Mutagenetix > Incidental Mutation

Incidental Mutation 'R4710:Ap1b1'

353219

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, b2b1660Clo

MMRRC Submission

042019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R4710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4936824-4992791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4981664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 524 (Y524C)

Ref Sequence

ENSEMBL: ENSMUSP00000009234 (fasta)

Gene Model

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

AlphaFold

O35643

Predicted Effect

probably damaging
Transcript: ENSMUST00000009234
AA Change: Y524C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: Y524C

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

possibly damaging
Transcript: ENSMUST00000101613
AA Change: Y497C

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: Y497C

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

possibly damaging
Transcript: ENSMUST00000109897
AA Change: Y497C

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: Y497C

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

Meta Mutation Damage Score

0.8552

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,618,262 (GRCm39)	Q185L	probably benign	Het
Acaca	T	A	11: 84,283,163 (GRCm39)	I2243N	possibly damaging	Het
Adamts18	A	G	8: 114,433,558 (GRCm39)	S1059P	probably damaging	Het
Aox4	A	T	1: 58,294,797 (GRCm39)	K1002M	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cntn2	T	A	1: 132,455,963 (GRCm39)	H185L	possibly damaging	Het
Col4a2	C	A	8: 11,459,462 (GRCm39)	P299Q	probably benign	Het
Commd3	A	G	2: 18,679,093 (GRCm39)	N106S	probably benign	Het
Coro7	T	G	16: 4,452,797 (GRCm39)		probably benign	Het
Ctf1	C	A	7: 127,316,252 (GRCm39)	P66Q	probably damaging	Het
Dclre1c	T	C	2: 3,441,898 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,529,493 (GRCm39)	L317Q	probably damaging	Het
Dnah2	A	G	11: 69,368,903 (GRCm39)	L1667P	probably damaging	Het
Dpp4	A	G	2: 62,190,659 (GRCm39)	I399T	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Erg	T	C	16: 95,190,893 (GRCm39)	D90G	possibly damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Gimd1	T	C	3: 132,340,609 (GRCm39)	S42P	possibly damaging	Het
Gm5526	T	A	1: 45,896,579 (GRCm39)		noncoding transcript	Het
Gnl2	T	A	4: 124,947,252 (GRCm39)	S625T	probably benign	Het
H2-Q2	A	G	17: 35,562,278 (GRCm39)	E175G	probably damaging	Het
Hmgxb3	G	A	18: 61,270,547 (GRCm39)	P926S	probably damaging	Het
Ifi213	G	A	1: 173,394,738 (GRCm39)		probably benign	Het
Inhba	T	C	13: 16,201,068 (GRCm39)	V210A	probably benign	Het
Kansl1l	G	A	1: 66,840,655 (GRCm39)	A215V	possibly damaging	Het
Kcnk1	T	A	8: 126,756,267 (GRCm39)	V263D	probably damaging	Het
Kcnk9	A	G	15: 72,384,824 (GRCm39)	I118T	probably damaging	Het
Lamb1	A	G	12: 31,332,582 (GRCm39)	I283V	probably benign	Het
Larp7-ps	T	C	4: 92,079,212 (GRCm39)	E203G	possibly damaging	Het
Lias	A	G	5: 65,555,070 (GRCm39)	D88G	probably benign	Het
Lrrk2	G	A	15: 91,584,130 (GRCm39)	V297M	possibly damaging	Het
Maea	C	T	5: 33,526,034 (GRCm39)	R237C	probably benign	Het
Mdfi	T	A	17: 48,135,511 (GRCm39)	N73I	probably damaging	Het
Mphosph6	T	A	8: 118,528,641 (GRCm39)	M1L	probably damaging	Het
Mta2	T	A	19: 8,926,517 (GRCm39)	I486N	probably damaging	Het
Nbr1	C	T	11: 101,466,101 (GRCm39)	P769L	probably damaging	Het
Ncam2	T	A	16: 81,262,594 (GRCm39)		probably null	Het
Ndel1	A	G	11: 68,736,163 (GRCm39)	Y26H	probably damaging	Het
Neb	T	C	2: 52,150,610 (GRCm39)	R2473G	probably benign	Het
Or10ag53	T	A	2: 87,082,384 (GRCm39)	D34E	possibly damaging	Het
Or2t46	A	T	11: 58,472,548 (GRCm39)	I293F	probably damaging	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or5h19	T	A	16: 58,856,638 (GRCm39)	H154L	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Prkn	A	C	17: 12,073,720 (GRCm39)	Q346P	possibly damaging	Het
Prrc2b	T	A	2: 32,083,869 (GRCm39)	S236R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Rnf112	T	C	11: 61,340,657 (GRCm39)	D491G	probably damaging	Het
Rnf220	C	T	4: 117,146,411 (GRCm39)		probably benign	Het
Ryr3	G	A	2: 112,596,646 (GRCm39)	L2483F	probably damaging	Het
Sema6a	T	C	18: 47,403,750 (GRCm39)	N624S	probably benign	Het
Sgms1	C	T	19: 32,137,537 (GRCm39)	V10M	probably damaging	Het
Slc23a2	T	C	2: 131,898,629 (GRCm39)	N636S	probably benign	Het
Slc25a48	C	T	13: 56,611,379 (GRCm39)	T162I	probably damaging	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Snrnp200	T	C	2: 127,068,053 (GRCm39)	L850P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox18	A	G	2: 181,312,688 (GRCm39)	Y148H	probably damaging	Het
Stk-ps1	A	G	17: 36,708,562 (GRCm39)		noncoding transcript	Het
Tas2r104	T	A	6: 131,662,407 (GRCm39)	T101S	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn2r4	A	G	3: 64,317,201 (GRCm39)		probably null	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfat	A	T	15: 68,052,131 (GRCm39)	D554E	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	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
IGL02505:Ap1b1	APN	11	4,981,700 (GRCm39)	missense	probably benign	0.11
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGTTTGAAAGCCAACTTTTG -3'
(R):5'- TGGCAGGCTCTTATGTACCAC -3'

Sequencing Primer
(F):5'- CTGAGTTCAAAGTCAGTCTGGTCTAC -3'
(R):5'- ACCCTCCACAAAGGCGTTGG -3'

Posted On

2015-10-21