Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Ap1m1'

351551

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

041914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72993862-73011229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73006717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 238 (F238L)

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

possibly damaging
Transcript: ENSMUST00000003117
AA Change: F238L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033
AA Change: F238L

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

0.9231

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,193,819 (GRCm39)	C398S	probably damaging	Het
Adamts10	A	G	17: 33,756,304 (GRCm39)	K316E	possibly damaging	Het
Aph1a	T	A	3: 95,803,088 (GRCm39)	D180E	probably benign	Het
Atp9b	A	G	18: 80,935,093 (GRCm39)	F201L	probably benign	Het
Btbd9	A	C	17: 30,704,561 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,975,910 (GRCm39)	T768A	probably benign	Het
Casq1	C	T	1: 172,037,965 (GRCm39)		probably benign	Het
Cimap2	C	A	4: 106,467,612 (GRCm39)	M341I	probably benign	Het
Cltc	A	T	11: 86,617,196 (GRCm39)	M351K	probably benign	Het
Cnp	A	G	11: 100,469,877 (GRCm39)	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,845,544 (GRCm39)	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279 (GRCm39)	S117P	probably benign	Het
Cyp2b13	T	C	7: 25,761,072 (GRCm39)	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dclk2	T	C	3: 86,743,683 (GRCm39)	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,458,742 (GRCm39)	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dennd5b	T	C	6: 148,908,335 (GRCm39)	N986S	probably damaging	Het
Dipk1a	T	C	5: 108,057,982 (GRCm39)		probably null	Het
Dusp9	G	A	X: 72,684,378 (GRCm39)	R182Q	probably benign	Het
Ecpas	A	T	4: 58,834,523 (GRCm39)	I785N	possibly damaging	Het
Edil3	A	G	13: 89,437,589 (GRCm39)	K397E	probably damaging	Het
Ehd1	T	C	19: 6,326,994 (GRCm39)		probably benign	Het
Fam13a	A	T	6: 58,964,152 (GRCm39)	H93Q	probably benign	Het
Farp1	T	C	14: 121,513,716 (GRCm39)	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,922,771 (GRCm39)	I216F	probably damaging	Het
Gadl1	G	A	9: 115,770,408 (GRCm39)	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,618,436 (GRCm39)	V122A	probably damaging	Het
Hdac10	C	T	15: 89,011,036 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,130 (GRCm39)	S502G	possibly damaging	Het
Hr	C	A	14: 70,801,013 (GRCm39)	A695E	probably damaging	Het
Ift80	A	T	3: 68,825,870 (GRCm39)	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,970,692 (GRCm39)		probably benign	Het
Iqch	T	G	9: 63,432,195 (GRCm39)	Y400S	probably damaging	Het
Jag2	C	T	12: 112,877,266 (GRCm39)	D702N	probably benign	Het
Kiss1r	T	A	10: 79,757,624 (GRCm39)	L326Q	probably damaging	Het
Lrrc42	A	T	4: 107,104,746 (GRCm39)	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,026,880 (GRCm39)	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,649,884 (GRCm39)	S1674P	probably damaging	Het
Mctp2	A	G	7: 71,739,942 (GRCm39)	L816P	probably damaging	Het
Mipol1	A	T	12: 57,352,918 (GRCm39)	T86S	probably benign	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849 (GRCm39)	V302A	probably benign	Het
Msc	A	T	1: 14,826,053 (GRCm39)		probably null	Het
Msmo1	C	A	8: 65,180,888 (GRCm39)	V9L	probably benign	Het
Nbeal2	G	A	9: 110,461,072 (GRCm39)	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,187,850 (GRCm39)	V12I	possibly damaging	Het
Npas3	T	C	12: 54,108,915 (GRCm39)		probably null	Het
Nr2e3	A	G	9: 59,856,355 (GRCm39)		probably benign	Het
Oca2	C	T	7: 55,978,560 (GRCm39)	A576V	probably benign	Het
Or5b21	T	A	19: 12,839,596 (GRCm39)	C152*	probably null	Het
Or6d12	T	C	6: 116,493,409 (GRCm39)	Y224H	probably damaging	Het
Or6z7	T	C	7: 6,484,045 (GRCm39)	T37A	probably benign	Het
Parp6	A	G	9: 59,548,383 (GRCm39)		probably null	Het
Pate13	T	A	9: 35,820,287 (GRCm39)	C4S	probably damaging	Het
Phlpp1	A	T	1: 106,267,231 (GRCm39)	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,101,544 (GRCm39)		probably null	Het
Pik3ap1	A	G	19: 41,316,348 (GRCm39)	S305P	probably damaging	Het
Plcg2	G	A	8: 118,231,054 (GRCm39)	M45I	probably benign	Het
Ppm1m	A	T	9: 106,073,601 (GRCm39)	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,866,227 (GRCm39)	M341R	probably benign	Het
Prdx3	A	G	19: 60,853,674 (GRCm39)	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,400,496 (GRCm39)	V773A	possibly damaging	Het
Raly	T	C	2: 154,699,376 (GRCm39)	V60A	probably damaging	Het
Reps1	A	G	10: 17,990,148 (GRCm39)	D420G	probably damaging	Het
Rev1	A	T	1: 38,118,337 (GRCm39)		probably benign	Het
Rgs2	T	G	1: 143,878,650 (GRCm39)		probably benign	Het
Rlf	G	T	4: 121,007,798 (GRCm39)	T394K	probably benign	Het
Rptn	A	T	3: 93,304,792 (GRCm39)	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,414,494 (GRCm39)	M402K	probably benign	Het
Skic2	A	G	17: 35,068,922 (GRCm39)	C26R	probably damaging	Het
Slx9	T	C	10: 77,325,860 (GRCm39)	M170V	possibly damaging	Het
Smpd4	A	G	16: 17,459,992 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,063,813 (GRCm39)	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,684,326 (GRCm39)	F64I	probably benign	Het
Tex21	A	C	12: 76,263,860 (GRCm39)	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954 (GRCm39)	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,611,797 (GRCm39)	V145A	probably benign	Het
Ttn	C	T	2: 76,616,936 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,269,670 (GRCm39)	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,634,083 (GRCm39)	S175P	probably damaging	Het
Vcl	A	G	14: 21,035,820 (GRCm39)		probably null	Het
Vegfa	A	T	17: 46,336,176 (GRCm39)		probably benign	Het
Vmn2r68	G	A	7: 84,882,769 (GRCm39)	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ybx3	G	T	6: 131,347,290 (GRCm39)	R282S	probably damaging	Het
Zfp566	T	C	7: 29,777,194 (GRCm39)	H329R	probably damaging	Het
Zfp786	T	C	6: 47,797,868 (GRCm39)	I357V	probably benign	Het
Zfr2	C	A	10: 81,087,083 (GRCm39)		probably null	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
R1295:Ap1m1	UTSW	8	73,005,719 (GRCm39)	splice site	probably null
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
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'- ACTGGCATGGCATAAGCAGG -3'
(R):5'- TCAAGGTTTCAGCCCACATAG -3'

Sequencing Primer
(F):5'- CCCAGGACTCCATGCTAGCATTAG -3'
(R):5'- CCACATAGGGAGCTGGGAG -3'

Posted On

2015-10-08