Mutagenetix > Incidental Mutation

Incidental Mutation 'R7882:Krtap9-1'

608837

Institutional Source

Beutler Lab

Gene Symbol

Krtap9-1

Ensembl Gene

ENSMUSG00000070335

Gene Name

keratin associated protein 9-1

Synonyms

MMRRC Submission

045934-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7882 (G1)

Quality Score

137.008

Status

Not validated

Chromosome

Chromosomal Location

99764215-99764826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99764356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 31 (T31P)

Ref Sequence

ENSEMBL: ENSMUSP00000091468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093936]

AlphaFold

Q64526

Predicted Effect

unknown
Transcript: ENSMUST00000093936
AA Change: T31P

SMART Domains

Protein: ENSMUSP00000091468
Gene: ENSMUSG00000070335
AA Change: T31P

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	37	6.8e-6	PFAM
Pfam:Keratin_B2_2	86	135	3.6e-9	PFAM
Pfam:Keratin_B2_2	122	164	9.8e-11	PFAM
low complexity region	170	186	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,644,250 (GRCm39)	E110*	probably null	Het
Adad1	G	T	3: 37,133,951 (GRCm39)	V289F	probably damaging	Het
Adgra2	A	G	8: 27,607,440 (GRCm39)	D717G	probably benign	Het
Arid3b	T	C	9: 57,703,780 (GRCm39)	I389M	possibly damaging	Het
Axdnd1	A	G	1: 156,225,023 (GRCm39)	V47A		Het
Cachd1	T	A	4: 100,824,244 (GRCm39)	L562M	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccpg1	T	C	9: 72,922,787 (GRCm39)	F799S	probably damaging	Het
Ces1c	T	C	8: 93,833,231 (GRCm39)	I411M	probably benign	Het
Cgn	T	G	3: 94,669,941 (GRCm39)	K1066N	probably damaging	Het
Cntn4	A	G	6: 106,330,684 (GRCm39)	I101V	probably benign	Het
Cntrl	A	G	2: 35,060,592 (GRCm39)	E1928G	probably benign	Het
Cxcl12	A	G	6: 117,148,464 (GRCm39)	Y28C	probably damaging	Het
Cyp2r1	A	T	7: 114,153,824 (GRCm39)		probably null	Het
D430041D05Rik	C	T	2: 104,087,974 (GRCm39)	W334*	probably null	Het
Dsp	G	A	13: 38,367,994 (GRCm39)	R671Q	possibly damaging	Het
Fancm	A	G	12: 65,173,568 (GRCm39)	K1960R	probably benign	Het
Fgd5	T	A	6: 92,045,459 (GRCm39)	Y1331N	probably damaging	Het
Ina	G	A	19: 47,004,100 (GRCm39)	E303K		Het
Kctd3	C	A	1: 188,715,243 (GRCm39)	V369F	possibly damaging	Het
Kif14	T	C	1: 136,399,314 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,443,763 (GRCm39)	V1312A	probably benign	Het
Krt84	T	C	15: 101,436,826 (GRCm39)	I403V	probably benign	Het
Lyrm9	A	T	11: 78,728,967 (GRCm39)	I60F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mmp28	T	C	11: 83,334,752 (GRCm39)	D334G	probably damaging	Het
Nr1h5	T	C	3: 102,856,931 (GRCm39)	T194A	possibly damaging	Het
Nrf1	A	G	6: 30,090,299 (GRCm39)	I85M	probably benign	Het
Nrp2	C	T	1: 62,822,680 (GRCm39)	R758C	probably damaging	Het
Or5b116	A	T	19: 13,422,951 (GRCm39)	T192S	probably benign	Het
Pcdhga4	A	G	18: 37,819,681 (GRCm39)	D410G	probably damaging	Het
Pld1	T	C	3: 28,099,158 (GRCm39)	V275A	probably damaging	Het
Plxnc1	A	T	10: 94,679,698 (GRCm39)	F895I	probably benign	Het
Polr2a	A	G	11: 69,627,000 (GRCm39)	I1486T	possibly damaging	Het
Ptprz1	A	G	6: 23,002,256 (GRCm39)	M1449V	probably benign	Het
Rspo4	C	A	2: 151,711,746 (GRCm39)	T156N	probably damaging	Het
Sacs	A	G	14: 61,444,520 (GRCm39)	I2189V	probably benign	Het
Stat5b	A	C	11: 100,674,601 (GRCm39)	F711V	possibly damaging	Het
Stk11ip	C	A	1: 75,506,108 (GRCm39)	Q543K	probably benign	Het
Tarbp1	G	A	8: 127,183,232 (GRCm39)	T529M	probably damaging	Het
Thada	A	T	17: 84,736,624 (GRCm39)	C886S	possibly damaging	Het
Tmem19	A	G	10: 115,179,608 (GRCm39)	F296S	probably benign	Het
Tnfsf13b	A	G	8: 10,057,078 (GRCm39)	N79S	not run	Het
Vdac3	C	A	8: 23,069,073 (GRCm39)	G214C	probably damaging	Het
Vmn2r18	A	C	5: 151,485,329 (GRCm39)	F722V	probably damaging	Het
Vmn2r45	A	G	7: 8,486,409 (GRCm39)	L293S	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Xpot	A	G	10: 121,454,996 (GRCm39)		probably null	Het
Zfp526	G	A	7: 24,920,860 (GRCm39)		probably benign	Het
Zfp532	A	G	18: 65,756,561 (GRCm39)	T165A	probably benign	Het

Other mutations in Krtap9-1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00158:Krtap9-1	APN	11	99,764,680 (GRCm39)	missense	unknown
R4605:Krtap9-1	UTSW	11	99,764,579 (GRCm39)	missense	unknown
R8726:Krtap9-1	UTSW	11	99,764,577 (GRCm39)	nonsense	probably null
R9393:Krtap9-1	UTSW	11	99,764,664 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTATAAAAGCCCCAGGTCTGAAACAG -3'
(R):5'- TAGACTGACAGCAGCTAGGC -3'

Sequencing Primer
(F):5'- CCCAGGTCTGAAACAGTTGTCAG -3'
(R):5'- AGATACAGCACCTGGGCTG -3'

Posted On

2019-12-20