Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02858:Krt72'

362025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt72

Ensembl Gene

ENSMUSG00000056605

Gene Name

keratin 72

Synonyms

Krt72-ps, K6irs2

Accession Numbers

Essential gene?

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

Stock #

IGL02858

Quality Score

Status

Chromosome

Chromosomal Location

101684607-101694895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101690556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 232 (T232M)

Ref Sequence

ENSEMBL: ENSMUSP00000065922 (fasta)

Gene Model

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

AlphaFold

Q6IME9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071104
AA Change: T232M

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

SMART Domains

Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: T232M

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,596,599 (GRCm39)	V126A	probably damaging	Het
Akap9	T	C	5: 4,119,130 (GRCm39)	Y3546H	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgap45	C	A	10: 79,853,768 (GRCm39)	T94N	probably benign	Het
Arid1b	T	C	17: 5,392,166 (GRCm39)	S1899P	possibly damaging	Het
Atad5	T	A	11: 79,980,601 (GRCm39)	V2E	probably damaging	Het
Calr	A	T	8: 85,571,528 (GRCm39)	V155E	probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,619,422 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,618,949 (GRCm39)	L6F	probably damaging	Het
Chrnb1	C	T	11: 69,675,935 (GRCm39)	V436I	possibly damaging	Het
Col4a4	T	C	1: 82,506,204 (GRCm39)	E292G	unknown	Het
Ddx56	A	G	11: 6,217,667 (GRCm39)	L18P	probably damaging	Het
Dhx36	A	C	3: 62,384,797 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,453,358 (GRCm39)	R4376S	possibly damaging	Het
Dnah6	T	A	6: 73,185,582 (GRCm39)	D113V	probably benign	Het
Dnah7a	A	G	1: 53,512,118 (GRCm39)		probably benign	Het
Dock7	T	A	4: 98,833,442 (GRCm39)	K1920*	probably null	Het
Dysf	A	G	6: 84,076,471 (GRCm39)	D628G	probably benign	Het
Exoc3l2	A	G	7: 19,229,109 (GRCm39)	I176V	probably benign	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Fzd4	C	T	7: 89,057,162 (GRCm39)	T403M	probably damaging	Het
Gpr171	A	T	3: 59,005,288 (GRCm39)	N162K	probably benign	Het
Impdh1	T	A	6: 29,206,924 (GRCm39)	K132*	probably null	Het
Itgb2l	A	T	16: 96,223,850 (GRCm39)	W730R	possibly damaging	Het
Jmjd8	T	C	17: 26,049,134 (GRCm39)	F230S	probably damaging	Het
Lpin3	T	C	2: 160,740,540 (GRCm39)		probably benign	Het
Nup214	A	C	2: 31,900,384 (GRCm39)		probably benign	Het
Or11g7	A	T	14: 50,690,507 (GRCm39)		probably benign	Het
Or7d10	A	G	9: 19,831,747 (GRCm39)	M81V	probably damaging	Het
Or8c20	A	G	9: 38,260,469 (GRCm39)	Q24R	probably benign	Het
Or8g26	A	G	9: 39,095,822 (GRCm39)	Y113C	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Sall3	G	T	18: 81,012,728 (GRCm39)	A1236E	probably damaging	Het
Sipa1	T	C	19: 5,705,736 (GRCm39)	T411A	probably damaging	Het
Thsd7a	T	G	6: 12,500,994 (GRCm39)	D471A	probably benign	Het
Tm2d1	T	A	4: 98,263,192 (GRCm39)	E100D	probably damaging	Het
Tmcc1	A	G	6: 116,110,849 (GRCm39)	V148A	probably damaging	Het
Tubgcp6	A	T	15: 88,986,518 (GRCm39)	Y19*	probably null	Het
Ubr3	A	G	2: 69,783,203 (GRCm39)	Y713C	probably damaging	Het
Uevld	A	G	7: 46,605,377 (GRCm39)	V39A	probably benign	Het
Vmn2r28	A	T	7: 5,484,003 (GRCm39)	H732Q	probably damaging	Het
Zfp629	A	T	7: 127,209,484 (GRCm39)	F775Y	probably damaging	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
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
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

Posted On

2015-12-18