Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01638:Ajap1'

93150

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 #

IGL01638

Quality Score

Status

Chromosome

Chromosomal Location

153457678-153567268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153516693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 216 (V216A)

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: V216A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: V216A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,409 (GRCm39)	T436A	probably benign	Het
Adgrb3	T	A	1: 25,598,832 (GRCm39)		probably benign	Het
Akap7	T	A	10: 25,143,323 (GRCm39)	I124F	probably damaging	Het
Arfgef2	G	A	2: 166,715,865 (GRCm39)	V1385M	probably damaging	Het
Arhgap30	A	G	1: 171,225,138 (GRCm39)	K65E	probably damaging	Het
Bltp1	A	G	3: 37,028,460 (GRCm39)	N2377D	probably damaging	Het
Cacna1a	T	C	8: 85,298,456 (GRCm39)	F1260S	probably damaging	Het
Cad	T	A	5: 31,224,958 (GRCm39)	C954S	probably damaging	Het
Fcmr	A	T	1: 130,802,859 (GRCm39)	E157D	probably benign	Het
Gm4204	A	T	1: 135,160,873 (GRCm39)		noncoding transcript	Het
Gzmn	A	T	14: 56,406,476 (GRCm39)	D16E	probably benign	Het
Krt86	A	C	15: 101,373,353 (GRCm39)		probably benign	Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Ms4a6d	A	T	19: 11,564,532 (GRCm39)	L113Q	probably damaging	Het
Myh15	T	C	16: 48,889,843 (GRCm39)	S145P	probably damaging	Het
Nav3	T	C	10: 109,688,724 (GRCm39)	K518E	probably damaging	Het
Or8d6	T	C	9: 39,853,816 (GRCm39)	S87P	probably benign	Het
Parp11	T	A	6: 127,468,492 (GRCm39)	F181I	probably benign	Het
Ppil1	C	A	17: 29,480,766 (GRCm39)	K52N	probably benign	Het
Prl5a1	T	A	13: 28,329,422 (GRCm39)	C34S	possibly damaging	Het
Prss55	A	G	14: 64,314,636 (GRCm39)	V178A	probably benign	Het
S100a7a	A	G	3: 90,562,837 (GRCm39)	D8G	probably benign	Het
Sh3glb2	A	G	2: 30,235,862 (GRCm39)	V310A	possibly damaging	Het
Slc22a7	T	C	17: 46,748,920 (GRCm39)		probably null	Het
Slc27a6	A	G	18: 58,740,885 (GRCm39)	D482G	probably damaging	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Specc1l	T	A	10: 75,082,039 (GRCm39)	Y478*	probably null	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Tcerg1l	G	A	7: 137,881,805 (GRCm39)	R295C	probably damaging	Het
Trpv1	T	C	11: 73,144,155 (GRCm39)	I637T	probably damaging	Het
Ttc7	A	C	17: 87,666,540 (GRCm39)		probably null	Het
Vmn1r6	C	T	6: 56,980,177 (GRCm39)	Q280*	probably null	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
IGL02248:Ajap1	APN	4	153,516,568 (GRCm39)	missense	possibly damaging	0.50
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

2013-12-09