Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Ap4m1'

568895

Institutional Source

Beutler Lab

Gene Symbol

Ap4m1

Ensembl Gene

ENSMUSG00000019518

Gene Name

adaptor-related protein complex AP-4, mu 1

Synonyms

4930443L05Rik

MMRRC Submission

045378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138170283-138178691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138173281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 180 (D180N)

Ref Sequence

ENSEMBL: ENSMUSP00000019662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000139983] [ENSMUST00000143241] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000148879] [ENSMUST00000151318] [ENSMUST00000153117] [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 damaging
Transcript: ENSMUST00000019662
AA Change: D180N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: D180N

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: ENSMUST00000048698

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1e-35	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110936

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:TAF6_C	308	397	1.1e-33	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110937

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1.9e-36	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	549	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
low complexity region	606	615	N/A	INTRINSIC

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

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153117

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	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: 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: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	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
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'- CCAAACTGAAGCTGTGGTCAG -3'
(R):5'- TCTGCACATACACTCATGCC -3'

Sequencing Primer
(F):5'- TGTGGTCAGCAAGCCCTTCAG -3'
(R):5'- TACACTCATGCCTAAAATAAAAGAGG -3'

Posted On

2019-09-13