Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01759:Ap1b1'

153526

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

4986824-5042791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5019433 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 263 (T263I)

Ref Sequence

ENSEMBL: ENSMUSP00000105523 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000009234
AA Change: T290I

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

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: T290I

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 damaging
Transcript: ENSMUST00000101613
AA Change: T263I

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

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: T263I

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 damaging
Transcript: ENSMUST00000109897
AA Change: T263I

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

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: T263I

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: ENSMUST00000133014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144426

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cdh17	T	A	4: 11,771,262		probably benign	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cep97	T	C	16: 55,930,573	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
L3mbtl3	A	G	10: 26,331,900	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Nrxn2	T	C	19: 6,509,929	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	Het

Other mutations in Ap1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Ap1b1	APN	11	5039169	missense	probably damaging	1.00
IGL01981:Ap1b1	APN	11	5019336	missense	possibly damaging	0.84
IGL02055:Ap1b1	APN	11	5024452	nonsense	probably null
IGL02318:Ap1b1	APN	11	5019294	missense	probably benign	0.14
IGL02505:Ap1b1	APN	11	5031700	missense	probably benign	0.11
IGL02824:Ap1b1	APN	11	5033738	missense	possibly damaging	0.47
IGL02825:Ap1b1	APN	11	5033738	missense	possibly damaging	0.47
IGL02963:Ap1b1	APN	11	5033738	missense	possibly damaging	0.47
PIT4142001:Ap1b1	UTSW	11	5040360	missense	probably damaging	1.00
R0321:Ap1b1	UTSW	11	5032464	missense	probably benign
R0477:Ap1b1	UTSW	11	5031787	missense	probably benign	0.13
R0622:Ap1b1	UTSW	11	5037707	missense	probably damaging	0.96
R0831:Ap1b1	UTSW	11	5023092	splice site	probably benign
R1502:Ap1b1	UTSW	11	5040290	missense	probably benign
R1529:Ap1b1	UTSW	11	5039547	missense	probably damaging	1.00
R2110:Ap1b1	UTSW	11	5015613	missense	probably damaging	0.99
R2112:Ap1b1	UTSW	11	5015613	missense	probably damaging	0.99
R2186:Ap1b1	UTSW	11	5015737	missense	possibly damaging	0.84
R2906:Ap1b1	UTSW	11	5031641	missense	probably damaging	1.00
R2907:Ap1b1	UTSW	11	5031641	missense	probably damaging	1.00
R2908:Ap1b1	UTSW	11	5031641	missense	probably damaging	1.00
R3154:Ap1b1	UTSW	11	5023135	missense	possibly damaging	0.95
R3611:Ap1b1	UTSW	11	5024427	missense	possibly damaging	0.87
R3805:Ap1b1	UTSW	11	5033225	intron	probably null
R4207:Ap1b1	UTSW	11	5031637	missense	probably damaging	0.96
R4660:Ap1b1	UTSW	11	5016760	missense	probably damaging	1.00
R4710:Ap1b1	UTSW	11	5031664	missense	probably damaging	0.97
R4826:Ap1b1	UTSW	11	5018043	missense	probably benign	0.11
R4914:Ap1b1	UTSW	11	5024400	missense	possibly damaging	0.73
R5086:Ap1b1	UTSW	11	5018020	missense	possibly damaging	0.83
R5249:Ap1b1	UTSW	11	5026364	missense	probably damaging	0.97
R6014:Ap1b1	UTSW	11	5019364	missense	possibly damaging	0.55
R6268:Ap1b1	UTSW	11	5019493	missense	probably damaging	1.00
R6388:Ap1b1	UTSW	11	5026319	missense	probably damaging	1.00
R6765:Ap1b1	UTSW	11	5019427	missense	probably damaging	1.00
R6913:Ap1b1	UTSW	11	5012972	missense	possibly damaging	0.84
R7012:Ap1b1	UTSW	11	5030963	missense	probably damaging	1.00
R7107:Ap1b1	UTSW	11	5039558	missense	probably benign	0.02
X0018:Ap1b1	UTSW	11	5009581	missense	probably damaging	1.00

Posted On

2014-02-04