Mutagenetix > Incidental Mutation

Incidental Mutation 'R6060:Ajap1'

483178

Institutional Source

Beutler Lab

Gene Symbol

Ajap1

Ensembl Gene

ENSMUSG00000039546

Gene Name

adherens junction associated protein 1

Synonyms

LOC230959

MMRRC Submission

044426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6060 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153457678-153567268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153516699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 214 (T214I)

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: T214I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: T214I

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	G	16: 88,966,630 (GRCm39)		probably null	Het
Adh1	T	C	3: 137,992,544 (GRCm39)	I220T	probably damaging	Het
Ank2	A	G	3: 126,749,601 (GRCm39)	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,201,582 (GRCm39)	K27E	possibly damaging	Het
BC034090	A	G	1: 155,117,245 (GRCm39)	I291T	probably benign	Het
Cnot9	T	A	1: 74,556,285 (GRCm39)	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,153,857 (GRCm39)	L244*	probably null	Het
Cyp2d22	T	C	15: 82,260,086 (GRCm39)	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,107,799 (GRCm39)	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,968,093 (GRCm39)	S61*	probably null	Het
Dpysl4	A	G	7: 138,669,324 (GRCm39)	M1V	probably null	Het
Fam149a	T	A	8: 45,811,799 (GRCm39)		probably benign	Het
Fam184b	T	C	5: 45,710,489 (GRCm39)	E547G	probably damaging	Het
Fam47e	T	A	5: 92,727,472 (GRCm39)	F127I	possibly damaging	Het
Ifi207	G	A	1: 173,558,093 (GRCm39)	T215I	unknown	Het
Iftap	T	C	2: 101,440,950 (GRCm39)	K18E	probably benign	Het
Lpxn	T	C	19: 12,810,489 (GRCm39)	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,640,946 (GRCm39)	N3499K		Het
Mknk2	A	T	10: 80,507,468 (GRCm39)	D76E	probably benign	Het
Nectin2	A	T	7: 19,451,700 (GRCm39)	Y445N	probably damaging	Het
Ngb	A	C	12: 87,146,963 (GRCm39)	S85A	probably benign	Het
Nrp1	C	A	8: 129,224,419 (GRCm39)	H727Q	probably damaging	Het
Or5b112	C	T	19: 13,319,497 (GRCm39)	A125V	probably benign	Het
Or6k2	C	A	1: 173,986,907 (GRCm39)	C189*	probably null	Het
Pold3	A	C	7: 99,749,819 (GRCm39)	Y115*	probably null	Het
Ppp1r12b	C	G	1: 134,883,262 (GRCm39)	V87L	probably benign	Het
Ppp1r26	A	G	2: 28,341,042 (GRCm39)	N224S	probably benign	Het
Prl7a1	G	A	13: 27,821,571 (GRCm39)	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,289,612 (GRCm39)	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,411,752 (GRCm39)	I214L	probably benign	Het
Safb2	A	T	17: 56,870,246 (GRCm39)		probably null	Het
Serpinb6e	A	G	13: 34,025,256 (GRCm39)	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,261,209 (GRCm39)	N2K	possibly damaging	Het
Slc12a4	G	A	8: 106,672,338 (GRCm39)	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,767,972 (GRCm39)	M179V	probably benign	Het
Slc9a3	A	G	13: 74,299,004 (GRCm39)	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,522,918 (GRCm39)	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,333,331 (GRCm39)	N642S	possibly damaging	Het
Ttll13	G	A	7: 79,908,491 (GRCm39)	R576H	probably damaging	Het
Zar1	T	A	5: 72,738,272 (GRCm39)	R43S	probably benign	Het
Zfp455	A	G	13: 67,355,257 (GRCm39)	Y175C	probably 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
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
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

Predicted Primers

Posted On

2017-07-14