Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Ap1g1'

189660

Institutional Source

Beutler Lab

Gene Symbol

Ap1g1

Ensembl Gene

ENSMUSG00000031731

Gene Name

adaptor protein complex AP-1, gamma 1 subunit

Synonyms

D8Ertd374e, Adtg, gamma-adaptin

MMRRC Submission

039733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109778554-109864204 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109853612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 569 (Y569H)

Ref Sequence

ENSEMBL: ENSMUSP00000090844 (fasta)

Gene Model

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

AlphaFold

P22892

Predicted Effect

probably damaging
Transcript: ENSMUST00000034171
AA Change: Y566H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: Y566H

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 damaging
Transcript: ENSMUST00000093157
AA Change: Y569H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: Y569H

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: ENSMUST00000172892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173476

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,849,537 (GRCm38)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,057 (GRCm38)	I211N	probably benign	Het
Adamts16	G	A	13: 70,779,518 (GRCm38)		probably benign	Het
Alas1	C	T	9: 106,239,646 (GRCm38)	V293I	possibly damaging	Het
Apc2	A	G	10: 80,312,769 (GRCm38)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,746,354 (GRCm38)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,462,909 (GRCm38)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,249,328 (GRCm38)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,316,612 (GRCm38)	P111S	probably benign	Het
C7	T	A	15: 5,002,792 (GRCm38)	K646*	probably null	Het
Ccp110	C	T	7: 118,735,313 (GRCm38)	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,170,796 (GRCm38)	D123G	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Clip1	A	G	5: 123,630,370 (GRCm38)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,702,075 (GRCm38)	F174S	probably benign	Het
Ctnna3	T	C	10: 63,852,772 (GRCm38)	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,347,855 (GRCm38)	N76K	probably damaging	Het
Dnaaf9	G	A	2: 130,709,938 (GRCm38)	L1010F	probably damaging	Het
Dnaja3	G	A	16: 4,684,165 (GRCm38)	R11K	probably null	Het
Efcab10	A	G	12: 33,395,171 (GRCm38)	T28A	possibly damaging	Het
Esrrg	A	G	1: 188,043,653 (GRCm38)	R103G	probably damaging	Het
Exosc2	A	G	2: 31,670,806 (GRCm38)	K23E	probably benign	Het
Flot2	C	T	11: 78,049,547 (GRCm38)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,991,737 (GRCm38)	V5938A	probably benign	Het
Gclc	A	G	9: 77,776,289 (GRCm38)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,624 (GRCm38)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,232,058 (GRCm38)	M497K	probably benign	Het
Herc1	T	A	9: 66,450,678 (GRCm38)		probably null	Het
Hnrnpll	A	C	17: 80,034,105 (GRCm38)	S502A	probably benign	Het
Ipo11	G	T	13: 106,795,662 (GRCm38)	T975N	probably benign	Het
Kif17	C	T	4: 138,262,698 (GRCm38)	Q66*	probably null	Het
Lrp10	T	C	14: 54,469,752 (GRCm38)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,678 (GRCm38)	L75Q	probably damaging	Het
Med16	A	T	10: 79,899,335 (GRCm38)	Y430N	probably benign	Het
Med8	C	T	4: 118,412,734 (GRCm38)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,536,375 (GRCm38)	T253A	probably damaging	Het
Myf6	T	C	10: 107,493,359 (GRCm38)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,343 (GRCm38)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,199,993 (GRCm38)	Y48N	probably damaging	Het
Or12e10	T	C	2: 87,810,768 (GRCm38)	V316A	probably benign	Het
Or51q1c	T	A	7: 104,004,122 (GRCm38)	Y282*	probably null	Het
Or5as1	T	G	2: 87,149,779 (GRCm38)	N294T	probably damaging	Het
Pde4dip	T	C	3: 97,703,323 (GRCm38)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,434,481 (GRCm38)	L2P	probably damaging	Het
Piezo1	C	T	8: 122,487,502 (GRCm38)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,357,008 (GRCm38)	M213K	probably damaging	Het
Polr1b	A	G	2: 129,123,121 (GRCm38)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,398,429 (GRCm38)	W308R	probably damaging	Het
Prkag2	A	T	5: 24,871,541 (GRCm38)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm38)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,415,533 (GRCm38)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,057,204 (GRCm38)	K575R	probably benign	Het
Shd	G	A	17: 55,974,307 (GRCm38)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,992,376 (GRCm38)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 45,800,984 (GRCm38)	V488D	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Srsf4	C	A	4: 131,900,560 (GRCm38)		probably benign	Het
Strn	T	C	17: 78,692,402 (GRCm38)	Y135C	probably damaging	Het
Synm	T	C	7: 67,759,628 (GRCm38)	M1V	probably null	Het
Tas1r3	T	G	4: 155,861,570 (GRCm38)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,036,811 (GRCm38)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,893,792 (GRCm38)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,221,672 (GRCm38)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,832,998 (GRCm38)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,371,743 (GRCm38)		probably benign	Het
Ubash3a	A	G	17: 31,215,044 (GRCm38)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,252,286 (GRCm38)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,963,524 (GRCm38)	I348M	probably damaging	Het
Usp21	C	A	1: 171,283,722 (GRCm38)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,842,965 (GRCm38)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,302,741 (GRCm38)	E93G	unknown	Het

Other mutations in Ap1g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ap1g1	APN	8	109,832,782 (GRCm38)	missense	possibly damaging	0.85
IGL01907:Ap1g1	APN	8	109,843,343 (GRCm38)	splice site	probably benign
IGL02248:Ap1g1	APN	8	109,863,433 (GRCm38)	utr 3 prime	probably benign
IGL02548:Ap1g1	APN	8	109,849,622 (GRCm38)	missense	probably damaging	1.00
Collapse	UTSW	8	109,828,336 (GRCm38)	critical splice donor site	probably null
Deflate	UTSW	8	109,851,132 (GRCm38)	critical splice donor site	probably null
depress	UTSW	8	109,838,920 (GRCm38)	missense	probably damaging	1.00
R0158:Ap1g1	UTSW	8	109,855,635 (GRCm38)	missense	probably benign	0.00
R0226:Ap1g1	UTSW	8	109,855,062 (GRCm38)	missense	probably benign	0.39
R0254:Ap1g1	UTSW	8	109,803,117 (GRCm38)	missense	probably benign	0.01
R0315:Ap1g1	UTSW	8	109,819,035 (GRCm38)	missense	probably benign
R0380:Ap1g1	UTSW	8	109,803,164 (GRCm38)	splice site	probably benign
R0471:Ap1g1	UTSW	8	109,853,643 (GRCm38)	missense	possibly damaging	0.90
R0508:Ap1g1	UTSW	8	109,837,732 (GRCm38)	splice site	probably benign
R0837:Ap1g1	UTSW	8	109,851,065 (GRCm38)	missense	probably damaging	1.00
R1025:Ap1g1	UTSW	8	109,818,939 (GRCm38)	missense	probably benign	0.24
R1759:Ap1g1	UTSW	8	109,833,221 (GRCm38)	missense	probably damaging	1.00
R1809:Ap1g1	UTSW	8	109,833,182 (GRCm38)	splice site	probably benign
R2161:Ap1g1	UTSW	8	109,844,354 (GRCm38)	missense	probably damaging	1.00
R3428:Ap1g1	UTSW	8	109,843,448 (GRCm38)	missense	probably damaging	1.00
R3772:Ap1g1	UTSW	8	109,837,786 (GRCm38)	missense	probably damaging	1.00
R3897:Ap1g1	UTSW	8	109,854,999 (GRCm38)	missense	probably damaging	0.97
R4244:Ap1g1	UTSW	8	109,833,490 (GRCm38)	missense	probably benign	0.04
R4714:Ap1g1	UTSW	8	109,829,620 (GRCm38)	missense	probably damaging	0.98
R4736:Ap1g1	UTSW	8	109,855,082 (GRCm38)	missense	possibly damaging	0.93
R5173:Ap1g1	UTSW	8	109,851,132 (GRCm38)	critical splice donor site	probably null
R5185:Ap1g1	UTSW	8	109,863,326 (GRCm38)	utr 3 prime	probably benign
R5435:Ap1g1	UTSW	8	109,838,920 (GRCm38)	missense	probably damaging	1.00
R5685:Ap1g1	UTSW	8	109,837,783 (GRCm38)	missense	probably damaging	0.99
R5824:Ap1g1	UTSW	8	109,838,912 (GRCm38)	splice site	probably null
R5867:Ap1g1	UTSW	8	109,818,982 (GRCm38)	missense	probably damaging	1.00
R6339:Ap1g1	UTSW	8	109,844,368 (GRCm38)	missense	possibly damaging	0.85
R6978:Ap1g1	UTSW	8	109,828,336 (GRCm38)	critical splice donor site	probably null
R7440:Ap1g1	UTSW	8	109,802,724 (GRCm38)	splice site	probably null
R7532:Ap1g1	UTSW	8	109,860,164 (GRCm38)	missense	probably damaging	1.00
R7598:Ap1g1	UTSW	8	109,849,676 (GRCm38)	missense	probably benign	0.01
R7978:Ap1g1	UTSW	8	109,837,767 (GRCm38)	nonsense	probably null
R8022:Ap1g1	UTSW	8	109,832,735 (GRCm38)	missense	possibly damaging	0.90
R8743:Ap1g1	UTSW	8	109,837,791 (GRCm38)	missense	probably damaging	0.99
R8947:Ap1g1	UTSW	8	109,863,332 (GRCm38)	utr 3 prime	probably benign
R9002:Ap1g1	UTSW	8	109,855,106 (GRCm38)	missense	probably benign
R9225:Ap1g1	UTSW	8	109,858,877 (GRCm38)	missense	probably benign	0.27
R9512:Ap1g1	UTSW	8	109,803,055 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACCAGTAAGCTGTGTTCCCACACC -3'
(R):5'- ACATGGAGAAAAGCGGCCACTC -3'

Sequencing Primer
(F):5'- GTGTTCCCACACCTCCAGTAAG -3'
(R):5'- CGGCCACTCAGTGAGAAG -3'

Posted On

2014-05-14