Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Ap1g1'

34571

Institutional Source

Beutler Lab

Gene Symbol

Ap1g1

Ensembl Gene

ENSMUSG00000031731

Gene Name

adaptor protein complex AP-1, gamma 1 subunit

Synonyms

D8Ertd374e, gamma-adaptin, Adtg

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110505215-110590842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110529749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 56 (M56I)

Ref Sequence

ENSEMBL: ENSMUSP00000090844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000093157]

AlphaFold

P22892

Predicted Effect

probably benign
Transcript: ENSMUST00000034171
AA Change: M56I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: M56I

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Adaptin_N	23	574	7.8e-157	PFAM
low complexity region	626	636	N/A	INTRINSIC
low complexity region	653	667	N/A	INTRINSIC
low complexity region	668	676	N/A	INTRINSIC
Alpha_adaptinC2	699	817	6.37e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093157
AA Change: M56I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: M56I

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Adaptin_N	23	577	1.1e-155	PFAM
low complexity region	629	639	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC
low complexity region	671	679	N/A	INTRINSIC
Alpha_adaptinC2	702	820	6.37e-46	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173200

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly damaging	Het

Other mutations in Ap1g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ap1g1	APN	8	110,559,414 (GRCm39)	missense	possibly damaging	0.85
IGL01907:Ap1g1	APN	8	110,569,975 (GRCm39)	splice site	probably benign
IGL02248:Ap1g1	APN	8	110,590,065 (GRCm39)	utr 3 prime	probably benign
IGL02548:Ap1g1	APN	8	110,576,254 (GRCm39)	missense	probably damaging	1.00
Collapse	UTSW	8	110,554,968 (GRCm39)	critical splice donor site	probably null
Deflate	UTSW	8	110,577,764 (GRCm39)	critical splice donor site	probably null
depress	UTSW	8	110,565,552 (GRCm39)	missense	probably damaging	1.00
R0158:Ap1g1	UTSW	8	110,582,267 (GRCm39)	missense	probably benign	0.00
R0226:Ap1g1	UTSW	8	110,581,694 (GRCm39)	missense	probably benign	0.39
R0315:Ap1g1	UTSW	8	110,545,667 (GRCm39)	missense	probably benign
R0380:Ap1g1	UTSW	8	110,529,796 (GRCm39)	splice site	probably benign
R0471:Ap1g1	UTSW	8	110,580,275 (GRCm39)	missense	possibly damaging	0.90
R0508:Ap1g1	UTSW	8	110,564,364 (GRCm39)	splice site	probably benign
R0837:Ap1g1	UTSW	8	110,577,697 (GRCm39)	missense	probably damaging	1.00
R1025:Ap1g1	UTSW	8	110,545,571 (GRCm39)	missense	probably benign	0.24
R1700:Ap1g1	UTSW	8	110,580,244 (GRCm39)	missense	probably damaging	1.00
R1759:Ap1g1	UTSW	8	110,559,853 (GRCm39)	missense	probably damaging	1.00
R1809:Ap1g1	UTSW	8	110,559,814 (GRCm39)	splice site	probably benign
R2161:Ap1g1	UTSW	8	110,570,986 (GRCm39)	missense	probably damaging	1.00
R3428:Ap1g1	UTSW	8	110,570,080 (GRCm39)	missense	probably damaging	1.00
R3772:Ap1g1	UTSW	8	110,564,418 (GRCm39)	missense	probably damaging	1.00
R3897:Ap1g1	UTSW	8	110,581,631 (GRCm39)	missense	probably damaging	0.97
R4244:Ap1g1	UTSW	8	110,560,122 (GRCm39)	missense	probably benign	0.04
R4714:Ap1g1	UTSW	8	110,556,252 (GRCm39)	missense	probably damaging	0.98
R4736:Ap1g1	UTSW	8	110,581,714 (GRCm39)	missense	possibly damaging	0.93
R5173:Ap1g1	UTSW	8	110,577,764 (GRCm39)	critical splice donor site	probably null
R5185:Ap1g1	UTSW	8	110,589,958 (GRCm39)	utr 3 prime	probably benign
R5435:Ap1g1	UTSW	8	110,565,552 (GRCm39)	missense	probably damaging	1.00
R5685:Ap1g1	UTSW	8	110,564,415 (GRCm39)	missense	probably damaging	0.99
R5824:Ap1g1	UTSW	8	110,565,544 (GRCm39)	splice site	probably null
R5867:Ap1g1	UTSW	8	110,545,614 (GRCm39)	missense	probably damaging	1.00
R6339:Ap1g1	UTSW	8	110,571,000 (GRCm39)	missense	possibly damaging	0.85
R6978:Ap1g1	UTSW	8	110,554,968 (GRCm39)	critical splice donor site	probably null
R7440:Ap1g1	UTSW	8	110,529,356 (GRCm39)	splice site	probably null
R7532:Ap1g1	UTSW	8	110,586,796 (GRCm39)	missense	probably damaging	1.00
R7598:Ap1g1	UTSW	8	110,576,308 (GRCm39)	missense	probably benign	0.01
R7978:Ap1g1	UTSW	8	110,564,399 (GRCm39)	nonsense	probably null
R8022:Ap1g1	UTSW	8	110,559,367 (GRCm39)	missense	possibly damaging	0.90
R8743:Ap1g1	UTSW	8	110,564,423 (GRCm39)	missense	probably damaging	0.99
R8947:Ap1g1	UTSW	8	110,589,964 (GRCm39)	utr 3 prime	probably benign
R9002:Ap1g1	UTSW	8	110,581,738 (GRCm39)	missense	probably benign
R9225:Ap1g1	UTSW	8	110,585,509 (GRCm39)	missense	probably benign	0.27
R9512:Ap1g1	UTSW	8	110,529,687 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCTATATCCAGAGGATGCCAGCCC -3'
(R):5'- ATGTGTGTCAGGAAGAGAATCCGC -3'

Sequencing Primer
(F):5'- CCCATCAGATTGCGGGAG -3'
(R):5'- GACAGTTTTCCATATATCATGCCCAG -3'

Posted On

2013-05-09