Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Ap4m1'

709117

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 #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138170283-138178691 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 138175445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 319 (C319*)

Ref Sequence

ENSEMBL: ENSMUSP00000019662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000143241] [ENSMUST00000151318] [ENSMUST00000153117]

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 null
Transcript: ENSMUST00000019662
AA Change: C319*

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: C319*

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: 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: 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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abcc9	A	T	6: 142,640,251 (GRCm39)	L79H	probably damaging	Het
Alb	A	G	5: 90,623,143 (GRCm39)	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,331,816 (GRCm39)	L776*	probably null	Het
Ank3	A	G	10: 69,823,329 (GRCm39)	K666R		Het
Ankrd17	T	C	5: 90,391,986 (GRCm39)	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,207,815 (GRCm39)	F738L	probably benign	Het
Arsj	C	T	3: 126,232,745 (GRCm39)	T497M	probably damaging	Het
Begain	G	T	12: 108,999,918 (GRCm39)	S284R	probably damaging	Het
Bicc1	A	T	10: 70,785,917 (GRCm39)	N408K	probably benign	Het
Cacybp	T	C	1: 160,031,208 (GRCm39)	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,721,336 (GRCm39)	D17G	probably benign	Het
Cd1d1	C	A	3: 86,905,939 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,251,200 (GRCm39)	C554Y	probably damaging	Het
Chsy1	A	G	7: 65,821,499 (GRCm39)	D578G	probably damaging	Het
Col6a6	T	C	9: 105,663,300 (GRCm39)	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,563,738 (GRCm39)	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,318,159 (GRCm39)	D380G	probably benign	Het
Dnah6	A	T	6: 72,998,261 (GRCm39)	S4054T	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,762,837 (GRCm39)	R1648G	probably benign	Het
Fam117b	A	T	1: 60,020,740 (GRCm39)	M537L	probably benign	Het
Fcrl2	C	T	3: 87,164,906 (GRCm39)	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,560,457 (GRCm39)	S147P	probably benign	Het
Fgfr3	G	A	5: 33,885,216 (GRCm39)	R110Q	probably benign	Het
Frmd6	T	A	12: 70,933,865 (GRCm39)		probably null	Het
Fry	A	G	5: 150,401,403 (GRCm39)	R356G		Het
Fsip2	A	G	2: 82,811,039 (GRCm39)	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 111,983,923 (GRCm39)	T181I	probably benign	Het
Hoxc10	A	G	15: 102,879,382 (GRCm39)	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 21,883,895 (GRCm39)	D463V	probably damaging	Het
Ints13	T	C	6: 146,467,129 (GRCm39)	D194G	probably null	Het
Kif5c	A	T	2: 49,622,792 (GRCm39)	E548V	probably damaging	Het
Lrp2	T	C	2: 69,357,979 (GRCm39)	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,545,245 (GRCm39)	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,299,134 (GRCm39)	M35V	probably damaging	Het
Mical1	T	A	10: 41,357,302 (GRCm39)	M369K	possibly damaging	Het
Mre11a	T	A	9: 14,736,514 (GRCm39)	F548L	probably benign	Het
Muc20	C	T	16: 32,614,471 (GRCm39)	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,488,622 (GRCm39)	D571G	probably damaging	Het
Nup88	T	C	11: 70,858,756 (GRCm39)	K131E	probably damaging	Het
Nwd2	A	G	5: 63,962,306 (GRCm39)	D630G	probably damaging	Het
Or3a1	A	G	11: 74,225,193 (GRCm39)	L288P	probably damaging	Het
Or5h19	C	T	16: 58,856,678 (GRCm39)	V141M	probably benign	Het
Or6c212	A	T	10: 129,558,881 (GRCm39)	C177*	probably null	Het
Pdzd8	A	T	19: 59,289,219 (GRCm39)	L727*	probably null	Het
Pi16	T	A	17: 29,546,852 (GRCm39)	N475K	probably benign	Het
Pikfyve	G	A	1: 65,307,901 (GRCm39)	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,314,138 (GRCm39)	S768T	probably benign	Het
Plxnc1	T	A	10: 94,700,599 (GRCm39)	R656*	probably null	Het
Poglut1	A	G	16: 38,349,850 (GRCm39)	W308R	probably damaging	Het
Prmt9	T	G	8: 78,285,663 (GRCm39)	V165G	probably benign	Het
Ptch2	A	G	4: 116,961,969 (GRCm39)	E102G	probably damaging	Het
Rpn2	G	T	2: 157,141,500 (GRCm39)	A303S	possibly damaging	Het
Rttn	A	C	18: 89,078,576 (GRCm39)	H1334P	probably damaging	Het
Septin3	A	T	15: 82,163,739 (GRCm39)	D32V	probably damaging	Het
Sftpa1	G	T	14: 40,854,417 (GRCm39)	M1I	probably null	Het
Slc15a2	G	A	16: 36,574,080 (GRCm39)	T591I	probably benign	Het
Slc18a2	C	T	19: 59,262,791 (GRCm39)	T252I	probably benign	Het
Smchd1	A	G	17: 71,694,071 (GRCm39)	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,078,561 (GRCm39)	G454S	probably damaging	Het
Swt1	A	G	1: 151,286,767 (GRCm39)	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,647,928 (GRCm39)	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,299,640 (GRCm39)	V141A	probably damaging	Het
Ticrr	A	G	7: 79,330,735 (GRCm39)	D711G	probably damaging	Het
Trim45	A	T	3: 100,832,319 (GRCm39)	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp25	G	A	16: 76,904,843 (GRCm39)	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,273,442 (GRCm39)	M752K	probably damaging	Het
Wdr35	G	A	12: 9,071,826 (GRCm39)	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,814,494 (GRCm39)	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,250,046 (GRCm39)		probably null	Het
Zfp454	G	C	11: 50,764,537 (GRCm39)	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (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
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
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'- CCAGGGCTTACTATGGAAGG -3'
(R):5'- TGGGCTTGACTAACTCCCAC -3'

Sequencing Primer
(F):5'- AGAGATGATACGATGTAGTCTTGGC -3'
(R):5'- TGTGTGTTTTGTTTTCTGAGACAG -3'

Posted On

2022-04-18