Mutagenetix > Incidental Mutation

Incidental Mutation 'R5585:Ap4m1'

438654

Institutional Source

Beutler Lab

Gene Symbol

Ap4m1

Ensembl Gene

ENSMUSG00000019518

Gene Name

adaptor-related protein complex AP-4, mu 1

Synonyms

4930443L05Rik

MMRRC Submission

043139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5585 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138170283-138178691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138170502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 17 (Y17C)

Ref Sequence

ENSEMBL: ENSMUSP00000123770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000139983] [ENSMUST00000143241] [ENSMUST00000151318] [ENSMUST00000148879] [ENSMUST00000153867] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000155902]

AlphaFold

Q9JKC7

Predicted Effect

probably benign
Transcript: ENSMUST00000000505

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	1e-41	BLAST
MCM	145	642	N/A	SMART
AAA	373	526	2.9e-4	SMART
Blast:MCM	658	719	1e-32	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000019662
AA Change: Y17C

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

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: Y17C

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	142	2e-49	SMART
Pfam:Adap_comp_sub	173	449	2.5e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139223

Predicted Effect

probably benign
Transcript: ENSMUST00000139983

SMART Domains

Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	5.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142687

Predicted Effect

probably damaging
Transcript: ENSMUST00000143241
AA Change: Y17C

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

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518
AA Change: Y17C

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	86	2e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151318
AA Change: Y17C

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

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: Y17C

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	47	153	3.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155745

Predicted Effect

probably benign
Transcript: ENSMUST00000148879

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	6e-44	BLAST
MCM	145	389	1.77e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153867

SMART Domains

Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	9.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147920

Predicted Effect

probably benign
Transcript: ENSMUST00000148094

SMART Domains

Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	1	25	4e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155902

SMART Domains

Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	5.3e-10	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	A	T	17: 46,044,670 (GRCm39)	I17N	unknown	Het
4932414N04Rik	A	G	2: 68,571,770 (GRCm39)	T549A	probably benign	Het
9330159F19Rik	C	A	10: 29,101,271 (GRCm39)	S548Y	possibly damaging	Het
Aanat	A	G	11: 116,487,799 (GRCm39)	Y166C	probably damaging	Het
Adra2a	G	T	19: 54,034,670 (GRCm39)	A9S	probably benign	Het
Arhgap33	T	G	7: 30,223,260 (GRCm39)	M891L	probably benign	Het
Calm5	A	G	13: 3,904,372 (GRCm39)	D22G	possibly damaging	Het
Ccdc15	C	T	9: 37,188,699 (GRCm39)	R795H	probably benign	Het
Cngb1	T	A	8: 95,989,767 (GRCm39)	I323F	probably damaging	Het
Cyp26b1	A	G	6: 84,554,171 (GRCm39)	F74L	probably damaging	Het
Dpagt1	G	A	9: 44,240,439 (GRCm39)		probably null	Het
Ercc8	C	T	13: 108,312,123 (GRCm39)	P196S	probably damaging	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Hfm1	G	A	5: 107,059,305 (GRCm39)	S239L	probably benign	Het
Hgf	A	G	5: 16,769,799 (GRCm39)	D91G	possibly damaging	Het
Lefty2	T	A	1: 180,720,828 (GRCm39)	V27D	possibly damaging	Het
Lrp2	G	A	2: 69,294,968 (GRCm39)	T3450I	possibly damaging	Het
Lrrc38	A	G	4: 143,076,961 (GRCm39)	I75V	probably damaging	Het
Ncor2	C	A	5: 125,144,975 (GRCm39)	E556*	probably null	Het
Nedd9	A	G	13: 41,469,950 (GRCm39)	L401P	probably damaging	Het
Nfatc4	T	C	14: 56,064,212 (GRCm39)	L163P	probably damaging	Het
Nln	T	C	13: 104,161,569 (GRCm39)	N667S	possibly damaging	Het
Or5w20	A	G	2: 87,727,019 (GRCm39)	T159A	possibly damaging	Het
Pnpla8	T	C	12: 44,329,847 (GRCm39)	I133T	probably benign	Het
Psma1	C	T	7: 113,873,302 (GRCm39)	G12S	probably damaging	Het
Psmd3	G	A	11: 98,573,707 (GRCm39)	G51D	possibly damaging	Het
Ptprb	A	G	10: 116,216,759 (GRCm39)	Q1959R	probably damaging	Het
Rhbdf1	A	G	11: 32,160,222 (GRCm39)		probably null	Het
Rnf167	T	C	11: 70,540,308 (GRCm39)	V110A	probably damaging	Het
Rrp9	C	T	9: 106,362,525 (GRCm39)	S470F	probably benign	Het
Rtn3	G	A	19: 7,435,560 (GRCm39)	P125L	probably benign	Het
Scube1	C	T	15: 83,561,124 (GRCm39)	C156Y	probably damaging	Het
Tgm2	A	T	2: 157,973,375 (GRCm39)	Y245*	probably null	Het
Timeless	T	C	10: 128,076,112 (GRCm39)	I68T	probably damaging	Het
Ttn	A	G	2: 76,645,054 (GRCm39)	S12934P	probably damaging	Het
Vwa5b2	T	A	16: 20,413,428 (GRCm39)	Y214*	probably null	Het
Yars2	T	A	16: 16,122,484 (GRCm39)	N7K	probably damaging	Het
Zfp142	G	A	1: 74,617,404 (GRCm39)	Q150*	probably null	Het
Zfp995	C	T	17: 22,106,339 (GRCm39)		probably benign	Het

Other mutations in Ap4m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01918:Ap4m1	APN	5	138,171,106 (GRCm39)	missense	probably damaging	0.98
IGL03087:Ap4m1	APN	5	138,173,066 (GRCm39)	missense	probably benign	0.01
R0227:Ap4m1	UTSW	5	138,174,538 (GRCm39)	unclassified	probably benign
R0394:Ap4m1	UTSW	5	138,170,465 (GRCm39)	missense	probably benign	0.32
R0639:Ap4m1	UTSW	5	138,174,501 (GRCm39)	missense	probably benign	0.01
R4226:Ap4m1	UTSW	5	138,171,079 (GRCm39)	nonsense	probably null
R4357:Ap4m1	UTSW	5	138,171,311 (GRCm39)	missense	probably damaging	1.00
R5544:Ap4m1	UTSW	5	138,176,632 (GRCm39)	missense	probably benign	0.15
R5631:Ap4m1	UTSW	5	138,173,051 (GRCm39)	makesense	probably null
R5691:Ap4m1	UTSW	5	138,170,653 (GRCm39)	missense	probably damaging	1.00
R6504:Ap4m1	UTSW	5	138,176,358 (GRCm39)	missense	probably benign
R6636:Ap4m1	UTSW	5	138,170,437 (GRCm39)	unclassified	probably benign
R6637:Ap4m1	UTSW	5	138,170,437 (GRCm39)	unclassified	probably benign
R7326:Ap4m1	UTSW	5	138,173,281 (GRCm39)	missense	probably damaging	0.96
R7730:Ap4m1	UTSW	5	138,171,077 (GRCm39)	missense	probably damaging	0.99
R7814:Ap4m1	UTSW	5	138,173,079 (GRCm39)	missense	probably benign	0.05
R8836:Ap4m1	UTSW	5	138,173,061 (GRCm39)	missense	probably damaging	0.99
R8859:Ap4m1	UTSW	5	138,174,185 (GRCm39)	missense	possibly damaging	0.93
R9119:Ap4m1	UTSW	5	138,174,303 (GRCm39)	unclassified	probably benign
R9233:Ap4m1	UTSW	5	138,176,653 (GRCm39)	nonsense	probably null
R9368:Ap4m1	UTSW	5	138,175,445 (GRCm39)	nonsense	probably null
R9665:Ap4m1	UTSW	5	138,171,273 (GRCm39)	missense	probably benign	0.01
X0062:Ap4m1	UTSW	5	138,176,573 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CGGTTCGAAATTAATGCTCGC -3'
(R):5'- CAGTAGTTACCATGACAACCGG -3'

Sequencing Primer
(F):5'- TCGAAATTAATGCTCGCGAGTG -3'
(R):5'- TTACCATGACAACCGGGGACTC -3'

Posted On

2016-10-26