Mutagenetix > Incidental Mutation

Incidental Mutation 'R6680:Krt87'

527467

Institutional Source

Beutler Lab

Gene Symbol

Krt87

Ensembl Gene

ENSMUSG00000047641

Gene Name

keratin 87

Synonyms

Krt2-25, Krt83

MMRRC Submission

044799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101329371-101336685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101331859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 293 (R293H)

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 damaging
Transcript: ENSMUST00000081945
AA Change: R293H

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

SMART Domains

Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641
AA Change: R293H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,098,959 (GRCm39)	K155R	probably benign	Het
Ankrd31	T	A	13: 96,967,117 (GRCm39)		probably null	Het
AW011738	A	G	4: 156,288,182 (GRCm39)		probably benign	Het
Btnl12	T	C	16: 37,676,536 (GRCm39)	D77G	probably benign	Het
Ccl3	A	G	11: 83,539,132 (GRCm39)	S76P	probably benign	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dnaaf10	T	C	11: 17,179,857 (GRCm39)	L286P	probably damaging	Het
Fat2	G	T	11: 55,201,684 (GRCm39)	Y463*	probably null	Het
Frem3	A	G	8: 81,395,949 (GRCm39)	T1915A	probably damaging	Het
Hspg2	A	G	4: 137,293,048 (GRCm39)	Q4162R	probably benign	Het
Mipep	A	G	14: 61,025,672 (GRCm39)	I143V	possibly damaging	Het
Mrc2	C	T	11: 105,216,579 (GRCm39)	R123C	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Ndc80	T	C	17: 71,824,540 (GRCm39)	K223R	probably null	Het
Nudt16l2	A	G	9: 105,020,773 (GRCm39)	S163P	probably damaging	Het
Nuf2	A	C	1: 169,342,578 (GRCm39)		probably null	Het
Omd	T	C	13: 49,743,004 (GRCm39)	V18A	possibly damaging	Het
Or51a39	T	A	7: 102,363,522 (GRCm39)	I33F	possibly damaging	Het
Or8g21	T	C	9: 38,905,954 (GRCm39)	Y259C	probably damaging	Het
Or8k53	T	A	2: 86,177,589 (GRCm39)	I174F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Shank2	A	G	7: 143,974,603 (GRCm39)	S1384G	probably damaging	Het
Slc22a28	A	G	19: 8,078,757 (GRCm39)	S311P	probably benign	Het
Sox6	C	T	7: 115,076,218 (GRCm39)	E765K	possibly damaging	Het
Tas2r106	A	T	6: 131,655,437 (GRCm39)	I138K	probably damaging	Het
Tbx15	T	A	3: 99,220,389 (GRCm39)	Y54*	probably null	Het
Tulp4	T	G	17: 6,189,312 (GRCm39)	W45G	probably damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Usp13	T	C	3: 32,935,618 (GRCm39)	V348A	probably damaging	Het
Vezf1	T	C	11: 87,972,410 (GRCm39)	I439T	probably benign	Het
Vmn2r93	C	A	17: 18,536,920 (GRCm39)	Y534*	probably null	Het
Zfp579	A	G	7: 4,996,501 (GRCm39)	L470P	probably damaging	Het
Zfp598	A	G	17: 24,897,660 (GRCm39)	N327S	probably benign	Het
Zscan4d	A	T	7: 10,896,366 (GRCm39)	S335T	possibly damaging	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
IGL01087:Krt87	APN	15	101,329,706 (GRCm39)	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGACATCGACCCAGTGAG -3'
(R):5'- CACCAGACTGAGAACACTGG -3'

Sequencing Primer
(F):5'- TCGACCCAGTGAGCACAATG -3'
(R):5'- GGCAGAAGGTAGGCTTCC -3'

Posted On

2018-07-23