Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Ap1m1'

188512

Institutional Source

Beutler Lab

Gene Symbol

Ap1m1

Ensembl Gene

ENSMUSG00000003033

Gene Name

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

Synonyms

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

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72240018-72257385 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72256122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 397 (I397L)

Ref Sequence

ENSEMBL: ENSMUSP00000003117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003117] [ENSMUST00000126885]

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: I397L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033
AA Change: I397L

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

noncoding transcript
Transcript: ENSMUST00000151546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156735

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,226,185 (GRCm38)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,407,618 (GRCm38)	S260I	probably benign	Het
Aoc2	T	C	11: 101,325,192 (GRCm38)	S34P	probably benign	Het
Apba1	C	A	19: 23,936,561 (GRCm38)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm38)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,439,645 (GRCm38)	G326R	probably damaging	Het
Atm	A	C	9: 53,522,155 (GRCm38)	I265S	possibly damaging	Het
B3galt4	A	T	17: 33,951,213 (GRCm38)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,356,023 (GRCm38)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,127,900 (GRCm38)	F4L	probably benign	Het
Cela3a	T	A	4: 137,402,684 (GRCm38)		probably null	Het
Cep85	T	A	4: 134,148,728 (GRCm38)	K456*	probably null	Het
Ces1f	C	A	8: 93,275,414 (GRCm38)	A29S	probably benign	Het
Chd9	A	T	8: 90,973,135 (GRCm38)	I598F	probably damaging	Het
Cntln	T	C	4: 84,947,635 (GRCm38)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,170,668 (GRCm38)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,076,107 (GRCm38)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,773,502 (GRCm38)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,763,340 (GRCm38)		probably null	Het
Dapk1	G	T	13: 60,718,464 (GRCm38)		probably null	Het
Dnah7b	T	A	1: 46,324,712 (GRCm38)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,299,162 (GRCm38)		probably null	Het
Eny2	T	C	15: 44,432,478 (GRCm38)	W42R	probably damaging	Het
Epha3	A	G	16: 63,595,728 (GRCm38)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,578,276 (GRCm38)	Q34E	probably benign	Het
Fancm	T	C	12: 65,105,656 (GRCm38)	M962T	probably benign	Het
Gimap8	T	A	6: 48,656,411 (GRCm38)	I388N	probably benign	Het
Gpaa1	A	G	15: 76,331,453 (GRCm38)	T22A	probably benign	Het
Hoxc11	T	C	15: 102,955,156 (GRCm38)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 94,033,561 (GRCm38)	N312S	unknown	Het
Idh2	T	G	7: 80,099,158 (GRCm38)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,128,795 (GRCm38)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,410,304 (GRCm38)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,195,501 (GRCm38)		probably null	Het
Klc4	A	T	17: 46,636,770 (GRCm38)	D335E	probably damaging	Het
Klhl33	T	A	14: 50,893,077 (GRCm38)	D320V	probably benign	Het
Krt73	A	T	15: 101,802,047 (GRCm38)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,848,858 (GRCm38)	I323N	probably damaging	Het
Kynu	T	C	2: 43,679,825 (GRCm38)	L373P	probably damaging	Het
Lats1	T	C	10: 7,705,914 (GRCm38)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,685,410 (GRCm38)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,461,177 (GRCm38)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,559,753 (GRCm38)	R87L	probably damaging	Het
Meig1	T	C	2: 3,409,274 (GRCm38)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,138,429 (GRCm38)		probably benign	Het
Mtcl2	T	C	2: 157,030,530 (GRCm38)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,161,860 (GRCm38)	G556D	probably benign	Het
Naip2	T	C	13: 100,161,854 (GRCm38)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,142,358 (GRCm38)	E3D	unknown	Het
Nphs2	T	A	1: 156,320,898 (GRCm38)	D110E	probably damaging	Het
Nxn	T	A	11: 76,272,464 (GRCm38)	K244N	probably benign	Het
Oas3	A	T	5: 120,769,908 (GRCm38)	F322L	probably benign	Het
Obscn	T	A	11: 59,103,325 (GRCm38)	Y1577F	probably damaging	Het
Olfr911-ps1	T	A	9: 38,524,117 (GRCm38)	N128K	probably benign	Het
Or10ag57	G	A	2: 87,388,620 (GRCm38)	R305K	possibly damaging	Het
Or8b50	G	A	9: 38,606,948 (GRCm38)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,665,320 (GRCm38)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,848,513 (GRCm38)	M133T	probably damaging	Het
Panx1	T	C	9: 15,007,783 (GRCm38)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,473,813 (GRCm38)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,308,529 (GRCm38)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,208,805 (GRCm38)		probably null	Het
Prtn3	A	T	10: 79,880,541 (GRCm38)	T61S	probably benign	Het
Psen1	T	A	12: 83,724,620 (GRCm38)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,140,124 (GRCm38)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,762,603 (GRCm38)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,505,669 (GRCm38)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,489,721 (GRCm38)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 157,101,732 (GRCm38)	T621A	probably benign	Het
Samt3	C	A	X: 86,046,650 (GRCm38)	D49E	probably benign	Het
Sass6	T	C	3: 116,603,473 (GRCm38)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,804,412 (GRCm38)	M418I	possibly damaging	Het
Scrib	T	C	15: 76,064,567 (GRCm38)	E480G	probably damaging	Het
Sec24a	T	G	11: 51,695,189 (GRCm38)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,408,941 (GRCm38)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,474,386 (GRCm38)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,581,042 (GRCm38)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,575,177 (GRCm38)	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,351,824 (GRCm38)		probably null	Het
Tll1	A	C	8: 64,085,551 (GRCm38)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,841,105 (GRCm38)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,314,734 (GRCm38)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,773,817 (GRCm38)	K755E	unknown	Het
Trmt44	A	G	5: 35,569,977 (GRCm38)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,580,252 (GRCm38)	V184A	probably benign	Het
Zfp84	T	C	7: 29,777,400 (GRCm38)	C506R	probably damaging	Het

Other mutations in Ap1m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Ap1m1	APN	8	72,255,755 (GRCm38)	missense	possibly damaging	0.53
IGL00795:Ap1m1	APN	8	72,253,509 (GRCm38)	missense	probably damaging	1.00
IGL02165:Ap1m1	APN	8	72,249,809 (GRCm38)	missense	probably benign	0.41
R0363:Ap1m1	UTSW	8	72,256,724 (GRCm38)	unclassified	probably benign
R0363:Ap1m1	UTSW	8	72,252,894 (GRCm38)	missense	probably benign	0.22
R1295:Ap1m1	UTSW	8	72,251,875 (GRCm38)	splice site	probably null
R1784:Ap1m1	UTSW	8	72,252,849 (GRCm38)	missense	probably benign	0.01
R1934:Ap1m1	UTSW	8	72,255,793 (GRCm38)	missense	probably damaging	1.00
R4549:Ap1m1	UTSW	8	72,240,220 (GRCm38)	missense	probably damaging	1.00
R4654:Ap1m1	UTSW	8	72,252,873 (GRCm38)	missense	possibly damaging	0.94
R6003:Ap1m1	UTSW	8	72,249,167 (GRCm38)	missense	probably damaging	1.00
R7048:Ap1m1	UTSW	8	72,249,798 (GRCm38)	missense	probably damaging	1.00
R8253:Ap1m1	UTSW	8	72,252,886 (GRCm38)	missense	probably damaging	1.00
R9112:Ap1m1	UTSW	8	72,240,222 (GRCm38)	nonsense	probably null
R9134:Ap1m1	UTSW	8	72,240,069 (GRCm38)	unclassified	probably benign
R9641:Ap1m1	UTSW	8	72,249,762 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGCCTGAACCCCACACTT -3'
(R):5'- ACATGGTCACCCAGGGCACTCA -3'

Sequencing Primer
(F):5'- TTGGAGCCCCTCAAACTGTG -3'
(R):5'- GGCACTCACCCTCAGATCC -3'

Posted On

2014-05-09