Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Ap4m1'

727753

Institutional Source

Beutler Lab

Gene Symbol

Ap4m1

Ensembl Gene

ENSMUSG00000019518

Gene Name

adaptor-related protein complex AP-4, mu 1

Synonyms

4930443L05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9665 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138170283-138178691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138171273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 98 (N98K)

Ref Sequence

ENSEMBL: ENSMUSP00000019662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000139983] [ENSMUST00000143241] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000148879] [ENSMUST00000151318] [ENSMUST00000153867] [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 benign
Transcript: ENSMUST00000019662
AA Change: N98K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: N98K

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

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

probably benign
Transcript: ENSMUST00000143241

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

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

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: 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: ENSMUST00000151318
AA Change: N112K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: N112K

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

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: 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,796 (GRCm39)	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 65,141,288 (GRCm39)	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,103,344 (GRCm39)	V642F	probably benign	Het
Abca9	T	A	11: 110,006,280 (GRCm39)	Q1275L	probably benign	Het
Abca9	G	T	11: 110,006,281 (GRCm39)	Q1275K	probably benign	Het
Ager	C	T	17: 34,819,090 (GRCm39)	P313S	probably benign	Het
Arhgef12	T	G	9: 42,929,650 (GRCm39)	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,849,518 (GRCm39)	Y370H	probably benign	Het
Bcat1	T	G	6: 144,994,488 (GRCm39)	H3P	probably benign	Het
Btnl6	T	A	17: 34,732,635 (GRCm39)	Q313L	probably benign	Het
Cad	T	C	5: 31,229,703 (GRCm39)	S1458P	probably benign	Het
Cfap161	A	G	7: 83,442,579 (GRCm39)	V78A	probably benign	Het
Chd2	C	A	7: 73,079,555 (GRCm39)	A1782S	probably benign	Het
Cimip2b	T	A	4: 43,427,554 (GRCm39)	R257*	probably null	Het
Col4a3	A	T	1: 82,668,301 (GRCm39)	T1042S	unknown	Het
Cramp1	A	T	17: 25,196,545 (GRCm39)	N856K	probably damaging	Het
Crispld2	G	A	8: 120,760,316 (GRCm39)	R414H	probably benign	Het
Ctsb	T	A	14: 63,370,917 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,839,504 (GRCm39)	D373G	possibly damaging	Het
Dnah3	A	G	7: 119,644,981 (GRCm39)	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,971,374 (GRCm39)	L225F	probably damaging	Het
Dscc1	A	T	15: 54,946,837 (GRCm39)	I296K	unknown	Het
Epb41l2	A	G	10: 25,317,798 (GRCm39)	D105G	probably benign	Het
Evpl	G	A	11: 116,123,497 (GRCm39)	R292C	probably damaging	Het
Flnc	T	C	6: 29,455,447 (GRCm39)	I2032T	probably damaging	Het
Fryl	T	A	5: 73,222,299 (GRCm39)	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,331,457 (GRCm39)	S202G	unknown	Het
Hdgfl1	A	T	13: 26,953,812 (GRCm39)	M87K	probably benign	Het
Htra3	T	A	5: 35,836,654 (GRCm39)	I13F	unknown	Het
Igf2r	T	C	17: 12,913,027 (GRCm39)	N1774D	probably benign	Het
Ighj1	A	T	12: 113,393,446 (GRCm39)	Y3N		Het
Incenp	T	C	19: 9,871,329 (GRCm39)	H100R	unknown	Het
Klrb1c	A	G	6: 128,760,625 (GRCm39)		probably null	Het
Lmbrd1	T	A	1: 24,732,065 (GRCm39)	V94D	probably damaging	Het
Lmna	A	T	3: 88,389,793 (GRCm39)	S611T	probably benign	Het
Lsp1	A	C	7: 142,044,142 (GRCm39)	I296L	probably benign	Het
Mdga1	A	T	17: 30,051,991 (GRCm39)	I892N	probably damaging	Het
Micu3	A	G	8: 40,828,666 (GRCm39)	E351G	probably benign	Het
Mrpl35	A	G	6: 71,795,704 (GRCm39)	V61A	probably benign	Het
Nhsl1	A	G	10: 18,401,599 (GRCm39)	K908E	possibly damaging	Het
Nlk	A	G	11: 78,481,753 (GRCm39)	L236P		Het
Nwd1	T	A	8: 73,401,106 (GRCm39)	H735Q	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,656 (GRCm39)	I47F	probably benign	Het
Or5d47	A	G	2: 87,804,596 (GRCm39)	S138P	possibly damaging	Het
Or5w17	A	T	2: 87,583,671 (GRCm39)	I222N	probably damaging	Het
Or7h8	T	A	9: 20,124,402 (GRCm39)	Y252*	probably null	Het
Otof	T	A	5: 30,584,895 (GRCm39)	S70C	probably benign	Het
Pcdh20	A	T	14: 88,707,162 (GRCm39)	V46D	probably benign	Het
Pjvk	A	G	2: 76,487,827 (GRCm39)	T240A	probably benign	Het
Pou2f1	A	G	1: 165,703,600 (GRCm39)	S697P	probably damaging	Het
Prkn	T	A	17: 11,286,062 (GRCm39)	D18E	possibly damaging	Het
Prmt9	G	A	8: 78,307,267 (GRCm39)	V739I	probably benign	Het
Prr14	A	G	7: 127,073,091 (GRCm39)	D146G	probably benign	Het
Rai14	T	G	15: 10,574,803 (GRCm39)	E747D	probably damaging	Het
Rapgef4	A	T	2: 72,036,018 (GRCm39)	T504S	probably benign	Het
Rilpl2	C	A	5: 124,616,240 (GRCm39)		probably benign	Het
Ror2	A	T	13: 53,439,561 (GRCm39)	M1K	probably null	Het
Shisa9	A	G	16: 12,085,446 (GRCm39)	T352A	probably benign	Het
Slc35a4	A	G	18: 36,813,651 (GRCm39)	N33S	probably benign	Het
Slx4	G	T	16: 3,806,890 (GRCm39)	L518I	probably benign	Het
Speer1i	A	G	5: 11,092,852 (GRCm39)	K132R		Het
Spon2	T	C	5: 33,374,702 (GRCm39)	T35A	probably benign	Het
Syne3	A	C	12: 104,924,247 (GRCm39)	L471R	probably benign	Het
Tas2r115	A	G	6: 132,714,390 (GRCm39)	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,102,886 (GRCm39)	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,819,572 (GRCm39)	E24G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tjp1	A	G	7: 64,962,644 (GRCm39)	S1178P	probably benign	Het
Upf2	A	G	2: 6,051,715 (GRCm39)	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,083,362 (GRCm39)	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,660,607 (GRCm39)	V340F	probably damaging	Het
Vps13c	A	T	9: 67,863,025 (GRCm39)	K3014*	probably null	Het
Wdr75	T	C	1: 45,843,013 (GRCm39)	V126A	unknown	Het
Yeats4	A	T	10: 117,053,343 (GRCm39)	Y139*	probably null	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zfp143	C	G	7: 109,692,414 (GRCm39)	I608M	probably damaging	Het
Zfp772	A	T	7: 7,212,793 (GRCm39)	M1K	probably null	Het
Zfp827	A	G	8: 79,906,756 (GRCm39)	M923V	possibly damaging	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
R5585:Ap4m1	UTSW	5	138,170,502 (GRCm39)	missense	probably damaging	1.00
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
X0062:Ap4m1	UTSW	5	138,176,573 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTGCCTCAGTATCACGGTG -3'
(R):5'- TGGATTTAGCAGATTCTACAACAAG -3'

Sequencing Primer
(F):5'- CATCAGACACAGTGGGCTCTATTTG -3'
(R):5'- GTAGAAGATACCTGATCTCCACAC -3'

Posted On

2022-10-06