Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03236:Krtap4-16'

414051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap4-16

Ensembl Gene

ENSMUSG00000046474

Gene Name

keratin associated protein 4-16

Synonyms

OTTMUSG00000002196

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03236

Quality Score

Status

Chromosome

Chromosomal Location

99741481-99742431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99741962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 146 (R146L)

Ref Sequence

ENSEMBL: ENSMUSP00000103060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107437]

AlphaFold

Q91W93

Predicted Effect

unknown
Transcript: ENSMUST00000107437
AA Change: R146L

SMART Domains

Protein: ENSMUSP00000103060
Gene: ENSMUSG00000046474
AA Change: R146L

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	41	8e-7	PFAM
Pfam:Keratin_B2_2	19	63	6.6e-13	PFAM
Pfam:Keratin_B2_2	29	78	3e-8	PFAM
Pfam:Keratin_B2_2	62	98	4.1e-9	PFAM
Pfam:Keratin_B2_2	78	118	6.5e-10	PFAM
Pfam:Keratin_B2_2	96	136	2.4e-10	PFAM
Pfam:Keratin_B2_2	115	157	1.5e-9	PFAM
Pfam:Keratin_B2_2	134	174	7.3e-10	PFAM
Pfam:Keratin_B2_2	168	202	1.6e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	G	4: 144,246,486 (GRCm39)	T11A	probably benign	Het
Abca17	A	G	17: 24,545,450 (GRCm39)		probably benign	Het
Aox1	G	T	1: 58,349,156 (GRCm39)	E641*	probably null	Het
Arhgef10l	G	T	4: 140,338,671 (GRCm39)	D30E	probably damaging	Het
Arhgef37	A	T	18: 61,656,897 (GRCm39)	I56N	probably damaging	Het
Cwf19l1	T	C	19: 44,115,887 (GRCm39)	I181V	probably benign	Het
Dnai2	A	G	11: 114,648,075 (GRCm39)		probably benign	Het
Elp2	A	G	18: 24,755,300 (GRCm39)		probably benign	Het
Epb41l4a	G	A	18: 33,943,272 (GRCm39)	S541L	probably damaging	Het
Ibsp	A	C	5: 104,453,871 (GRCm39)	N70H	probably benign	Het
Ikzf1	A	G	11: 11,657,848 (GRCm39)	E35G	probably damaging	Het
Kdm5a	T	C	6: 120,415,949 (GRCm39)	V1623A	probably damaging	Het
Kpna7	A	T	5: 144,922,504 (GRCm39)	V499E	unknown	Het
Map2k5	T	A	9: 63,193,674 (GRCm39)		probably benign	Het
Mfn2	A	G	4: 147,966,562 (GRCm39)	F543S	probably damaging	Het
Mical3	A	G	6: 120,946,345 (GRCm39)	L1052P	probably benign	Het
Mycbp2	T	C	14: 103,536,134 (GRCm39)	N272S	probably damaging	Het
Ndel1	A	G	11: 68,732,976 (GRCm39)	Y87H	probably benign	Het
Ndnf	G	A	6: 65,673,156 (GRCm39)	V45M	possibly damaging	Het
Nr3c1	A	G	18: 39,619,444 (GRCm39)	I281T	probably benign	Het
Ntm	A	G	9: 29,020,802 (GRCm39)	V139A	probably benign	Het
Or5ac23	A	C	16: 59,149,200 (GRCm39)	V224G	probably damaging	Het
Pkhd1l1	T	G	15: 44,445,222 (GRCm39)	V3698G	probably damaging	Het
Plcb1	A	G	2: 135,188,226 (GRCm39)	Y773C	probably damaging	Het
Prkaca	T	A	8: 84,717,074 (GRCm39)	F138Y	probably damaging	Het
Qser1	T	C	2: 104,616,877 (GRCm39)	T1312A	probably benign	Het
Slc47a2	T	C	11: 61,204,505 (GRCm39)	E282G	probably damaging	Het
Smchd1	G	A	17: 71,698,425 (GRCm39)	T1117I	possibly damaging	Het
Utp6	A	G	11: 79,851,567 (GRCm39)		probably benign	Het
Vmn1r66	T	A	7: 10,008,990 (GRCm39)	K14N	probably damaging	Het
Vmn1r71	A	T	7: 10,482,211 (GRCm39)	V93E	probably benign	Het
Zfp768	G	A	7: 126,943,142 (GRCm39)	L329F	possibly damaging	Het

Other mutations in Krtap4-16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Krtap4-16	APN	11	99,742,032 (GRCm39)	missense	possibly damaging	0.86
IGL02750:Krtap4-16	APN	11	99,742,106 (GRCm39)	missense	possibly damaging	0.71
IGL02973:Krtap4-16	APN	11	99,742,167 (GRCm39)	missense	possibly damaging	0.71
IGL02837:Krtap4-16	UTSW	11	99,741,863 (GRCm39)	missense	unknown
R1803:Krtap4-16	UTSW	11	99,741,998 (GRCm39)	missense	possibly damaging	0.93
R1959:Krtap4-16	UTSW	11	99,742,373 (GRCm39)	missense	unknown
R1986:Krtap4-16	UTSW	11	99,742,322 (GRCm39)	missense	unknown
R5818:Krtap4-16	UTSW	11	99,742,349 (GRCm39)	missense	unknown
R6283:Krtap4-16	UTSW	11	99,741,861 (GRCm39)	missense	unknown
R9643:Krtap4-16	UTSW	11	99,742,271 (GRCm39)	missense	unknown

Posted On

2016-08-02