Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Ap1b1'

296273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1b1

Ensembl Gene

ENSMUSG00000009090

Gene Name

adaptor protein complex AP-1, beta 1 subunit

Synonyms

Adtb1, beta-prime adaptin, b2b1660Clo

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

4936824-4992791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4981700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 536 (A536V)

Ref Sequence

ENSEMBL: ENSMUSP00000009234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]

AlphaFold

O35643

Predicted Effect

probably benign
Transcript: ENSMUST00000009234
AA Change: A536V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: A536V

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	1.5e-174	PFAM
Pfam:HEAT_2	88	157	3.2e-8	PFAM
Pfam:Cnd1	99	268	4.1e-41	PFAM
low complexity region	594	616	N/A	INTRINSIC
low complexity region	626	638	N/A	INTRINSIC
low complexity region	657	670	N/A	INTRINSIC
low complexity region	674	686	N/A	INTRINSIC
Alpha_adaptinC2	713	823	3.38e-18	SMART
B2-adapt-app_C	832	942	4.6e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101613
AA Change: A509V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: A509V

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	179	7.5e-61	PFAM
Pfam:HEAT_2	88	179	2e-9	PFAM
Pfam:Cnd1	99	176	2.4e-19	PFAM
Pfam:Cnd1	174	241	1.9e-10	PFAM
Pfam:Adaptin_N	176	507	3.8e-102	PFAM
low complexity region	567	589	N/A	INTRINSIC
low complexity region	599	611	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	654	666	N/A	INTRINSIC
Alpha_adaptinC2	693	803	3.38e-18	SMART
B2-adapt-app_C	812	922	4.6e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109897
AA Change: A509V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: A509V

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	179	1.2e-60	PFAM
Pfam:HEAT_2	88	185	3.9e-10	PFAM
Pfam:Cnd1	99	175	5e-20	PFAM
Pfam:Cnd1	174	241	1.7e-7	PFAM
Pfam:Adaptin_N	176	507	4.9e-102	PFAM
low complexity region	567	589	N/A	INTRINSIC
low complexity region	599	611	N/A	INTRINSIC
low complexity region	630	643	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
Alpha_adaptinC2	686	796	3.38e-18	SMART
B2-adapt-app_C	805	915	4.6e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145704

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Ap1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Ap1b1	APN	11	4,969,433 (GRCm39)	missense	probably damaging	1.00
IGL01843:Ap1b1	APN	11	4,989,169 (GRCm39)	missense	probably damaging	1.00
IGL01981:Ap1b1	APN	11	4,969,336 (GRCm39)	missense	possibly damaging	0.84
IGL02055:Ap1b1	APN	11	4,974,452 (GRCm39)	nonsense	probably null
IGL02318:Ap1b1	APN	11	4,969,294 (GRCm39)	missense	probably benign	0.14
IGL02824:Ap1b1	APN	11	4,983,738 (GRCm39)	missense	possibly damaging	0.47
IGL02825:Ap1b1	APN	11	4,983,738 (GRCm39)	missense	possibly damaging	0.47
IGL02963:Ap1b1	APN	11	4,983,738 (GRCm39)	missense	possibly damaging	0.47
PIT4142001:Ap1b1	UTSW	11	4,990,360 (GRCm39)	missense	probably damaging	1.00
R0321:Ap1b1	UTSW	11	4,982,464 (GRCm39)	missense	probably benign
R0477:Ap1b1	UTSW	11	4,981,787 (GRCm39)	missense	probably benign	0.13
R0622:Ap1b1	UTSW	11	4,987,707 (GRCm39)	missense	probably damaging	0.96
R0831:Ap1b1	UTSW	11	4,973,092 (GRCm39)	splice site	probably benign
R1502:Ap1b1	UTSW	11	4,990,290 (GRCm39)	missense	probably benign
R1529:Ap1b1	UTSW	11	4,989,547 (GRCm39)	missense	probably damaging	1.00
R2110:Ap1b1	UTSW	11	4,965,613 (GRCm39)	missense	probably damaging	0.99
R2112:Ap1b1	UTSW	11	4,965,613 (GRCm39)	missense	probably damaging	0.99
R2186:Ap1b1	UTSW	11	4,965,737 (GRCm39)	missense	possibly damaging	0.84
R2906:Ap1b1	UTSW	11	4,981,641 (GRCm39)	missense	probably damaging	1.00
R2907:Ap1b1	UTSW	11	4,981,641 (GRCm39)	missense	probably damaging	1.00
R2908:Ap1b1	UTSW	11	4,981,641 (GRCm39)	missense	probably damaging	1.00
R3154:Ap1b1	UTSW	11	4,973,135 (GRCm39)	missense	possibly damaging	0.95
R3611:Ap1b1	UTSW	11	4,974,427 (GRCm39)	missense	possibly damaging	0.87
R3805:Ap1b1	UTSW	11	4,983,225 (GRCm39)	splice site	probably null
R4207:Ap1b1	UTSW	11	4,981,637 (GRCm39)	missense	probably damaging	0.96
R4660:Ap1b1	UTSW	11	4,966,760 (GRCm39)	missense	probably damaging	1.00
R4710:Ap1b1	UTSW	11	4,981,664 (GRCm39)	missense	probably damaging	0.97
R4826:Ap1b1	UTSW	11	4,968,043 (GRCm39)	missense	probably benign	0.11
R4914:Ap1b1	UTSW	11	4,974,400 (GRCm39)	missense	possibly damaging	0.73
R5086:Ap1b1	UTSW	11	4,968,020 (GRCm39)	missense	possibly damaging	0.83
R5249:Ap1b1	UTSW	11	4,976,364 (GRCm39)	missense	probably damaging	0.97
R6014:Ap1b1	UTSW	11	4,969,364 (GRCm39)	missense	possibly damaging	0.55
R6268:Ap1b1	UTSW	11	4,969,493 (GRCm39)	missense	probably damaging	1.00
R6388:Ap1b1	UTSW	11	4,976,319 (GRCm39)	missense	probably damaging	1.00
R6765:Ap1b1	UTSW	11	4,969,427 (GRCm39)	missense	probably damaging	1.00
R6913:Ap1b1	UTSW	11	4,962,972 (GRCm39)	missense	possibly damaging	0.84
R7012:Ap1b1	UTSW	11	4,980,963 (GRCm39)	missense	probably damaging	1.00
R7107:Ap1b1	UTSW	11	4,989,558 (GRCm39)	missense	probably benign	0.02
R8291:Ap1b1	UTSW	11	4,968,027 (GRCm39)	missense	probably damaging	1.00
R9075:Ap1b1	UTSW	11	4,975,597 (GRCm39)	missense	possibly damaging	0.93
R9090:Ap1b1	UTSW	11	4,973,174 (GRCm39)	missense	probably damaging	1.00
R9271:Ap1b1	UTSW	11	4,973,174 (GRCm39)	missense	probably damaging	1.00
R9297:Ap1b1	UTSW	11	4,990,157 (GRCm39)	missense	probably benign	0.05
R9318:Ap1b1	UTSW	11	4,990,157 (GRCm39)	missense	probably benign	0.05
R9560:Ap1b1	UTSW	11	4,976,363 (GRCm39)	missense	probably benign	0.38
X0018:Ap1b1	UTSW	11	4,959,581 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16