Mutagenetix > Incidental Mutations

Incidental Mutation 'R0136:Ap4b1'

21932

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

038421-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103809520-103822025 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 103809946 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000102436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000047285] [ENSMUST00000063502] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752] [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 null
Transcript: ENSMUST00000047285
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: M1T

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 null
Transcript: ENSMUST00000076599
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: M1T

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 null
Transcript: ENSMUST00000106823
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: M1T

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 null
Transcript: ENSMUST00000106824
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: M1T

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: ENSMUST00000198752

SMART Domains

Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	93	2e-64	BLAST
PDB:3ZDK\|A	1	97	1e-62	PDB
SCOP:d1a7ta_	3	93	5e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198835

Predicted Effect

probably null
Transcript: ENSMUST00000199710
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: M1T

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 null
Transcript: ENSMUST00000200377
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: M1T

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

0.9629

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arg2	T	C	12: 79,150,006	L167P	probably damaging	Het
Atxn1	A	G	13: 45,567,169	S417P	probably damaging	Het
Baz2b	A	G	2: 59,901,954	V1949A	probably benign	Het
Bcl3	A	G	7: 19,809,569	V324A	probably damaging	Het
Btbd10	A	T	7: 113,329,878	S230T	possibly damaging	Het
Camta1	A	G	4: 151,078,969	S1479P	probably damaging	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Col5a1	T	C	2: 28,024,831	L153P	probably damaging	Het
Crat	C	A	2: 30,407,030	V304L	probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Fau	T	C	19: 6,059,180	V86A	possibly damaging	Het
Garem1	T	G	18: 21,129,991	S589R	probably damaging	Het
Gbp3	T	G	3: 142,564,101		probably null	Het
Gin1	T	A	1: 97,783,016	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,815,416	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,439,293	I517T	probably benign	Het
Hivep2	T	C	10: 14,131,878	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,395,177	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,826,801	L588P	probably damaging	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Itgb1	T	G	8: 128,722,854	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,854,278		probably benign	Het
Map7d1	A	T	4: 126,236,631		probably null	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Med13l	A	G	5: 118,724,050	T353A	probably benign	Het
Mgat4b	T	C	11: 50,231,081	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,442,306	W211R	probably damaging	Het
Morc2a	T	G	11: 3,685,907		probably null	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Ndufa10	A	T	1: 92,463,128	Y233*	probably null	Het
Nek8	C	T	11: 78,171,207	S237N	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 126,391,335	S165P	probably benign	Het
Nsd2	A	G	5: 33,855,536	K404E	possibly damaging	Het
Nsd3	G	T	8: 25,659,854	E352*	probably null	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Olfr394	T	C	11: 73,887,785	M196V	probably benign	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Olfr983	A	G	9: 40,092,019	*312Q	probably null	Het
Patj	C	A	4: 98,667,648	Q297K	probably damaging	Het
Pelo	A	T	13: 115,088,903	C40*	probably null	Het
Pnpla3	G	A	15: 84,174,478		probably null	Het
Pramel1	C	A	4: 143,397,446	N230K	probably damaging	Het
Psg20	A	C	7: 18,682,507	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,959,821	F44L	probably benign	Het
Sept2	G	A	1: 93,507,050	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,648,931		probably benign	Het
Slc12a8	A	G	16: 33,608,213	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,578,674	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,662,596	F335L	probably benign	Het
Slc26a5	T	C	5: 21,834,347	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,676,205	S144G	probably benign	Het
Spata20	T	A	11: 94,480,609	D643V	probably damaging	Het
Spata24	T	C	18: 35,660,462	K99R	probably damaging	Het
Taar5	A	G	10: 23,971,709	Y335C	probably damaging	Het
Tpr	A	G	1: 150,430,595	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,217,783	Y360*	probably null	Het
Ybx1	C	A	4: 119,282,354	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,297,202	K720E	probably benign	Het
Zfp599	A	G	9: 22,249,742	S376P	probably benign	Het
Zic2	A	G	14: 122,476,541	E289G	probably damaging	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	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
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
R4079:Ap4b1	UTSW	3	103813378	missense	probably damaging	1.00
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'- ATTTCCGCAGGAAGCTGTCTGG -3'
(R):5'- GTTCCACACGGAAGACTGAGATGAC -3'

Sequencing Primer
(F):5'- GGCCACTGGGACTAGATTC -3'
(R):5'- TCTGAAGAGGATTAAAAGTggggc -3'

Posted On

2013-04-12