Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02248:Ajap1'

286268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ajap1

Ensembl Gene

ENSMUSG00000039546

Gene Name

adherens junction associated protein 1

Synonyms

LOC230959

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02248

Quality Score

Status

Chromosome

Chromosomal Location

153457678-153567268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153516568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 258 (S258T)

Ref Sequence

ENSEMBL: ENSMUSP00000101271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105646] [ENSMUST00000149177]

AlphaFold

A2ALI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105646
AA Change: S258T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: S258T

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
low complexity region	51	62	N/A	INTRINSIC
low complexity region	121	146	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	181	389	1.6e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149177

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1g1	A	G	8: 110,590,065 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,647,721 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,023,439 (GRCm39)		probably null	Het
Btnl9	T	C	11: 49,071,625 (GRCm39)	D66G	probably benign	Het
Casp1	T	A	9: 5,299,452 (GRCm39)	H60Q	probably benign	Het
Clec4n	T	G	6: 123,207,527 (GRCm39)	S30R	probably damaging	Het
Col22a1	A	G	15: 71,671,297 (GRCm39)	L1021P	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fbxw7	A	G	3: 84,810,940 (GRCm39)	N22D	possibly damaging	Het
Frrs1l	T	A	4: 56,968,272 (GRCm39)	N167Y	probably damaging	Het
Fsip2	T	A	2: 82,813,116 (GRCm39)	I3145K	possibly damaging	Het
Gcc1	G	T	6: 28,418,513 (GRCm39)	R607S	probably damaging	Het
Gm14443	A	T	2: 175,012,107 (GRCm39)	I113K	probably benign	Het
Ica1	T	C	6: 8,758,387 (GRCm39)		probably benign	Het
Igkv4-69	T	A	6: 69,261,305 (GRCm39)		probably benign	Het
Igkv9-120	G	T	6: 68,027,221 (GRCm39)	C45F	probably damaging	Het
Lrp2	T	C	2: 69,313,152 (GRCm39)	Y2483C	probably damaging	Het
Lrpprc	A	G	17: 85,078,895 (GRCm39)	L273S	probably damaging	Het
Myh9	A	T	15: 77,670,814 (GRCm39)	L476Q	probably damaging	Het
Nab2	T	C	10: 127,499,109 (GRCm39)	I390V	probably benign	Het
Notch4	A	T	17: 34,806,172 (GRCm39)	D1756V	probably damaging	Het
Nup54	T	C	5: 92,576,188 (GRCm39)		probably null	Het
Or14c41	T	A	7: 86,235,312 (GRCm39)	Y276*	probably null	Het
Or8k38	A	T	2: 86,488,061 (GRCm39)	V247E	probably damaging	Het
Reln	T	C	5: 22,115,990 (GRCm39)	Y3006C	probably damaging	Het
Rpe65	T	A	3: 159,330,342 (GRCm39)	L503Q	probably damaging	Het
Serinc5	A	G	13: 92,842,648 (GRCm39)	D366G	probably damaging	Het
Slain1	A	G	14: 103,923,213 (GRCm39)	D102G	probably damaging	Het
Smo	A	T	6: 29,757,291 (GRCm39)	I469F	possibly damaging	Het
Tomm70a	T	A	16: 56,958,465 (GRCm39)	S273T	probably benign	Het
Trak1	G	T	9: 121,275,860 (GRCm39)	V281L	probably damaging	Het
Trib2	T	C	12: 15,843,967 (GRCm39)	N225S	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,703 (GRCm39)	K685N	probably damaging	Het
Zcchc4	T	A	5: 52,953,418 (GRCm39)	H142Q	probably damaging	Het
Zfp521	T	C	18: 13,977,303 (GRCm39)	I1037V	possibly damaging	Het

Other mutations in Ajap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Ajap1	APN	4	153,470,938 (GRCm39)	missense	probably damaging	0.99
IGL01607:Ajap1	APN	4	153,516,736 (GRCm39)	missense	probably damaging	0.99
IGL01638:Ajap1	APN	4	153,516,693 (GRCm39)	missense	possibly damaging	0.93
IGL02888:Ajap1	APN	4	153,516,718 (GRCm39)	missense	probably benign	0.32
R0924:Ajap1	UTSW	4	153,470,929 (GRCm39)	missense	probably damaging	1.00
R2905:Ajap1	UTSW	4	153,517,284 (GRCm39)	missense	probably benign	0.11
R5607:Ajap1	UTSW	4	153,516,661 (GRCm39)	missense	possibly damaging	0.65
R5875:Ajap1	UTSW	4	153,516,798 (GRCm39)	missense	probably damaging	1.00
R6060:Ajap1	UTSW	4	153,516,699 (GRCm39)	missense	probably damaging	1.00
R7476:Ajap1	UTSW	4	153,469,312 (GRCm39)	missense	probably damaging	1.00
R7815:Ajap1	UTSW	4	153,517,288 (GRCm39)	missense	probably damaging	1.00
R8315:Ajap1	UTSW	4	153,516,813 (GRCm39)	missense	probably damaging	0.98
R8780:Ajap1	UTSW	4	153,470,961 (GRCm39)	missense	probably damaging	1.00
R9330:Ajap1	UTSW	4	153,516,961 (GRCm39)	missense	probably damaging	1.00
R9373:Ajap1	UTSW	4	153,516,670 (GRCm39)	missense	probably benign	0.00
X0028:Ajap1	UTSW	4	153,516,757 (GRCm39)	missense	probably damaging	0.99
Z1177:Ajap1	UTSW	4	153,516,893 (GRCm39)	missense	probably damaging	0.99
Z1177:Ajap1	UTSW	4	153,516,892 (GRCm39)	missense	probably benign	0.25

Posted On

2015-04-16