Mutagenetix > Incidental Mutations

Incidental Mutation 'R4079:Ap4b1'

316737

Institutional Source

Beutler Lab

Gene Symbol

Ap4b1

Ensembl Gene

ENSMUSG00000032952

Gene Name

adaptor-related protein complex AP-4, beta 1

Synonyms

AP-4 beta-4, 1810038H16Rik

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103809520-103822025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103813378 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 121 (N121K)

Ref Sequence

ENSEMBL: ENSMUSP00000143463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000047285] [ENSMUST00000063502] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000199710] [ENSMUST00000200377]

Predicted Effect

probably benign
Transcript: ENSMUST00000029435

SMART Domains

Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART
Pfam:DRMBL	215	301	1e-13	PFAM
PDB:3BUA\|H	492	526	1e-10	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000047285
AA Change: N196K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: N196K

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	7e-94	PFAM
Pfam:Cnd1	98	269	2.4e-11	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063502

SMART Domains

Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	49	4e-24	BLAST
Pfam:DRMBL	89	176	7.4e-20	PFAM
PDB:3BUA\|H	366	400	8e-11	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000076599
AA Change: N196K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: N196K

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	1e-93	PFAM
Pfam:Cnd1	98	286	3.9e-10	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106823
AA Change: N196K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: N196K

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	374	2e-68	PFAM
Pfam:Cnd1	98	285	1.4e-10	PFAM
Pfam:Adaptin_N	371	497	5.2e-16	PFAM
B2-adapt-app_C	591	703	3.75e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106824
AA Change: N121K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: N121K

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106832

SMART Domains

Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106834

SMART Domains

Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART
Pfam:DRMBL	215	302	7.9e-20	PFAM
PDB:3BUA\|H	492	526	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128716

SMART Domains

Protein: ENSMUSP00000121063
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	63	3e-40	BLAST
PDB:3ZDK\|A	1	63	3e-34	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149374

Predicted Effect

probably benign
Transcript: ENSMUST00000199686

Predicted Effect

probably damaging
Transcript: ENSMUST00000199710
AA Change: N121K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: N121K

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199723

Predicted Effect

probably benign
Transcript: ENSMUST00000200377

SMART Domains

Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	7	357	2.9e-45	PFAM
B2-adapt-app_C	451	563	2.8e-46	SMART

Meta Mutation Damage Score

0.7193

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit poor rotarod performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably damaging	Het

Other mutations in Ap4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Ap4b1	APN	3	103821542	missense	probably benign	0.19
IGL01545:Ap4b1	APN	3	103812827	missense	probably benign	0.02
IGL02422:Ap4b1	APN	3	103812854	missense	possibly damaging	0.95
IGL02525:Ap4b1	APN	3	103812848	missense	probably damaging	1.00
R0035:Ap4b1	UTSW	3	103820664	splice site	probably benign
R0035:Ap4b1	UTSW	3	103820664	splice site	probably benign
R0086:Ap4b1	UTSW	3	103814860	missense	probably damaging	0.99
R0090:Ap4b1	UTSW	3	103820429	missense	possibly damaging	0.91
R0136:Ap4b1	UTSW	3	103809946	start codon destroyed	probably null	1.00
R0299:Ap4b1	UTSW	3	103809946	start codon destroyed	probably null	1.00
R0403:Ap4b1	UTSW	3	103818839	missense	probably damaging	0.99
R0403:Ap4b1	UTSW	3	103821396	missense	probably benign	0.00
R1283:Ap4b1	UTSW	3	103818861	missense	probably damaging	1.00
R1673:Ap4b1	UTSW	3	103817845	critical splice donor site	probably null
R1797:Ap4b1	UTSW	3	103818833	missense	possibly damaging	0.92
R1869:Ap4b1	UTSW	3	103820868	nonsense	probably null
R2925:Ap4b1	UTSW	3	103820681	missense	probably damaging	1.00
R3905:Ap4b1	UTSW	3	103818893	missense	possibly damaging	0.94
R4645:Ap4b1	UTSW	3	103821449	missense	probably benign	0.32
R4786:Ap4b1	UTSW	3	103818804	missense	probably benign	0.00
R5824:Ap4b1	UTSW	3	103813385	missense	probably benign	0.30
R6342:Ap4b1	UTSW	3	103813368	missense	possibly damaging	0.60
R6826:Ap4b1	UTSW	3	103812908	critical splice donor site	probably null
R6923:Ap4b1	UTSW	3	103812214	missense	probably benign	0.19
R6974:Ap4b1	UTSW	3	103813285	nonsense	probably null
R7409:Ap4b1	UTSW	3	103812158	missense	probably damaging	0.98
R7827:Ap4b1	UTSW	3	103815082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCTGGCCAGAGCTGTTAC -3'
(R):5'- TCCACAGCATGTTCCTACTG -3'

Sequencing Primer
(F):5'- AGAGCTGTTACTCTGGTTCTGTCAC -3'
(R):5'- AGGAAGGCTTAGTTTAATGC -3'

Posted On

2015-05-15