Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Ap4m1'

31848

Institutional Source

Beutler Lab

Gene Symbol

Ap4m1

Ensembl Gene

ENSMUSG00000019518

Gene Name

adaptor-related protein complex AP-4, mu 1

Synonyms

4930443L05Rik

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138170283-138178691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138170465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 5 (F5I)

Ref Sequence

ENSEMBL: ENSMUSP00000123770 (fasta)

Gene Model

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

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: F5I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: F5I

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 benign
Transcript: ENSMUST00000143241
AA Change: F5I

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518
AA Change: F5I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151318
AA Change: F5I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: F5I

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: ENSMUST00000155902

SMART Domains

Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730

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

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: ENSMUST00000147920

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: 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

Meta Mutation Damage Score

0.0673

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	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
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
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'- AAACGTCGTCACCCATGTGACC -3'
(R):5'- TTCCTACCAAGCTGCCCTTGACAG -3'

Sequencing Primer
(F):5'- CGTTGAAAGATTGCCAGATCCTG -3'
(R):5'- TAGTTACCATGACAACCGGG -3'

Posted On

2013-04-24