Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Krt77'

481031

Institutional Source

Beutler Lab

Gene Symbol

Krt77

Ensembl Gene

ENSMUSG00000067594

Gene Name

keratin 77

Synonyms

4732484G22Rik

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101858731-101869705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101862855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 338 (I338F)

Ref Sequence

ENSEMBL: ENSMUSP00000085311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087996]

AlphaFold

Q6IFZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000087996
AA Change: I338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594
AA Change: I338F

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	4	163	1.5e-46	PFAM
Filament	166	479	6.11e-149	SMART
low complexity region	485	497	N/A	INTRINSIC
low complexity region	500	543	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229995

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

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 and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Krt77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Krt77	APN	15	101860880	splice site	probably benign
IGL01912:Krt77	APN	15	101863851	splice site	probably benign
IGL02505:Krt77	APN	15	101860946	missense	probably damaging	1.00
IGL02875:Krt77	APN	15	101869149	missense	probably damaging	1.00
R0266:Krt77	UTSW	15	101869378	missense	possibly damaging	0.71
R0347:Krt77	UTSW	15	101859869	missense	unknown
R0762:Krt77	UTSW	15	101861126	splice site	probably null
R1528:Krt77	UTSW	15	101861088	missense	probably damaging	1.00
R1556:Krt77	UTSW	15	101861278	missense	probably damaging	0.96
R1973:Krt77	UTSW	15	101861244	missense	probably damaging	1.00
R4434:Krt77	UTSW	15	101865469	missense	probably damaging	1.00
R4436:Krt77	UTSW	15	101865469	missense	probably damaging	1.00
R4946:Krt77	UTSW	15	101869563	missense	unknown
R5405:Krt77	UTSW	15	101861088	missense	probably damaging	0.96
R5507:Krt77	UTSW	15	101861230	missense	probably benign	0.03
R5888:Krt77	UTSW	15	101865453	missense	probably benign	0.29
R5978:Krt77	UTSW	15	101862928	missense	probably benign	0.07
R6039:Krt77	UTSW	15	101860916	missense	possibly damaging	0.85
R6039:Krt77	UTSW	15	101860916	missense	possibly damaging	0.85
R6241:Krt77	UTSW	15	101865553	missense	probably damaging	1.00
R6260:Krt77	UTSW	15	101864372	nonsense	probably null
R6280:Krt77	UTSW	15	101865475	missense	probably damaging	1.00
R6500:Krt77	UTSW	15	101864337	missense	probably damaging	0.99
R6563:Krt77	UTSW	15	101862923	missense	probably damaging	1.00
R7153:Krt77	UTSW	15	101865496	missense	probably benign	0.18
R7156:Krt77	UTSW	15	101865496	missense	probably benign	0.18
R7205:Krt77	UTSW	15	101869371	missense	probably benign	0.00
R7379:Krt77	UTSW	15	101861274	missense	probably damaging	1.00
R7407:Krt77	UTSW	15	101860095	missense	unknown
R8297:Krt77	UTSW	15	101859972	small deletion	probably benign
R9221:Krt77	UTSW	15	101865629	missense	probably damaging	1.00
R9513:Krt77	UTSW	15	101861344	missense	probably damaging	1.00
R9516:Krt77	UTSW	15	101861344	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTATCATATTCAGTGTCAAGGAG -3'
(R):5'- GGAACACGAAGAGGCCTTTC -3'

Sequencing Primer
(F):5'- TCATATTCAGTGTCAAGGAGAGAAAG -3'
(R):5'- TGTTCTGTGTCTCACAGG -3'

Posted On

2017-06-26