Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Ap1m1'

158066

Institutional Source

Beutler Lab

Gene Symbol

Ap1m1

Ensembl Gene

ENSMUSG00000003033

Gene Name

adaptor-related protein complex AP-1, mu subunit 1

Synonyms

mu1A, Cltnm, Adtm1A, AP47, [m]1A

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1295 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

72993862-73011229 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 73005719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003117] [ENSMUST00000126885] [ENSMUST00000145213] [ENSMUST00000212708] [ENSMUST00000212841] [ENSMUST00000212940]

AlphaFold

P35585

PDB Structure

AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [X-RAY DIFFRACTION]
Structural basis for recruitment and activation of the AP-1 clathrin adaptor complex by Arf1 [X-RAY DIFFRACTION]
Crystal structure of the human BST2 cytoplasmic domain and the HIV-1 Vpu cytoplasmic domain bound to the clathrin adaptor protein complex 1 (AP1) core [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000003117

SMART Domains

Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	2	141	4.6e-7	PFAM
Pfam:Adap_comp_sub	157	422	2.5e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126885

SMART Domains

Protein: ENSMUSP00000120435
Gene: ENSMUSG00000003033

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	4	115	4.8e-7	PFAM
Pfam:Adap_comp_sub	131	181	6.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145213

SMART Domains

Protein: ENSMUSP00000138319
Gene: ENSMUSG00000003033

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	3	107	7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156735

Predicted Effect

probably benign
Transcript: ENSMUST00000212708

Predicted Effect

probably benign
Transcript: ENSMUST00000212841

Predicted Effect

probably benign
Transcript: ENSMUST00000212940

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E13.5. Homozygous embryos display hemorrhage of the ventricles and spinal canal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	Het

Other mutations in Ap1m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Ap1m1	APN	8	73,009,599 (GRCm39)	missense	possibly damaging	0.53
IGL00795:Ap1m1	APN	8	73,007,353 (GRCm39)	missense	probably damaging	1.00
IGL02165:Ap1m1	APN	8	73,003,653 (GRCm39)	missense	probably benign	0.41
R0363:Ap1m1	UTSW	8	73,010,568 (GRCm39)	unclassified	probably benign
R0363:Ap1m1	UTSW	8	73,006,738 (GRCm39)	missense	probably benign	0.22
R1681:Ap1m1	UTSW	8	73,009,966 (GRCm39)	missense	possibly damaging	0.95
R1784:Ap1m1	UTSW	8	73,006,693 (GRCm39)	missense	probably benign	0.01
R1934:Ap1m1	UTSW	8	73,009,637 (GRCm39)	missense	probably damaging	1.00
R4549:Ap1m1	UTSW	8	72,994,064 (GRCm39)	missense	probably damaging	1.00
R4654:Ap1m1	UTSW	8	73,006,717 (GRCm39)	missense	possibly damaging	0.94
R6003:Ap1m1	UTSW	8	73,003,011 (GRCm39)	missense	probably damaging	1.00
R7048:Ap1m1	UTSW	8	73,003,642 (GRCm39)	missense	probably damaging	1.00
R8253:Ap1m1	UTSW	8	73,006,730 (GRCm39)	missense	probably damaging	1.00
R9112:Ap1m1	UTSW	8	72,994,066 (GRCm39)	nonsense	probably null
R9134:Ap1m1	UTSW	8	72,993,913 (GRCm39)	unclassified	probably benign
R9641:Ap1m1	UTSW	8	73,003,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTAGAGGTCACACCTCACATGG -3'
(R):5'- ACCTACCCTCAATGAGAAGGGGAC -3'

Sequencing Primer
(F):5'- ACACCTCACATGGCTCCTG -3'
(R):5'- gccaccataccagccag -3'

Posted On

2014-02-18