Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Ap1b1'

539190

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

045034-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4936824-4992791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4962972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 43 (V43A)

Ref Sequence

ENSEMBL: ENSMUSP00000099134 (fasta)

Gene Model

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

AlphaFold

O35643

Predicted Effect

probably benign
Transcript: ENSMUST00000009234
AA Change: V43A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: V43A

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: V43A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: V43A

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: V43A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: V43A

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: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	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
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
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
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'- CCACCTAGTTCTCTGGGAAATTGG -3'
(R):5'- TGAGAGGCTTTCTGCTGCAC -3'

Sequencing Primer
(F):5'- TTCTCTGGGAAATTGGTGCAAGAAG -3'
(R):5'- TGCTGCACCCCCTGAATG -3'

Posted On

2018-11-06