Mutagenetix > Incidental Mutation

Incidental Mutation 'R9592:Krt87'

723063

Institutional Source

Beutler Lab

Gene Symbol

Krt87

Ensembl Gene

ENSMUSG00000047641

Gene Name

keratin 87

Synonyms

Krt2-25, Krt83

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9592 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101329371-101336685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101386060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 234 (T234A)

Ref Sequence

ENSEMBL: ENSMUSP00000023718 (fasta)

Gene Model

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

AlphaFold

Q6IMF0

Predicted Effect

probably benign
Transcript: ENSMUST00000023718
AA Change: T234A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: T234A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	T	9: 4,309,312 (GRCm39)	P42Q	probably benign	Het
Adat1	G	T	8: 112,709,314 (GRCm39)	P170T	probably benign	Het
Ap4e1	A	G	2: 126,903,588 (GRCm39)	D830G	probably benign	Het
Apc	T	A	18: 34,443,823 (GRCm39)	C605*	probably null	Het
Atp2b4	A	G	1: 133,659,568 (GRCm39)	S465P	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cdhr3	A	G	12: 33,136,007 (GRCm39)	S78P	possibly damaging	Het
Ckap4	G	A	10: 84,364,175 (GRCm39)	T296M	probably damaging	Het
Cyp11a1	G	A	9: 57,925,605 (GRCm39)	R182H	possibly damaging	Het
Fem1b	A	T	9: 62,704,959 (GRCm39)	H100Q	probably damaging	Het
Gm5464	T	A	14: 67,106,366 (GRCm39)	M1K	probably null	Het
Igkv12-41	G	A	6: 69,835,579 (GRCm39)	Q58*	probably null	Het
Kcnq2	T	C	2: 180,728,813 (GRCm39)	Y572C	probably damaging	Het
Ksr2	G	A	5: 117,894,344 (GRCm39)	G828S	probably damaging	Het
Megf8	C	T	7: 25,028,228 (GRCm39)	T264M	probably benign	Het
Myof	A	T	19: 38,031,737 (GRCm39)	I12N	probably damaging	Het
Nsd1	T	G	13: 55,424,355 (GRCm39)	D1467E	probably damaging	Het
Nsrp1	A	T	11: 76,940,104 (GRCm39)	L167Q	probably damaging	Het
Nsun4	A	T	4: 115,908,852 (GRCm39)	H569Q	possibly damaging	Het
Or51q1	T	C	7: 103,629,179 (GRCm39)	V260A	possibly damaging	Het
Or5b105	A	G	19: 13,079,906 (GRCm39)	I254T	probably benign	Het
Pcdha7	A	T	18: 37,109,045 (GRCm39)	D690V	probably benign	Het
Pcdhb2	G	A	18: 37,429,266 (GRCm39)	R56Q	probably damaging	Het
Pcsk5	G	T	19: 17,652,899 (GRCm39)	Y262*	probably null	Het
Pdzd2	G	C	15: 12,458,106 (GRCm39)	N78K	probably damaging	Het
Pglyrp3	T	C	3: 91,938,859 (GRCm39)	F345L	probably benign	Het
Pnp2	T	A	14: 51,196,979 (GRCm39)	Y22N	probably damaging	Het
Pnp2	C	A	14: 51,196,981 (GRCm39)	Y22*	probably null	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rmdn1	T	C	4: 19,599,660 (GRCm39)	M206T	possibly damaging	Het
Rnf166	A	T	8: 123,197,048 (GRCm39)	L68Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Scin	C	T	12: 40,131,746 (GRCm39)	V263I	probably benign	Het
Secisbp2l	C	A	2: 125,582,561 (GRCm39)	R965L	probably damaging	Het
Senp2	G	A	16: 21,845,435 (GRCm39)	R223Q	possibly damaging	Het
Siglecf	C	A	7: 43,001,696 (GRCm39)	P169T	probably damaging	Het
Smpdl3b	G	A	4: 132,484,438 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,671,773 (GRCm39)	V184I	possibly damaging	Het
Tecta	G	T	9: 42,250,238 (GRCm39)	N1851K	probably damaging	Het
Thbs2	A	T	17: 14,899,083 (GRCm39)	S672R	probably damaging	Het
Tmtc4	T	C	14: 123,170,815 (GRCm39)	H485R	probably damaging	Het
Tns1	A	T	1: 74,029,553 (GRCm39)	S307R	probably damaging	Het
Usp15	C	A	10: 122,999,522 (GRCm39)	W220L	probably damaging	Het
Zfp64	A	T	2: 168,768,118 (GRCm39)	V498E	probably damaging	Het
Zfp820	G	T	17: 22,038,577 (GRCm39)	S250R	probably benign	Het
Zfr2	A	T	10: 81,069,580 (GRCm39)	N2I	unknown	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
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
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'- GGCTGTTGTCCATCTTGACG -3'
(R):5'- TTAAAGCTAGTCCCTGCCCAG -3'

Sequencing Primer
(F):5'- AATGGAGGATGCGGGTCTCC -3'
(R):5'- AGTCCCTGCCCAGTTCCAC -3'

Posted On

2022-08-09