Mutagenetix > Incidental Mutation

Incidental Mutation 'R1126:Krt87'

96219

Institutional Source

Beutler Lab

Gene Symbol

Krt87

Ensembl Gene

ENSMUSG00000047641

Gene Name

keratin 87

Synonyms

Krt2-25, Krt83

MMRRC Submission

039199-MU

Accession Numbers

Essential gene?

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

Stock #

R1126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101329371-101336685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101385363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 336 (N336K)

Ref Sequence

ENSEMBL: ENSMUSP00000023718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023718]

AlphaFold

Q6IMF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023718
AA Change: N336K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: N336K

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	2	100	5.9e-16	PFAM
Filament	103	414	7.02e-149	SMART
low complexity region	422	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230173

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,759,062 (GRCm39)	E1226G	probably damaging	Het
Arhgef40	G	T	14: 52,234,583 (GRCm39)	S962I	probably damaging	Het
Atp9b	A	T	18: 80,822,169 (GRCm39)	M477K	probably damaging	Het
Enpp2	C	T	15: 54,770,222 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,041,226 (GRCm39)	M727K	possibly damaging	Het
Exo5	A	T	4: 120,779,322 (GRCm39)	I181N	probably damaging	Het
Fbn1	T	C	2: 125,163,112 (GRCm39)		probably null	Het
Gas6	T	C	8: 13,533,700 (GRCm39)	N103S	probably benign	Het
Gm11596	A	T	11: 99,683,699 (GRCm39)	C140*	probably null	Het
Il6st	T	C	13: 112,640,266 (GRCm39)	Y681H	probably damaging	Het
Itih4	T	C	14: 30,611,918 (GRCm39)		probably null	Het
Kdm5b	C	T	1: 134,541,729 (GRCm39)	A768V	possibly damaging	Het
Mfsd6	A	G	1: 52,748,670 (GRCm39)	V65A	probably benign	Het
Nipsnap1	A	G	11: 4,834,081 (GRCm39)	N90S	probably benign	Het
Nlrp9a	C	A	7: 26,260,166 (GRCm39)	D640E	probably benign	Het
Or11h4b	C	T	14: 50,918,720 (GRCm39)	A124T	possibly damaging	Het
Or1l4	A	T	2: 37,092,113 (GRCm39)	M287L	probably benign	Het
Or2j3	A	G	17: 38,615,579 (GRCm39)	C258R	probably damaging	Het
Or5p53	A	C	7: 107,533,578 (GRCm39)	M284L	possibly damaging	Het
Parp9	G	A	16: 35,768,110 (GRCm39)	V97I	possibly damaging	Het
Pdzd2	T	C	15: 12,458,306 (GRCm39)	T12A	possibly damaging	Het
Penk	T	C	4: 4,138,119 (GRCm39)	T9A	probably benign	Het
Pilrb2	T	C	5: 137,869,222 (GRCm39)	D126G	probably damaging	Het
Pkdrej	A	T	15: 85,700,515 (GRCm39)	V1807E	probably damaging	Het
Ppp1r9a	A	G	6: 4,906,795 (GRCm39)	E450G	possibly damaging	Het
Rag1	T	C	2: 101,473,034 (GRCm39)	R703G	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rmdn3	T	C	2: 118,984,476 (GRCm39)	D92G	probably benign	Het
Rp1l1	G	A	14: 64,267,918 (GRCm39)	G1168D	probably damaging	Het
Saxo1	T	A	4: 86,397,224 (GRCm39)	T105S	probably benign	Het
Slc39a2	G	A	14: 52,131,602 (GRCm39)	G58R	probably damaging	Het
Tbx6	C	T	7: 126,383,891 (GRCm39)	T315I	probably damaging	Het
Tcf12	A	G	9: 71,907,715 (GRCm39)	M99T	probably benign	Het
Tdrd3	A	G	14: 87,718,210 (GRCm39)	D197G	probably damaging	Het
Tnc	T	C	4: 63,936,357 (GRCm39)	N193S	probably damaging	Het
Ttn	A	G	2: 76,680,347 (GRCm39)		probably benign	Het
Vmn1r225	A	G	17: 20,722,588 (GRCm39)	I10V	probably benign	Het
Zp3r	A	G	1: 130,546,079 (GRCm39)	L77P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CTAGAAGCAGCCTCTTGCCTTGTTC -3'
(R):5'- AGCCTGACCACTGTGCATCTTG -3'

Sequencing Primer
(F):5'- TTCACATGGGTCAGCCTGAG -3'
(R):5'- ACATCCATTGTGCTCACTGG -3'

Posted On

2014-01-05