Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Ap1b1'

551259

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

045199-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4986824-5042791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5039558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 824 (T824A)

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: T824A

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

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: T824A

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: T804A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: T804A

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: T797A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: T797A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,183	R608*	probably null	Het
4922502D21Rik	A	G	6: 129,322,952	C188R	probably damaging	Het
Abca8b	A	G	11: 109,976,473	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,578,142	E588G	probably benign	Het
Ahcy	G	A	2: 155,068,973	A25V	probably damaging	Het
Ank2	A	C	3: 127,003,982	L710R	probably damaging	Het
Arap2	T	A	5: 62,606,208	H1531L	probably damaging	Het
B3gnt7	T	C	1: 86,305,773	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,226,570	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,670,170	H301R	probably benign	Het
Casc3	T	A	11: 98,827,587	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,630,061	L63Q	probably damaging	Het
Cep250	A	G	2: 155,995,394	T2319A	probably benign	Het
Chd1	T	C	17: 15,761,366	S1356P	probably damaging	Het
Chd8	A	G	14: 52,212,672	S1542P	probably benign	Het
Cntnap4	A	G	8: 112,815,488	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,702,489	R90C	possibly damaging	Het
Defa21	G	A	8: 21,025,708	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,894,399	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dtx4	A	T	19: 12,473,260	C529*	probably null	Het
Entpd3	A	G	9: 120,560,599	Y317C	probably damaging	Het
Erp29	T	A	5: 121,445,318	I182F	possibly damaging	Het
Fam161a	A	G	11: 23,023,452	R445G	possibly damaging	Het
Fam214b	A	T	4: 43,036,434	V99E	probably benign	Het
Fam76a	T	A	4: 132,903,921	M238L	possibly damaging	Het
Fn1	T	C	1: 71,627,249	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,530,182		probably null	Het
Hspg2	T	C	4: 137,510,652	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,434,970	S59P	probably damaging	Het
Itpkc	C	A	7: 27,228,277	A71S	probably benign	Het
Kcnk10	G	A	12: 98,518,743	R45*	probably null	Het
Krcc1	A	G	6: 71,284,214	S77G	probably benign	Het
Lelp1	G	A	3: 92,135,514	T76I	unknown	Het
Lifr	A	T	15: 7,178,940	I600F	possibly damaging	Het
Lrrk1	T	A	7: 66,287,443	D987V	possibly damaging	Het
Mfsd7a	T	A	5: 108,448,715		probably null	Het
Muc16	C	T	9: 18,637,298	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo9a	A	G	9: 59,870,815	I1285V	probably benign	Het
Ndel1	T	C	11: 68,822,648	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,715,217	V449A	probably damaging	Het
Olfr1386	T	A	11: 49,470,434	Y94*	probably null	Het
Olfr1495	A	G	19: 13,769,161	E273G	probably benign	Het
Olfr195	A	C	16: 59,148,916	D22A	probably benign	Het
Olfr458	T	C	6: 42,460,554	N155S	possibly damaging	Het
Olfr639	A	T	7: 104,012,282	L140Q	probably benign	Het
Osbpl1a	G	A	18: 12,841,253	R459*	probably null	Het
Pabpc1l	A	C	2: 164,042,479	T379P	probably damaging	Het
Pde2a	A	T	7: 101,421,968	Q15L	probably benign	Het
Pdk1	A	G	2: 71,895,741	N331S	probably benign	Het
Pfdn1	A	T	18: 36,451,466		probably null	Het
Pnliprp1	T	A	19: 58,729,150	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,659,093	D242E	possibly damaging	Het
Prmt9	T	A	8: 77,568,251	I408N	possibly damaging	Het
Psme4	G	A	11: 30,848,105	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,128,650	D393V	probably damaging	Het
Rab5b	A	G	10: 128,683,193		probably null	Het
Rap1gap2	G	A	11: 74,393,119	R618C	probably damaging	Het
Rin1	A	G	19: 5,050,773		probably benign	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sdk1	A	G	5: 142,081,716	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,838,777	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,656,777	I189N	probably damaging	Het
Spsb2	A	T	6: 124,810,281	Q226L	probably benign	Het
Stab2	T	C	10: 86,905,592	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,070,150	R500H	probably benign	Het
Syne1	A	G	10: 5,132,078	Y849H	probably damaging	Het
Tbck	T	A	3: 132,722,331	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,624,204	F1984L	probably benign	Het
Tnxb	T	A	17: 34,671,340	V219E	unknown	Het
Tpst1	T	A	5: 130,114,503	V294D	probably damaging	Het
Treml1	A	G	17: 48,360,219	Q44R	probably damaging	Het
Trrap	G	A	5: 144,797,135	A933T	probably benign	Het
Vars2	A	G	17: 35,658,250	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,113,630	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,928,394	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,090,729	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,638,917	T179A	probably damaging	Het
Zmym2	A	G	14: 56,902,712	T3A	probably benign	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	splice site	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
R8291:Ap1b1	UTSW	11	5018027	missense	probably damaging	1.00
R9075:Ap1b1	UTSW	11	5025597	missense	possibly damaging	0.93
R9090:Ap1b1	UTSW	11	5023174	missense	probably damaging	1.00
R9271:Ap1b1	UTSW	11	5023174	missense	probably damaging	1.00
R9297:Ap1b1	UTSW	11	5040157	missense	probably benign	0.05
R9318:Ap1b1	UTSW	11	5040157	missense	probably benign	0.05
R9560:Ap1b1	UTSW	11	5026363	missense	probably benign	0.38
X0018:Ap1b1	UTSW	11	5009581	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGAGAGAACTGTGTTC -3'
(R):5'- ACCTTCAAGCCAGAAATGGG -3'

Sequencing Primer
(F):5'- TCTTGGCTACAGGTGGAACC -3'
(R):5'- CCAGAAATGGGGCCCCC -3'

Posted On

2019-05-15