Mutagenetix > Incidental Mutation

Incidental Mutation 'R3441:Ap5b1'

267399

Institutional Source

Beutler Lab

Gene Symbol

Ap5b1

Ensembl Gene

ENSMUSG00000049562

Gene Name

adaptor-related protein complex 5, beta 1 subunit

Synonyms

Gm962

MMRRC Submission

040659-MU

Accession Numbers

Essential gene?

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

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5618053-5621289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5620011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 477 (H477R)

Ref Sequence

ENSEMBL: ENSMUSP00000094042 (fasta)

Gene Model

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

AlphaFold

Q3TAP4

Predicted Effect

probably benign
Transcript: ENSMUST00000096318
AA Change: H477R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094042
Gene: ENSMUSG00000049562
AA Change: H477R

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Asz1	A	C	6: 18,108,405 (GRCm39)	S68A	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Btnl6	T	C	17: 34,727,292 (GRCm39)	K413E	probably benign	Het
Cav3	G	A	6: 112,449,402 (GRCm39)	C140Y	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap91	T	C	16: 38,154,168 (GRCm39)	M126V	probably benign	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Cyba	C	T	8: 123,151,803 (GRCm39)	W103*	probably null	Het
Epha4	G	T	1: 77,403,333 (GRCm39)	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,817,071 (GRCm39)	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,592 (GRCm39)	A175V	probably benign	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Krtap24-1	T	C	16: 88,408,713 (GRCm39)	T138A	probably damaging	Het
Mrc2	A	T	11: 105,238,542 (GRCm39)	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,257,431 (GRCm39)	I109F	probably damaging	Het
Nav3	A	G	10: 109,540,789 (GRCm39)	F1947S	probably benign	Het
Or12e1	A	G	2: 87,022,162 (GRCm39)	I44V	probably benign	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Plxnc1	G	A	10: 94,706,872 (GRCm39)	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,151,214 (GRCm39)		probably benign	Het
Rag2	T	A	2: 101,460,645 (GRCm39)	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,438,025 (GRCm39)	F27L	probably damaging	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Teddm1b	A	G	1: 153,751,007 (GRCm39)	E272G	probably benign	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504 (GRCm39)	Y103N	probably benign	Het
Tmem98	A	G	11: 80,705,125 (GRCm39)	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,684,308 (GRCm39)	I258V	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
R3835:Ap5b1	UTSW	19	5,618,918 (GRCm39)	missense	possibly damaging	0.66
R4241:Ap5b1	UTSW	19	5,618,825 (GRCm39)	missense	possibly damaging	0.92
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'- TTCATGACCCAACGGTTCTC -3'
(R):5'- ATCTGCAGGTGCCAGCAAAG -3'

Sequencing Primer
(F):5'- ACCCAACGGTTCTCCTGGC -3'
(R):5'- AGGGCTTCGCTCTCGCC -3'

Posted On

2015-02-18