Mutagenetix > Incidental Mutation

Incidental Mutation 'R8756:Krt90'

664184

Institutional Source

Beutler Lab

Gene Symbol

Krt90

Ensembl Gene

ENSMUSG00000048699

Gene Name

keratin 90

Synonyms

4732456N10Rik

MMRRC Submission

068597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101460791-101471385 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 101470779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023714] [ENSMUST00000042957]

AlphaFold

E9Q1Z0

Predicted Effect

probably null
Transcript: ENSMUST00000023714

SMART Domains

Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	139	3.1e-24	PFAM
Filament	142	453	1.05e-179	SMART
low complexity region	465	522	N/A	INTRINSIC
low complexity region	527	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042957

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	146	1e-32	PFAM
Filament	149	462	1.68e-178	SMART
low complexity region	468	527	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	T	6: 87,165,235 (GRCm39)	S401T	probably damaging	Het
Armh1	T	A	4: 117,094,861 (GRCm39)	I60L	probably benign	Het
Atp8b5	T	C	4: 43,342,439 (GRCm39)	V370A	probably damaging	Het
Atraid	T	A	5: 31,211,385 (GRCm39)	Y184N	probably damaging	Het
Cp	G	C	3: 20,059,736 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,903,767 (GRCm39)	I1824T	probably benign	Het
Cyp2c65	A	T	19: 39,049,552 (GRCm39)	R27*	probably null	Het
Dtl	T	C	1: 191,271,371 (GRCm39)	H725R	probably benign	Het
Dync1h1	G	T	12: 110,583,261 (GRCm39)	A453S	probably benign	Het
Fat3	T	A	9: 16,287,885 (GRCm39)	D546V	probably damaging	Het
Flt1	T	C	5: 147,576,224 (GRCm39)	T595A	probably benign	Het
Gtf2ird2	C	T	5: 134,226,090 (GRCm39)	P179S	possibly damaging	Het
Hoga1	A	G	19: 42,048,716 (GRCm39)	I145V	probably benign	Het
Igfn1	G	T	1: 135,895,698 (GRCm39)	Q1623K	probably benign	Het
Jsrp1	T	A	10: 80,647,940 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,808,810 (GRCm39)	S514T	probably benign	Het
Mad2l1	T	C	6: 66,512,569 (GRCm39)	V20A	probably damaging	Het
Malrd1	T	C	2: 15,757,706 (GRCm39)		probably null	Het
Matn2	A	C	15: 34,423,876 (GRCm39)	E578A	possibly damaging	Het
Myof	A	T	19: 37,928,400 (GRCm39)	W1050R	probably benign	Het
Nemp1	T	A	10: 127,528,845 (GRCm39)	I183N	probably benign	Het
Nid1	A	G	13: 13,683,386 (GRCm39)	T1155A	probably benign	Het
Nsd1	T	C	13: 55,461,506 (GRCm39)	S2681P	probably benign	Het
Onecut3	C	A	10: 80,349,750 (GRCm39)	R415S	probably damaging	Het
Or2d2	T	C	7: 106,728,019 (GRCm39)	T194A	probably benign	Het
Or4s2	T	A	2: 88,473,183 (GRCm39)	V24E	possibly damaging	Het
Pclo	T	A	5: 14,764,398 (GRCm39)	S1005R		Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
R3hcc1l	G	A	19: 42,552,073 (GRCm39)	V357M	probably damaging	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Serpinh1	A	G	7: 98,996,359 (GRCm39)	Y242H	probably damaging	Het
Slit2	G	T	5: 48,459,829 (GRCm39)	E1370*	probably null	Het
Sos2	C	A	12: 69,695,310 (GRCm39)	L142F	probably damaging	Het
Spag4	T	C	2: 155,908,493 (GRCm39)	L141P	possibly damaging	Het
Sun1	T	C	5: 139,222,444 (GRCm39)	L570P	probably damaging	Het
Tars2	A	G	3: 95,648,672 (GRCm39)	V662A	probably benign	Het
Tmem245	C	A	4: 56,899,025 (GRCm39)		probably null	Het
Tpp2	T	A	1: 43,999,295 (GRCm39)	Y356*	probably null	Het
Trafd1	T	C	5: 121,513,878 (GRCm39)	E303G	probably damaging	Het
Trim71	T	C	9: 114,342,605 (GRCm39)	E559G	possibly damaging	Het
Ush2a	T	A	1: 188,644,141 (GRCm39)	V4501E	possibly damaging	Het
Vegfa	T	C	17: 46,342,465 (GRCm39)	T118A	probably damaging	Het
Vmn2r124	A	T	17: 18,294,094 (GRCm39)	H727L	probably benign	Het
Zdhhc2	T	A	8: 40,920,551 (GRCm39)	V270E	probably damaging	Het
Zfp112	T	C	7: 23,824,997 (GRCm39)	S326P	probably benign	Het
Zfp37	T	C	4: 62,110,371 (GRCm39)	D272G	possibly damaging	Het

Other mutations in Krt90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Krt90	APN	15	101,471,064 (GRCm39)	missense	probably benign	0.06
IGL01656:Krt90	APN	15	101,463,878 (GRCm39)	missense	probably damaging	1.00
IGL02064:Krt90	APN	15	101,471,088 (GRCm39)	missense	possibly damaging	0.54
R0243:Krt90	UTSW	15	101,471,110 (GRCm39)	missense	possibly damaging	0.78
R0732:Krt90	UTSW	15	101,468,860 (GRCm39)	missense	possibly damaging	0.60
R1036:Krt90	UTSW	15	101,471,151 (GRCm39)	missense	probably benign	0.05
R1616:Krt90	UTSW	15	101,469,026 (GRCm39)	missense	possibly damaging	0.46
R1750:Krt90	UTSW	15	101,461,800 (GRCm39)	unclassified	probably benign
R1919:Krt90	UTSW	15	101,465,665 (GRCm39)	missense	probably damaging	1.00
R2063:Krt90	UTSW	15	101,466,794 (GRCm39)	missense	probably benign	0.07
R2107:Krt90	UTSW	15	101,471,064 (GRCm39)	missense	probably benign	0.06
R2155:Krt90	UTSW	15	101,471,046 (GRCm39)	missense	probably benign	0.00
R2404:Krt90	UTSW	15	101,463,105 (GRCm39)	critical splice donor site	probably null
R3412:Krt90	UTSW	15	101,469,028 (GRCm39)	missense	probably damaging	1.00
R3910:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R3911:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R3913:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R4476:Krt90	UTSW	15	101,465,718 (GRCm39)	missense	probably damaging	1.00
R4748:Krt90	UTSW	15	101,463,768 (GRCm39)	missense	probably damaging	1.00
R4918:Krt90	UTSW	15	101,470,914 (GRCm39)	missense	possibly damaging	0.47
R5883:Krt90	UTSW	15	101,461,654 (GRCm39)	unclassified	probably benign
R6416:Krt90	UTSW	15	101,467,679 (GRCm39)	missense	probably benign	0.12
R6674:Krt90	UTSW	15	101,465,761 (GRCm39)	missense	probably damaging	0.99
R7025:Krt90	UTSW	15	101,465,610 (GRCm39)	missense	possibly damaging	0.81
R7514:Krt90	UTSW	15	101,461,605 (GRCm39)	missense	unknown
R7915:Krt90	UTSW	15	101,466,838 (GRCm39)	splice site	probably null
R8307:Krt90	UTSW	15	101,467,634 (GRCm39)	missense	probably damaging	1.00
R9011:Krt90	UTSW	15	101,471,235 (GRCm39)	missense	probably benign	0.17
R9355:Krt90	UTSW	15	101,461,714 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTGGGTCTAAGAACTCGGG -3'
(R):5'- GTGTCAGCGGCATAGGATAC -3'

Sequencing Primer
(F):5'- TCTAAGAACTCGGGATGGATGG -3'
(R):5'- TCAGCGGCATAGGATACAGAGTTG -3'

Posted On

2021-03-08