Mutagenetix > Incidental Mutation

Incidental Mutation 'R4241:Ap5b1'

320237

Institutional Source

Beutler Lab

Gene Symbol

Ap5b1

Ensembl Gene

ENSMUSG00000049562

Gene Name

adaptor-related protein complex 5, beta 1 subunit

Synonyms

Gm962

MMRRC Submission

041058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5618053-5621289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5618825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 82 (L82F)

Ref Sequence

ENSEMBL: ENSMUSP00000094042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096318]

AlphaFold

Q3TAP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096318
AA Change: L82F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094042
Gene: ENSMUSG00000049562
AA Change: L82F

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	68	75	N/A	INTRINSIC
low complexity region	84	104	N/A	INTRINSIC
low complexity region	114	136	N/A	INTRINSIC
low complexity region	185	199	N/A	INTRINSIC
low complexity region	283	301	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
low complexity region	511	524	N/A	INTRINSIC
low complexity region	616	644	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,548,497 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,500,912 (GRCm39)	S1113P	probably damaging	Het
Atoh1	A	C	6: 64,706,758 (GRCm39)	N151T	probably damaging	Het
Bcas3	T	A	11: 85,361,652 (GRCm39)	S25R	probably damaging	Het
Blcap	T	A	2: 157,402,343 (GRCm39)		probably benign	Het
Btbd6	C	T	12: 112,940,416 (GRCm39)	A13V	probably benign	Het
Ccdc83	A	C	7: 89,896,346 (GRCm39)	N74K	probably damaging	Het
Cdh9	A	G	15: 16,849,165 (GRCm39)		probably null	Het
Chd1	C	T	17: 15,990,289 (GRCm39)	R1614*	probably null	Het
Col16a1	G	T	4: 129,992,843 (GRCm39)	Q1567H	probably damaging	Het
Coq6	A	T	12: 84,420,563 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,737,611 (GRCm39)	D61G	probably benign	Het
Csnk1e	A	G	15: 79,309,095 (GRCm39)	F277S	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,663,787 (GRCm39)		noncoding transcript	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Eif3e	G	A	15: 43,126,086 (GRCm39)	T287I	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,760 (GRCm39)	S1575G	probably damaging	Het
Gm7135	A	G	1: 97,281,678 (GRCm39)		noncoding transcript	Het
Gpr176	A	T	2: 118,110,091 (GRCm39)	S389R	probably benign	Het
Hax1	A	G	3: 89,902,997 (GRCm39)	S257P	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Klhl13	T	A	X: 23,181,414 (GRCm39)	D2V	probably damaging	Het
Kynu	A	T	2: 43,571,422 (GRCm39)	H446L	probably benign	Het
Lingo1	A	G	9: 56,527,386 (GRCm39)	F401S	probably damaging	Het
Lmbrd1	C	T	1: 24,732,049 (GRCm39)	Q89*	probably null	Het
Mov10	T	A	3: 104,704,592 (GRCm39)	Q773L	probably benign	Het
Or52e19	G	T	7: 102,959,868 (GRCm39)	*313Y	probably null	Het
Or7c70	T	A	10: 78,683,739 (GRCm39)	R3S	probably benign	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Peli3	T	C	19: 4,982,426 (GRCm39)	H413R	probably damaging	Het
Pkdrej	C	T	15: 85,702,345 (GRCm39)	R1197Q	probably damaging	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Slc10a5	A	G	3: 10,400,520 (GRCm39)	S47P	probably damaging	Het
Sprr3	A	G	3: 92,364,214 (GRCm39)	V210A	possibly damaging	Het
Tcerg1l	G	T	7: 137,999,361 (GRCm39)	Q8K	unknown	Het
Ubfd1	T	C	7: 121,670,977 (GRCm39)	V265A	possibly damaging	Het
Ubr1	T	C	2: 120,764,867 (GRCm39)	D529G	possibly damaging	Het
Vmn1r180	A	T	7: 23,652,298 (GRCm39)	I154F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,925 (GRCm39)	H216R	possibly damaging	Het
Whrn	C	T	4: 63,351,210 (GRCm39)		probably benign	Het
Zfr	T	G	15: 12,149,745 (GRCm39)	D388E	probably damaging	Het
Zic5	T	C	14: 122,702,075 (GRCm39)	I219V	probably benign	Het
Zmat5	A	G	11: 4,678,614 (GRCm39)	N53D	probably benign	Het

Other mutations in Ap5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Ap5b1	APN	19	5,621,007 (GRCm39)	nonsense	probably null
IGL02121:Ap5b1	APN	19	5,620,815 (GRCm39)	missense	possibly damaging	0.92
R1513:Ap5b1	UTSW	19	5,619,892 (GRCm39)	nonsense	probably null
R2004:Ap5b1	UTSW	19	5,620,502 (GRCm39)	missense	possibly damaging	0.83
R2036:Ap5b1	UTSW	19	5,618,897 (GRCm39)	missense	possibly damaging	0.83
R2282:Ap5b1	UTSW	19	5,619,665 (GRCm39)	missense	possibly damaging	0.66
R3441:Ap5b1	UTSW	19	5,620,011 (GRCm39)	missense	probably benign
R3835:Ap5b1	UTSW	19	5,618,918 (GRCm39)	missense	possibly damaging	0.66
R5324:Ap5b1	UTSW	19	5,619,863 (GRCm39)	missense	possibly damaging	0.66
R5359:Ap5b1	UTSW	19	5,619,126 (GRCm39)	missense	possibly damaging	0.83
R7102:Ap5b1	UTSW	19	5,620,215 (GRCm39)	missense	possibly damaging	0.92
R7132:Ap5b1	UTSW	19	5,619,412 (GRCm39)	nonsense	probably null
R8548:Ap5b1	UTSW	19	5,621,123 (GRCm39)	missense	possibly damaging	0.46
Z1088:Ap5b1	UTSW	19	5,620,452 (GRCm39)	missense	possibly damaging	0.82
Z1177:Ap5b1	UTSW	19	5,620,956 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTGTTGAGTGACCTAAGG -3'
(R):5'- AAAGCTTCGTCCCAAGTCTC -3'

Sequencing Primer
(F):5'- TAGGTCCTGCCCGTGTG -3'
(R):5'- CAAGTCTCGGCCTGAAGCTAAG -3'

Posted On

2015-06-12