Mutagenetix > Incidental Mutations

Incidental Mutation 'R4660:Ap1b1'

352785

Institutional Source

Beutler Lab

Gene Symbol

Ap1b1

Ensembl Gene

ENSMUSG00000009090

Gene Name

adaptor protein complex AP-1, beta 1 subunit

Synonyms

Adtb1, beta-prime adaptin

MMRRC Submission

041920-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4986824-5042791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5016760 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 145 (V145E)

Ref Sequence

ENSEMBL: ENSMUSP00000105523 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000009234
AA Change: V145E

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

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: V145E

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: V145E

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

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: V145E

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: V145E

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

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: V145E

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

Meta Mutation Damage Score

0.9097

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,142	T343A	probably damaging	Het
Angptl4	A	T	17: 33,777,275		probably benign	Het
Antxr2	A	T	5: 98,004,054		probably null	Het
Armc4	A	G	18: 7,211,609	V755A	possibly damaging	Het
Asns	G	T	6: 7,678,012	N355K	probably benign	Het
Asxl3	A	G	18: 22,516,477	T508A	probably benign	Het
B4galt7	T	A	13: 55,604,298	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777	P415S	probably benign	Het
Bbs9	G	A	9: 22,578,767	R278Q	probably benign	Het
Blzf1	C	T	1: 164,306,493		probably benign	Het
Btd	A	T	14: 31,667,803	T494S	probably benign	Het
Casp9	C	T	4: 141,813,623	T434I	probably benign	Het
Cavin2	T	C	1: 51,301,351	S396P	probably benign	Het
Ccnk	C	T	12: 108,202,316		probably benign	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Clip1	G	A	5: 123,579,374	T1284I	probably damaging	Het
Coch	T	C	12: 51,595,485	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,537	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,195,342	R457K	probably benign	Het
Dalrd3	T	C	9: 108,570,369	S129P	probably benign	Het
Ddx10	A	G	9: 53,236,398		probably null	Het
Dnah7b	A	T	1: 46,289,536	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,431,880	T10A	probably benign	Het
Eif2s2	G	A	2: 154,888,269	T36I	probably benign	Het
Fam118b	A	T	9: 35,235,255	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,203,379	I250N	probably damaging	Het
Gm11544	C	T	11: 94,845,480		noncoding transcript	Het
Gm13084	A	G	4: 143,811,865	S179P	probably benign	Het
Gm13088	T	A	4: 143,654,277	Y392F	probably benign	Het
Gm5709	C	T	3: 59,618,703		noncoding transcript	Het
Golgb1	T	A	16: 36,887,618	I107N	probably damaging	Het
Gpld1	T	C	13: 24,982,603		probably null	Het
Grik1	T	A	16: 87,923,131	T768S	probably damaging	Het
H2-T23	T	G	17: 36,030,216	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,711		probably benign	Het
Iqgap3	T	G	3: 88,120,176	L702R	probably damaging	Het
Itga8	A	G	2: 12,265,258	V139A	probably damaging	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,617,790	I353V	probably benign	Het
Kif27	T	C	13: 58,323,916	E786G	probably damaging	Het
Lingo4	T	A	3: 94,403,365	S537T	probably benign	Het
Lipo3	C	T	19: 33,620,960		probably benign	Het
Lrrc3	G	T	10: 77,894,032		probably benign	Het
Ltbp3	T	A	19: 5,748,786		probably null	Het
Lyg1	T	A	1: 37,946,861		probably benign	Het
Mcm9	T	C	10: 53,548,527	I656V	probably benign	Het
Mfsd8	T	A	3: 40,821,937	I427F	probably benign	Het
Mga	T	A	2: 119,938,623		probably benign	Het
Miga1	A	G	3: 152,287,518	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,445,712	V510A	probably benign	Het
Nccrp1	G	T	7: 28,546,335	P135T	probably damaging	Het
Neb	T	A	2: 52,255,588	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,552,668	I171N	probably damaging	Het
Olfr1419	T	C	19: 11,871,048	H56R	possibly damaging	Het
Olfr525	T	C	7: 140,323,412	F238L	possibly damaging	Het
Olfr536	A	T	7: 140,504,020	F146L	probably benign	Het
Otop1	T	G	5: 38,300,024	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,162,271	V10A	possibly damaging	Het
Pgs1	T	C	11: 118,019,677	V538A	probably damaging	Het
Ppa2	A	T	3: 133,326,684	T97S	probably damaging	Het
Prdm10	G	A	9: 31,327,328	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,680,895	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,257,298	R55C	probably damaging	Het
Ptpn9	A	T	9: 57,036,498	T105S	probably benign	Het
Rundc1	T	A	11: 101,434,004	V512E	possibly damaging	Het
Scrib	G	A	15: 76,065,336	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,750,286	S26G	probably null	Het
Sec61a2	A	G	2: 5,873,693		probably benign	Het
Sema3c	T	C	5: 17,672,513	V206A	probably damaging	Het
Sgk2	C	T	2: 162,997,843	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,861,341	T592I	probably damaging	Het
Slc5a11	T	C	7: 123,265,263	Y361H	probably damaging	Het
Smc6	T	C	12: 11,274,007	V51A	probably damaging	Het
Stab1	A	T	14: 31,154,915	N817K	possibly damaging	Het
Swt1	A	T	1: 151,407,597	D336E	probably benign	Het
Taf13	T	A	3: 108,572,977		probably benign	Het
Tmub2	T	C	11: 102,285,019		probably benign	Het
Tnf	A	G	17: 35,200,180	S209P	probably benign	Het
Try10	A	G	6: 41,357,827	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,477,788	Y183*	probably null	Het
Ttc17	A	T	2: 94,364,429	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,401,946	P305L	probably damaging	Het
Tulp3	G	A	6: 128,323,054		probably benign	Het
Usp9x	A	G	X: 13,123,508	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505	V453A	probably damaging	Het
Vmn2r103	A	T	17: 19,811,815	N617I	probably damaging	Het
Xirp1	G	T	9: 120,016,992	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,792,250	V731G	probably benign	Het
Zfp534	C	T	4: 147,674,718	G498D	probably benign	Het
Zfp639	T	C	3: 32,520,530	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,378,838	H443R	probably damaging	Het

Other mutations in Ap1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Ap1b1	APN	11	5019433	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCACAGGTGACTCATCC -3'
(R):5'- TTCTAAGGTGGAAAGCTAGGTG -3'

Sequencing Primer
(F):5'- AGGTGACTCATCCCGCCTC -3'
(R):5'- GCTAGGTGAAGGGCCAACC -3'

Posted On

2015-10-08