Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Krt72'

520028

Institutional Source

Beutler Lab

Gene Symbol

Krt72

Ensembl Gene

ENSMUSG00000056605

Gene Name

keratin 72

Synonyms

Krt72-ps, K6irs2

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101684607-101694895 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 101685187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065922 (fasta)

Gene Model

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

AlphaFold

Q6IME9

Predicted Effect

probably null
Transcript: ENSMUST00000071104

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605

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

probably null
Transcript: ENSMUST00000071104

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,654 (GRCm39)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 123,616,919 (GRCm39)	V2290A	probably benign	Het
Aox4	A	G	1: 58,252,212 (GRCm39)	N29S	probably benign	Het
Arhgap17	T	C	7: 122,891,379 (GRCm39)	R592G	possibly damaging	Het
Caap1	A	T	4: 94,389,640 (GRCm39)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,307,193 (GRCm39)	M165L	possibly damaging	Het
Calhm4	T	A	10: 33,917,630 (GRCm39)	R274*	probably null	Het
Cep72	A	T	13: 74,206,582 (GRCm39)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,525,743 (GRCm39)	S731G	probably null	Het
Dsc2	T	C	18: 20,179,295 (GRCm39)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,407,687 (GRCm39)	N344K	probably benign	Het
Enah	A	G	1: 181,841,920 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,225,591 (GRCm39)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,545,037 (GRCm39)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,270,986 (GRCm39)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,783,284 (GRCm39)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,378,573 (GRCm39)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,494,259 (GRCm39)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm39)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 123,018,302 (GRCm39)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,088,434 (GRCm39)	V1059D	possibly damaging	Het
Kif26a	T	A	12: 112,141,926 (GRCm39)	S727T	probably damaging	Het
Kifbp	T	C	10: 62,410,813 (GRCm39)		probably null	Het
Klk1b27	A	G	7: 43,705,169 (GRCm39)	H112R	probably benign	Het
Lactb	C	T	9: 66,878,172 (GRCm39)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,373,045 (GRCm39)	I612N	probably damaging	Het
Meaf6	A	C	4: 124,983,697 (GRCm39)	N51T	probably damaging	Het
Mtap	A	G	4: 89,066,498 (GRCm39)	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,412,143 (GRCm39)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm39)	T596I	probably damaging	Het
Or10ak14	A	T	4: 118,611,224 (GRCm39)	C172*	probably null	Het
Or4f14	C	G	2: 111,743,228 (GRCm39)	G16R	possibly damaging	Het
Pam	A	G	1: 97,765,752 (GRCm39)	V759A	possibly damaging	Het
Pcare	T	A	17: 72,051,701 (GRCm39)	E1217V	probably damaging	Het
Pds5a	T	A	5: 65,772,944 (GRCm39)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,568,240 (GRCm39)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,721,513 (GRCm39)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 24,906,550 (GRCm39)	V638I	possibly damaging	Het
Pramel34	C	A	5: 93,785,391 (GRCm39)		probably null	Het
Ptf1a	T	A	2: 19,451,848 (GRCm39)	D282E	probably damaging	Het
Ptgs2	A	T	1: 149,975,879 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,522,156 (GRCm39)	R471G	probably damaging	Het
Rptn	T	C	3: 93,303,419 (GRCm39)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,794,507 (GRCm39)	M429V	probably benign	Het
Shprh	T	C	10: 11,062,637 (GRCm39)	L1248P	probably damaging	Het
Son	T	C	16: 91,456,835 (GRCm39)		probably benign	Het
Sppl3	T	C	5: 115,233,995 (GRCm39)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,818,778 (GRCm39)	R794W	probably damaging	Het
Telo2	T	C	17: 25,320,386 (GRCm39)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,572,793 (GRCm39)		probably null	Het
Tle4	T	C	19: 14,429,056 (GRCm39)	D722G	probably damaging	Het
Tprg1l	A	G	4: 154,243,862 (GRCm39)	V98A	probably benign	Het
Trak1	C	T	9: 121,272,822 (GRCm39)	R237C	probably benign	Het
Vmn2r113	T	C	17: 23,177,715 (GRCm39)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,915,093 (GRCm39)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,710,524 (GRCm39)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,889,970 (GRCm39)		probably null	Het
Wee2	A	G	6: 40,429,553 (GRCm39)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,432,604 (GRCm39)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 10,976,629 (GRCm39)		probably null	Het
Zfp516	T	A	18: 82,973,835 (GRCm39)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,819,317 (GRCm39)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,725,170 (GRCm39)	R713Q	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
R6520:Krt72	UTSW	15	101,689,481 (GRCm39)	missense	probably benign	0.01
R8294:Krt72	UTSW	15	101,694,472 (GRCm39)	missense	probably damaging	1.00
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'- CTGTCTGTCATCTGGAGGTC -3'
(R):5'- CAGCCATGGTTATGAATGGTGTC -3'

Sequencing Primer
(F):5'- CATCTGGAGGTCTTTTTGGTTGTACC -3'
(R):5'- TGGTGTCCACAAAGATATCTCAG -3'

Posted On

2018-06-06