Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Ap4b1'

187787

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

039709-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R1673 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

103716836-103729341 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 103725161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047285] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000106824] [ENSMUST00000199710] [ENSMUST00000200377] [ENSMUST00000200377]

AlphaFold

Q9WV76

Predicted Effect

probably null
Transcript: ENSMUST00000047285

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952

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 null
Transcript: ENSMUST00000076599

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952

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 benign
Transcript: ENSMUST00000106823

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952

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

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952

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 null
Transcript: ENSMUST00000106824

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952

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: ENSMUST00000199686

Predicted Effect

probably benign
Transcript: ENSMUST00000199710

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053

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

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

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,464,561 (GRCm39)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,877,093 (GRCm39)		probably null	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,133,491 (GRCm39)	V650D	probably benign	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,073,919 (GRCm39)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp408	G	A	2: 91,476,353 (GRCm39)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	probably damaging	Het

Other mutations in Ap4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Ap4b1	APN	3	103,728,858 (GRCm39)	missense	probably benign	0.19
IGL01545:Ap4b1	APN	3	103,720,143 (GRCm39)	missense	probably benign	0.02
IGL02422:Ap4b1	APN	3	103,720,170 (GRCm39)	missense	possibly damaging	0.95
IGL02525:Ap4b1	APN	3	103,720,164 (GRCm39)	missense	probably damaging	1.00
R0035:Ap4b1	UTSW	3	103,727,980 (GRCm39)	splice site	probably benign
R0035:Ap4b1	UTSW	3	103,727,980 (GRCm39)	splice site	probably benign
R0086:Ap4b1	UTSW	3	103,722,176 (GRCm39)	missense	probably damaging	0.99
R0090:Ap4b1	UTSW	3	103,727,745 (GRCm39)	missense	possibly damaging	0.91
R0136:Ap4b1	UTSW	3	103,717,262 (GRCm39)	start codon destroyed	probably null	1.00
R0299:Ap4b1	UTSW	3	103,717,262 (GRCm39)	start codon destroyed	probably null	1.00
R0403:Ap4b1	UTSW	3	103,728,712 (GRCm39)	missense	probably benign	0.00
R0403:Ap4b1	UTSW	3	103,726,155 (GRCm39)	missense	probably damaging	0.99
R1283:Ap4b1	UTSW	3	103,726,177 (GRCm39)	missense	probably damaging	1.00
R1797:Ap4b1	UTSW	3	103,726,149 (GRCm39)	missense	possibly damaging	0.92
R1869:Ap4b1	UTSW	3	103,728,184 (GRCm39)	nonsense	probably null
R2925:Ap4b1	UTSW	3	103,727,997 (GRCm39)	missense	probably damaging	1.00
R3905:Ap4b1	UTSW	3	103,726,209 (GRCm39)	missense	possibly damaging	0.94
R4079:Ap4b1	UTSW	3	103,720,694 (GRCm39)	missense	probably damaging	1.00
R4645:Ap4b1	UTSW	3	103,728,765 (GRCm39)	missense	probably benign	0.32
R4786:Ap4b1	UTSW	3	103,726,120 (GRCm39)	missense	probably benign	0.00
R5824:Ap4b1	UTSW	3	103,720,701 (GRCm39)	missense	probably benign	0.30
R6342:Ap4b1	UTSW	3	103,720,684 (GRCm39)	missense	possibly damaging	0.60
R6826:Ap4b1	UTSW	3	103,720,224 (GRCm39)	critical splice donor site	probably null
R6923:Ap4b1	UTSW	3	103,719,530 (GRCm39)	missense	probably benign	0.19
R6974:Ap4b1	UTSW	3	103,720,601 (GRCm39)	nonsense	probably null
R7409:Ap4b1	UTSW	3	103,719,474 (GRCm39)	missense	probably damaging	0.98
R7827:Ap4b1	UTSW	3	103,722,398 (GRCm39)	missense	probably damaging	1.00
R8432:Ap4b1	UTSW	3	103,728,135 (GRCm39)	missense	probably benign	0.00
R8499:Ap4b1	UTSW	3	103,728,018 (GRCm39)	missense	probably damaging	0.98
R8504:Ap4b1	UTSW	3	103,720,116 (GRCm39)	missense	probably damaging	0.99
R8897:Ap4b1	UTSW	3	103,729,065 (GRCm39)	missense	probably benign
R9138:Ap4b1	UTSW	3	103,722,626 (GRCm39)	missense	probably damaging	1.00
R9283:Ap4b1	UTSW	3	103,722,259 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- acaggtgtgcaactttgtcTTTGACTA -3'
(R):5'- GCACAGCCTCACTTCTCCttgttttt -3'

Sequencing Primer
(F):5'- tgcaactttgtcTTTGACTAATGGG -3'
(R):5'- ctcaaactcagaaatccgcc -3'

Posted On

2014-05-09