Mutagenetix > Incidental Mutation

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, b2b1660Clo

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4936824-4992791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4966760 bp (GRCm39)

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]

AlphaFold

O35643

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: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Coch	T	C	12: 51,642,268 (GRCm39)	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Gpld1	T	C	13: 25,166,586 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Scrib	G	A	15: 75,937,185 (GRCm39)	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,352,010 (GRCm39)	S26G	probably null	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	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
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
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'- AAGCCACAGGTGACTCATCC -3'
(R):5'- TTCTAAGGTGGAAAGCTAGGTG -3'

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

Posted On

2015-10-08