Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Ajap1'

75504

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 #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

153373221-153482811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153386481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 290 (V290I)

Ref Sequence

ENSEMBL: ENSMUSP00000101271 (fasta)

Gene Model

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

AlphaFold

A2ALI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105646
AA Change: V290I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: V290I

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

unknown
Transcript: ENSMUST00000149177
AA Change: R21H

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	G	17: 65,970,340		probably benign	Het
Anxa4	A	T	6: 86,752,205	I140N	probably damaging	Het
Asap2	A	G	12: 21,218,086		probably benign	Het
Cd36	C	T	5: 17,813,074	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,314,876	L336S	probably benign	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Gpr146	A	T	5: 139,378,904		probably benign	Het
Irf1	T	C	11: 53,774,361	V188A	probably benign	Het
Limk1	G	A	5: 134,657,900		probably benign	Het
Mcidas	T	C	13: 112,999,069	F342S	probably damaging	Het
Mctp1	A	G	13: 76,384,955	T141A	probably benign	Het
Mnd1	C	A	3: 84,116,477	A101S	probably benign	Het
Nsun7	T	C	5: 66,294,868	S466P	probably damaging	Het
Olfr1279	T	A	2: 111,307,093	I296K	probably benign	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr617	A	G	7: 103,584,373	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,852,857	G371V	probably damaging	Het
Sdad1	A	G	5: 92,302,679	V199A	probably damaging	Het
Spg11	C	T	2: 122,113,156	V172I	probably benign	Het
Tas2r108	A	G	6: 40,493,751	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,492,466	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,518,297	D384G	probably damaging	Het
Trank1	A	G	9: 111,365,520	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,025,421	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,210,616		probably null	Het

Other mutations in Ajap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Ajap1	APN	4	153432279	missense	probably damaging	0.99
IGL01638:Ajap1	APN	4	153432236	missense	possibly damaging	0.93
IGL02248:Ajap1	APN	4	153432111	missense	possibly damaging	0.50
IGL02888:Ajap1	APN	4	153432261	missense	probably benign	0.32
R0924:Ajap1	UTSW	4	153386472	missense	probably damaging	1.00
R2905:Ajap1	UTSW	4	153432827	missense	probably benign	0.11
R5607:Ajap1	UTSW	4	153432204	missense	possibly damaging	0.65
R5875:Ajap1	UTSW	4	153432341	missense	probably damaging	1.00
R6060:Ajap1	UTSW	4	153432242	missense	probably damaging	1.00
R7476:Ajap1	UTSW	4	153384855	missense	probably damaging	1.00
R7815:Ajap1	UTSW	4	153432831	missense	probably damaging	1.00
R8315:Ajap1	UTSW	4	153432356	missense	probably damaging	0.98
R8780:Ajap1	UTSW	4	153386504	missense	probably damaging	1.00
R9330:Ajap1	UTSW	4	153432504	missense	probably damaging	1.00
R9373:Ajap1	UTSW	4	153432213	missense	probably benign	0.00
X0028:Ajap1	UTSW	4	153432300	missense	probably damaging	0.99
Z1177:Ajap1	UTSW	4	153432436	missense	probably damaging	0.99
Z1177:Ajap1	UTSW	4	153432435	missense	probably benign	0.25

Posted On

2013-10-07