Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Ap4b1'

542331

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

045084-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103716836-103729341 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 103720601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 90 (Y90*)

Ref Sequence

ENSEMBL: ENSMUSP00000143463 (fasta)

Gene Model

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

AlphaFold

Q9WV76

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: Y165*

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: Y165*

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: Y165*

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: Y165*

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: Y165*

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: Y165*

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: Y90*

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: Y90*

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

probably benign
Transcript: ENSMUST00000199686

Predicted Effect

probably null
Transcript: ENSMUST00000199710
AA Change: Y90*

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: Y90*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,742,864 (GRCm39)	T74M	probably benign	Het
Auts2	T	C	5: 131,469,437 (GRCm39)	T627A	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Ist1	A	T	8: 110,404,284 (GRCm39)	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Parp1	T	A	1: 180,417,071 (GRCm39)	Y618*	probably null	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 22,045,570 (GRCm39)	S133P	probably damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	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
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
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'- AATAAGATGCGTGCCCATTTG -3'
(R):5'- GGAAGGCTTAGTTTAATGCATCAAC -3'

Sequencing Primer
(F):5'- GGCTCCTATTTTCAGTCTTCAAATG -3'
(R):5'- TTCCTCTAGAGACCTCAGA -3'

Posted On

2018-11-28