Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Krtap29-1'

183253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap29-1

Ensembl Gene

ENSMUSG00000078254

Gene Name

keratin associated protein 29-1

Synonyms

Gm14195

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

99978025-99979053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99978279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 259 (I259F)

Ref Sequence

ENSEMBL: ENSMUSP00000100672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105051]

AlphaFold

A2A5X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105051
AA Change: I259F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100672
Gene: ENSMUSG00000078254
AA Change: I259F

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
Pfam:Keratin_B2_2	105	149	2.9e-5	PFAM
Pfam:Keratin_B2_2	150	209	7.3e-6	PFAM
low complexity region	312	330	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101 (GRCm38)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750 (GRCm38)		probably benign	Het
Abcf1	T	C	17: 35,962,062 (GRCm38)	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153 (GRCm38)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695 (GRCm38)		probably benign	Het
Atr	T	A	9: 95,881,420 (GRCm38)		probably benign	Het
Bdp1	A	G	13: 100,023,827 (GRCm38)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966 (GRCm38)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924 (GRCm38)	S218G	probably null	Het
Cand2	T	C	6: 115,803,638 (GRCm38)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960 (GRCm38)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091 (GRCm38)	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547 (GRCm38)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923 (GRCm38)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924 (GRCm38)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099 (GRCm38)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552 (GRCm38)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920 (GRCm38)	M794T	probably damaging	Het
F11	G	T	8: 45,250,095 (GRCm38)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823 (GRCm38)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423 (GRCm38)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450 (GRCm38)	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230 (GRCm38)	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896 (GRCm38)		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685 (GRCm38)	P535L	probably benign	Het
Hspa9	G	A	18: 34,947,975 (GRCm38)	R218*	probably null	Het
Ikbip	G	A	10: 91,093,257 (GRCm38)		probably null	Het
Kcnb2	C	T	1: 15,710,809 (GRCm38)	T635M	probably benign	Het
Lnpep	T	C	17: 17,570,957 (GRCm38)	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735 (GRCm38)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151 (GRCm38)	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296 (GRCm38)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263 (GRCm38)	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177 (GRCm38)	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578 (GRCm38)	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077 (GRCm38)	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253 (GRCm38)	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018 (GRCm38)	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485 (GRCm38)	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992 (GRCm38)	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898 (GRCm38)	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278 (GRCm38)		probably null	Het
Pcyox1	A	G	6: 86,392,268 (GRCm38)	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286 (GRCm38)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391 (GRCm38)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679 (GRCm38)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673 (GRCm38)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766 (GRCm38)	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309 (GRCm38)		probably benign	Het
Rom1	T	A	19: 8,928,004 (GRCm38)	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793 (GRCm38)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129 (GRCm38)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140 (GRCm38)	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463 (GRCm38)	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775 (GRCm38)	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758 (GRCm38)	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240 (GRCm38)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461 (GRCm38)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611 (GRCm38)	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316 (GRCm38)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776 (GRCm38)	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982 (GRCm38)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791 (GRCm38)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232 (GRCm38)		probably benign	Het
Zmiz1	A	G	14: 25,656,879 (GRCm38)	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369 (GRCm38)	E358G	probably benign	Het

Other mutations in Krtap29-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02218:Krtap29-1	APN	11	99,979,058 (GRCm38)	splice site	probably null
IGL02306:Krtap29-1	APN	11	99,978,266 (GRCm38)	missense	probably damaging	0.98
IGL02325:Krtap29-1	APN	11	99,978,333 (GRCm38)	missense	probably damaging	1.00
IGL02750:Krtap29-1	APN	11	99,978,684 (GRCm38)	missense	probably benign	0.00
IGL03061:Krtap29-1	APN	11	99,978,629 (GRCm38)	missense	possibly damaging	0.77
IGL03303:Krtap29-1	APN	11	99,978,843 (GRCm38)	missense	probably benign	0.03
R2069:Krtap29-1	UTSW	11	99,978,612 (GRCm38)	missense	probably damaging	0.99
R6274:Krtap29-1	UTSW	11	99,978,983 (GRCm38)	missense	probably null	0.00
R7643:Krtap29-1	UTSW	11	99,978,198 (GRCm38)	missense	probably damaging	1.00
R8786:Krtap29-1	UTSW	11	99,978,639 (GRCm38)	missense	probably damaging	0.99

Posted On

2014-05-07