09-02