Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:Krt87'

52786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt87

Ensembl Gene

ENSMUSG00000047641

Gene Name

keratin 87

Synonyms

Krt2-25, Krt83

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

101329371-101336685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101329706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 486 (C486F)

Ref Sequence

ENSEMBL: ENSMUSP00000080613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000081945]

AlphaFold

Q6IMF0

Predicted Effect

probably benign
Transcript: ENSMUST00000068904

SMART Domains

Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC
Pfam:Keratin_2_head	43	81	3.2e-12	PFAM
Filament	84	396	1.95e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081945
AA Change: C486F

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641
AA Change: C486F

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	3	107	1e-12	PFAM
Filament	110	421	6.45e-148	SMART
low complexity region	425	440	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183401

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,139,770 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,082,476 (GRCm39)	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,910,622 (GRCm39)	K46N	probably damaging	Het
Ash1l	T	A	3: 88,971,209 (GRCm39)	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,002,060 (GRCm39)	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,201,056 (GRCm39)	D394G	probably damaging	Het
Btbd10	T	C	7: 112,915,763 (GRCm39)	D442G	probably damaging	Het
Cd44	A	T	2: 102,652,607 (GRCm39)	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chsy1	T	G	7: 65,821,874 (GRCm39)	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,621,311 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,248,487 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,485,978 (GRCm39)	T342A	probably benign	Het
Dgki	T	C	6: 36,989,846 (GRCm39)	D631G	probably damaging	Het
Eif3b	T	C	5: 140,426,862 (GRCm39)	I706T	probably damaging	Het
Fam120a	A	G	13: 49,055,549 (GRCm39)	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,836,049 (GRCm39)		probably null	Het
Jmjd8	A	C	17: 26,048,145 (GRCm39)		probably benign	Het
Kmt5a	T	C	5: 124,589,443 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,354,417 (GRCm39)	N470K	probably damaging	Het
Med1	C	A	11: 98,071,111 (GRCm39)	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,573,261 (GRCm39)	S189P	probably damaging	Het
Myo9a	T	A	9: 59,697,361 (GRCm39)	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,379,981 (GRCm39)	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858 (GRCm38)		noncoding transcript	Het
Nutm2	A	G	13: 50,623,665 (GRCm39)	T121A	probably damaging	Het
Opa1	C	T	16: 29,405,815 (GRCm39)	P127S	probably damaging	Het
Or2h1b	C	T	17: 37,462,332 (GRCm39)	C177Y	probably damaging	Het
Pcdh15	A	T	10: 74,178,464 (GRCm39)	I574F	possibly damaging	Het
Pcnx1	G	A	12: 82,042,113 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,138,328 (GRCm39)	T136A	probably benign	Het
Prph2	A	G	17: 47,222,085 (GRCm39)	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,012,539 (GRCm39)	K296E	possibly damaging	Het
Syne1	A	T	10: 5,375,708 (GRCm39)	I128N	probably damaging	Het
Tlk1	A	T	2: 70,582,660 (GRCm39)	N156K	possibly damaging	Het
Trem2	C	T	17: 48,658,956 (GRCm39)	T222I	probably damaging	Het
Trip12	A	T	1: 84,735,580 (GRCm39)	F872L	probably damaging	Het
Trrap	T	A	5: 144,783,349 (GRCm39)	S3393T	probably damaging	Het
Vwa8	T	A	14: 79,172,669 (GRCm39)	S304T	probably benign	Het
Zc3h7a	T	C	16: 10,971,046 (GRCm39)	T328A	probably benign	Het

Other mutations in Krt87

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Krt87	APN	15	101,386,092 (GRCm39)	missense	probably benign	0.17
IGL00987:Krt87	APN	15	101,336,327 (GRCm39)	missense	probably benign	0.00
IGL01019:Krt87	APN	15	101,336,312 (GRCm39)	missense	possibly damaging	0.84
IGL01066:Krt87	APN	15	101,336,266 (GRCm39)	critical splice donor site	probably null
IGL01315:Krt87	APN	15	101,384,848 (GRCm39)	splice site	probably benign
IGL01572:Krt87	APN	15	101,334,414 (GRCm39)	missense	probably benign	0.33
IGL01702:Krt87	APN	15	101,389,099 (GRCm39)	missense	probably benign	0.18
IGL02123:Krt87	APN	15	101,385,466 (GRCm39)	missense	possibly damaging	0.49
IGL02353:Krt87	APN	15	101,383,339 (GRCm39)	missense	probably benign
IGL02360:Krt87	APN	15	101,383,339 (GRCm39)	missense	probably benign
IGL02395:Krt87	APN	15	101,385,833 (GRCm39)	missense	probably benign	0.18
IGL02633:Krt87	APN	15	101,389,095 (GRCm39)	missense	probably damaging	1.00
IGL02716:Krt87	APN	15	101,332,485 (GRCm39)	missense	possibly damaging	0.52
IGL03287:Krt87	APN	15	101,330,218 (GRCm39)	splice site	probably benign
R0144:Krt87	UTSW	15	101,336,542 (GRCm39)	missense	probably benign	0.04
R0357:Krt87	UTSW	15	101,384,900 (GRCm39)	missense	probably benign	0.17
R0650:Krt87	UTSW	15	101,384,921 (GRCm39)	missense	probably damaging	0.99
R0928:Krt87	UTSW	15	101,389,161 (GRCm39)	missense	probably benign	0.00
R1126:Krt87	UTSW	15	101,385,363 (GRCm39)	missense	probably damaging	0.98
R1196:Krt87	UTSW	15	101,389,314 (GRCm39)	missense	probably benign	0.03
R1252:Krt87	UTSW	15	101,385,711 (GRCm39)	missense	probably damaging	1.00
R1513:Krt87	UTSW	15	101,387,538 (GRCm39)	missense	probably benign	0.30
R1612:Krt87	UTSW	15	101,386,092 (GRCm39)	missense	probably benign	0.17
R1870:Krt87	UTSW	15	101,385,071 (GRCm39)	missense	probably benign
R2173:Krt87	UTSW	15	101,385,818 (GRCm39)	missense	probably damaging	0.98
R2196:Krt87	UTSW	15	101,336,314 (GRCm39)	missense	probably damaging	0.99
R2209:Krt87	UTSW	15	101,330,989 (GRCm39)	missense	probably benign	0.42
R2432:Krt87	UTSW	15	101,386,037 (GRCm39)	nonsense	probably null
R2568:Krt87	UTSW	15	101,385,708 (GRCm39)	missense	possibly damaging	0.67
R2696:Krt87	UTSW	15	101,384,890 (GRCm39)	missense	probably benign	0.01
R3508:Krt87	UTSW	15	101,386,039 (GRCm39)	missense	probably benign	0.04
R4364:Krt87	UTSW	15	101,385,395 (GRCm39)	missense	probably benign
R4366:Krt87	UTSW	15	101,385,395 (GRCm39)	missense	probably benign
R4606:Krt87	UTSW	15	101,384,930 (GRCm39)	missense	probably benign	0.18
R4721:Krt87	UTSW	15	101,385,863 (GRCm39)	missense	probably damaging	1.00
R4784:Krt87	UTSW	15	101,385,837 (GRCm39)	missense	probably damaging	1.00
R4987:Krt87	UTSW	15	101,384,890 (GRCm39)	missense	probably benign
R5008:Krt87	UTSW	15	101,389,105 (GRCm39)	missense	probably damaging	1.00
R5101:Krt87	UTSW	15	101,385,391 (GRCm39)	missense	probably benign	0.14
R5367:Krt87	UTSW	15	101,384,875 (GRCm39)	missense	probably damaging	1.00
R5516:Krt87	UTSW	15	101,385,002 (GRCm39)	nonsense	probably null
R5651:Krt87	UTSW	15	101,331,910 (GRCm39)	missense	possibly damaging	0.94
R5949:Krt87	UTSW	15	101,385,476 (GRCm39)	missense	probably damaging	0.99
R5972:Krt87	UTSW	15	101,385,467 (GRCm39)	missense	probably benign
R6036:Krt87	UTSW	15	101,385,412 (GRCm39)	missense	possibly damaging	0.78
R6036:Krt87	UTSW	15	101,385,412 (GRCm39)	missense	possibly damaging	0.78
R6135:Krt87	UTSW	15	101,385,415 (GRCm39)	missense	probably damaging	1.00
R6437:Krt87	UTSW	15	101,336,273 (GRCm39)	missense	possibly damaging	0.95
R6615:Krt87	UTSW	15	101,334,443 (GRCm39)	missense	probably benign	0.02
R6680:Krt87	UTSW	15	101,331,859 (GRCm39)	missense	probably damaging	1.00
R7151:Krt87	UTSW	15	101,387,529 (GRCm39)	missense	probably damaging	1.00
R7186:Krt87	UTSW	15	101,385,083 (GRCm39)	splice site	probably null
R7297:Krt87	UTSW	15	101,387,528 (GRCm39)	missense	probably benign	0.42
R7541:Krt87	UTSW	15	101,336,515 (GRCm39)	missense	probably damaging	1.00
R7617:Krt87	UTSW	15	101,336,426 (GRCm39)	missense	probably benign	0.38
R7708:Krt87	UTSW	15	101,385,813 (GRCm39)	missense	probably benign	0.00
R7796:Krt87	UTSW	15	101,383,865 (GRCm39)	missense	possibly damaging	0.95
R8172:Krt87	UTSW	15	101,383,284 (GRCm39)	missense	probably benign	0.25
R8463:Krt87	UTSW	15	101,332,506 (GRCm39)	missense	probably benign	0.05
R8669:Krt87	UTSW	15	101,385,777 (GRCm39)	missense	probably benign	0.00
R8695:Krt87	UTSW	15	101,331,901 (GRCm39)	missense	probably benign	0.00
R8771:Krt87	UTSW	15	101,385,779 (GRCm39)	missense	probably benign	0.00
R9478:Krt87	UTSW	15	101,385,449 (GRCm39)	missense	probably benign	0.06
R9489:Krt87	UTSW	15	101,336,484 (GRCm39)	nonsense	probably null
R9592:Krt87	UTSW	15	101,386,060 (GRCm39)	missense	probably benign
R9605:Krt87	UTSW	15	101,336,484 (GRCm39)	nonsense	probably null
R9629:Krt87	UTSW	15	101,389,048 (GRCm39)	missense	probably benign	0.01
R9642:Krt87	UTSW	15	101,385,074 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21