Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Ap4b1'

19398

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

038329-MU

Accession Numbers

Essential gene?

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

Stock #

R0035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103716836-103729341 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 103727980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143355 (fasta)

Gene Model

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

AlphaFold

Q9WV76

Predicted Effect

probably benign
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 benign
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 benign
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

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

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
3110040N11Rik	T	C	7: 81,438,297 (GRCm39)	T20A	probably benign	Het
Aadacl4	A	G	4: 144,344,511 (GRCm39)	T96A	probably damaging	Het
Abcb6	A	G	1: 75,151,651 (GRCm39)	V473A	possibly damaging	Het
Abo	C	A	2: 26,733,385 (GRCm39)	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Adcy8	A	T	15: 64,571,217 (GRCm39)	V1142D	probably benign	Het
Akna	T	A	4: 63,300,682 (GRCm39)	H591L	probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Armh3	A	T	19: 45,879,679 (GRCm39)	M558K	probably damaging	Het
Atm	A	G	9: 53,424,480 (GRCm39)	V607A	probably benign	Het
Bltp1	T	A	3: 37,041,747 (GRCm39)	Y2708*	probably null	Het
Cass4	C	T	2: 172,258,412 (GRCm39)	P137S	probably damaging	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Chmp6	T	C	11: 119,807,508 (GRCm39)	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Cntn1	T	A	15: 92,129,969 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,650,474 (GRCm39)	G577R	unknown	Het
Defa21	T	A	8: 21,515,784 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,776 (GRCm39)	E96D	probably damaging	Het
Hspd1	A	G	1: 55,122,942 (GRCm39)	V151A	probably benign	Het
Htr1f	A	C	16: 64,746,860 (GRCm39)	I144S	probably damaging	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il25	A	G	14: 55,170,553 (GRCm39)	E42G	probably damaging	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Klrb1-ps1	C	T	6: 129,106,306 (GRCm39)	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,690,619 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Lama4	T	A	10: 38,948,734 (GRCm39)	D832E	probably benign	Het
Map1b	A	G	13: 99,571,846 (GRCm39)	S292P	probably damaging	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Me3	C	A	7: 89,500,967 (GRCm39)	H559Q	probably benign	Het
Myo1b	A	G	1: 51,817,541 (GRCm39)	F574L	probably damaging	Het
Nos2	T	C	11: 78,836,553 (GRCm39)	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Nup214	T	C	2: 31,880,379 (GRCm39)		probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Or14a259	T	C	7: 86,013,395 (GRCm39)	D50G	possibly damaging	Het
Or5k1	A	T	16: 58,617,485 (GRCm39)	C241*	probably null	Het
Osbp2	C	T	11: 3,667,997 (GRCm39)		probably benign	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,681,091 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,414,080 (GRCm39)	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Trank1	A	T	9: 111,195,844 (GRCm39)	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,066,240 (GRCm39)	S333P	probably damaging	Het
Ush2a	G	A	1: 188,089,085 (GRCm39)	V347I	probably benign	Het
Usp17le	G	T	7: 104,418,269 (GRCm39)	S291*	probably null	Het
Usp24	T	A	4: 106,225,224 (GRCm39)	S619T	probably benign	Het
Vmn2r10	T	C	5: 109,145,467 (GRCm39)		probably benign	Het
Vmn2r78	A	G	7: 86,569,413 (GRCm39)	E102G	probably benign	Het
Vwa3b	G	A	1: 37,204,770 (GRCm39)	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116 (GRCm39)	I639R	probably damaging	Het
Xpo5	A	G	17: 46,551,101 (GRCm39)	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	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
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
R1673:Ap4b1	UTSW	3	103,725,161 (GRCm39)	critical splice donor site	probably null
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'- ATGGAGCTACTGACCGCACTGATG -3'
(R):5'- CGGCTGATCCTCCAAAAGTCCAAG -3'

Sequencing Primer
(F):5'- AATACTTGCTGAGACCCATGCTG -3'
(R):5'- TGATCCTCCAAAAGTCCAAGAGAAG -3'

Posted On

2013-04-11