Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Ap1g1'

484545

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

043000-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109778554-109864204 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109838920 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 329 (Y329N)

Ref Sequence

ENSEMBL: ENSMUSP00000090844 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034171
AA Change: Y326N

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

SMART Domains

Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: Y326N

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: Y329N

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

SMART Domains

Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: Y329N

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: ENSMUST00000104361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172892

Meta Mutation Damage Score

0.8780

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	Het

Other mutations in Ap1g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ap1g1	APN	8	109832782	missense	possibly damaging	0.85
IGL01907:Ap1g1	APN	8	109843343	splice site	probably benign
IGL02248:Ap1g1	APN	8	109863433	utr 3 prime	probably benign
IGL02548:Ap1g1	APN	8	109849622	missense	probably damaging	1.00
Collapse	UTSW	8	109828336	critical splice donor site	probably null
Deflate	UTSW	8	109851132	critical splice donor site	probably null
depress	UTSW	8	109838920	missense	probably damaging	1.00
R0158:Ap1g1	UTSW	8	109855635	missense	probably benign	0.00
R0226:Ap1g1	UTSW	8	109855062	missense	probably benign	0.39
R0254:Ap1g1	UTSW	8	109803117	missense	probably benign	0.01
R0315:Ap1g1	UTSW	8	109819035	missense	probably benign
R0380:Ap1g1	UTSW	8	109803164	splice site	probably benign
R0471:Ap1g1	UTSW	8	109853643	missense	possibly damaging	0.90
R0508:Ap1g1	UTSW	8	109837732	splice site	probably benign
R0837:Ap1g1	UTSW	8	109851065	missense	probably damaging	1.00
R1025:Ap1g1	UTSW	8	109818939	missense	probably benign	0.24
R1700:Ap1g1	UTSW	8	109853612	missense	probably damaging	1.00
R1759:Ap1g1	UTSW	8	109833221	missense	probably damaging	1.00
R1809:Ap1g1	UTSW	8	109833182	splice site	probably benign
R2161:Ap1g1	UTSW	8	109844354	missense	probably damaging	1.00
R3428:Ap1g1	UTSW	8	109843448	missense	probably damaging	1.00
R3772:Ap1g1	UTSW	8	109837786	missense	probably damaging	1.00
R3897:Ap1g1	UTSW	8	109854999	missense	probably damaging	0.97
R4244:Ap1g1	UTSW	8	109833490	missense	probably benign	0.04
R4714:Ap1g1	UTSW	8	109829620	missense	probably damaging	0.98
R4736:Ap1g1	UTSW	8	109855082	missense	possibly damaging	0.93
R5173:Ap1g1	UTSW	8	109851132	critical splice donor site	probably null
R5185:Ap1g1	UTSW	8	109863326	utr 3 prime	probably benign
R5685:Ap1g1	UTSW	8	109837783	missense	probably damaging	0.99
R5824:Ap1g1	UTSW	8	109838912	splice site	probably null
R5867:Ap1g1	UTSW	8	109818982	missense	probably damaging	1.00
R6339:Ap1g1	UTSW	8	109844368	missense	possibly damaging	0.85
R6978:Ap1g1	UTSW	8	109828336	critical splice donor site	probably null
R7440:Ap1g1	UTSW	8	109802724	intron	probably null
R7532:Ap1g1	UTSW	8	109860164	missense	probably damaging	1.00
R7598:Ap1g1	UTSW	8	109849676	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTCCAAAGACTCCCCACTTG -3'
(R):5'- TAGAGGACAGACACAGCCTTATC -3'

Sequencing Primer
(F):5'- CTGCTCCTGTTGCCATAATGATG -3'
(R):5'- TCAAAAATCTGTTCCACTTACCAGG -3'

Posted On

2017-08-11