Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Ajap1'

579475

Institutional Source

Beutler Lab

Gene Symbol

Ajap1

Ensembl Gene

ENSMUSG00000039546

Gene Name

adherens junction associated protein 1

Synonyms

LOC230959

MMRRC Submission

045550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153457678-153567268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153469312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 373 (E373K)

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: E373K

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

SMART Domains

Protein: ENSMUSP00000101271
Gene: ENSMUSG00000039546
AA Change: E373K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,156,014 (GRCm39)	P27S	unknown	Het
Abi3bp	A	T	16: 56,435,109 (GRCm39)	K602*	probably null	Het
Adam29	G	T	8: 56,326,230 (GRCm39)	H75N	probably damaging	Het
Alg6	C	A	4: 99,632,113 (GRCm39)	H206N	probably damaging	Het
Alox5	A	T	6: 116,392,394 (GRCm39)	S376T	probably benign	Het
Arhgap19	A	T	19: 41,770,802 (GRCm39)	Y321N	probably benign	Het
Brip1	A	G	11: 86,048,634 (GRCm39)	V236A	probably benign	Het
C1ra	C	T	6: 124,499,658 (GRCm39)	P615S	probably damaging	Het
Ccdc69	C	T	11: 54,942,024 (GRCm39)	V161I	possibly damaging	Het
Chil5	G	A	3: 105,927,323 (GRCm39)	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,549,907 (GRCm39)	D30G	probably damaging	Het
Csmd1	A	G	8: 15,945,731 (GRCm39)	C3561R	probably damaging	Het
Daxx	T	G	17: 34,130,255 (GRCm39)	V90G	probably damaging	Het
Dgkg	T	A	16: 22,441,054 (GRCm39)		probably benign	Het
Dmrta2	A	G	4: 109,839,222 (GRCm39)	H323R	probably damaging	Het
Dysf	A	T	6: 84,041,878 (GRCm39)	T161S	probably benign	Het
Fat1	G	T	8: 45,484,311 (GRCm39)	R3183L	probably benign	Het
Fcho1	C	A	8: 72,166,190 (GRCm39)	D347Y	probably damaging	Het
Gm21798	T	C	15: 64,689,555 (GRCm39)	C5R	unknown	Het
Hmcn1	T	C	1: 150,456,018 (GRCm39)	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,514,459 (GRCm39)	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,364,950 (GRCm39)	D434G	probably benign	Het
Lgals8	A	T	13: 12,463,362 (GRCm39)	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,920 (GRCm39)	Y13*	probably null	Het
Malrd1	T	C	2: 16,147,115 (GRCm39)	S1986P	unknown	Het
Map3k9	C	T	12: 81,790,582 (GRCm39)	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,305,306 (GRCm39)	K487N	probably damaging	Het
Mrpl4	G	T	9: 20,914,067 (GRCm39)		probably benign	Het
Nectin2	T	C	7: 19,451,546 (GRCm39)	D496G	possibly damaging	Het
Nom1	T	C	5: 29,647,534 (GRCm39)	S590P	probably benign	Het
Noto	T	C	6: 85,402,481 (GRCm39)	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,271 (GRCm39)	D314E	probably damaging	Het
Nup93	T	C	8: 95,030,260 (GRCm39)	L373P	probably damaging	Het
Or2w1b	A	C	13: 21,300,191 (GRCm39)	I110L	probably benign	Het
Or4a2	T	C	2: 89,247,843 (GRCm39)	K305E	possibly damaging	Het
Or4c11c	A	G	2: 88,661,932 (GRCm39)	Q157R	probably benign	Het
Or5d40	A	T	2: 88,015,310 (GRCm39)	M30L	probably benign	Het
Or5g25	T	A	2: 85,478,512 (GRCm39)	Q51L	not run	Het
Or9s27	A	C	1: 92,516,986 (GRCm39)	R311S	probably benign	Het
Pclo	A	T	5: 14,571,345 (GRCm39)	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,331,264 (GRCm39)	C290S	probably damaging	Het
Pnlip	G	A	19: 58,668,066 (GRCm39)		probably null	Het
Pou2af3	G	A	9: 51,188,900 (GRCm39)	A19V	possibly damaging	Het
Ptprm	A	T	17: 67,032,786 (GRCm39)	H1022Q	probably benign	Het
Rfx2	T	C	17: 57,110,527 (GRCm39)	D153G	probably benign	Het
Rps6ka2	T	C	17: 7,539,032 (GRCm39)	F317L	probably damaging	Het
Rtl1	T	A	12: 109,557,539 (GRCm39)	E1433D	unknown	Het
Sarnp	A	G	10: 128,669,223 (GRCm39)	T27A	probably benign	Het
Shc3	A	T	13: 51,602,042 (GRCm39)	M295K	probably benign	Het
Slc1a3	T	A	15: 8,672,568 (GRCm39)	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,048,727 (GRCm39)	T351K	possibly damaging	Het
Snrk	A	G	9: 121,986,288 (GRCm39)	N219S	probably damaging	Het
Spats2	T	A	15: 99,110,022 (GRCm39)	V473E	probably benign	Het
Stk35	T	C	2: 129,652,645 (GRCm39)	L382P	probably damaging	Het
Tbx10	T	C	19: 4,049,034 (GRCm39)	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,578,082 (GRCm39)	L234P	probably damaging	Het
Ttn	T	G	2: 76,544,489 (GRCm39)	E32832D	probably benign	Het
Ttn	T	C	2: 76,601,530 (GRCm39)	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,622,353 (GRCm39)	M205K	probably damaging	Het
Utrn	C	A	10: 12,516,695 (GRCm39)	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,507,847 (GRCm39)	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,806,000 (GRCm39)	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,055,542 (GRCm39)	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,340,978 (GRCm39)	L1073P	probably benign	Het
Zfp82	A	G	7: 29,755,597 (GRCm39)	V495A	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
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
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

PCR Primer
(F):5'- TTTTGACAAGTCAGCTCCCTGC -3'
(R):5'- ACAAGCACTCTGGAACCTGC -3'

Sequencing Primer
(F):5'- AAGTCAGCTCCCTGCATGTG -3'
(R):5'- TCCTAGCTGTGCCCCAAG -3'

Posted On

2019-10-07