Incidental Mutation 'R9119:Ap4m1'
| ID |
723509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4m1
|
| Ensembl Gene |
ENSMUSG00000019518 |
| Gene Name |
adaptor-related protein complex AP-4, mu 1 |
| Synonyms |
4930443L05Rik |
| MMRRC Submission |
068922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 138174303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000048698]
[ENSMUST00000110936]
[ENSMUST00000110937]
[ENSMUST00000143241]
[ENSMUST00000147920]
[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 benign
Transcript: ENSMUST00000019662
|
| SMART Domains |
Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
| 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: ENSMUST00000147920
|
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (42/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Aass |
A |
T |
6: 23,094,000 (GRCm39) |
M517K |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,868,442 (GRCm39) |
V245A |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,658,995 (GRCm39) |
V2783A |
probably damaging |
Het |
| Anxa3 |
T |
A |
5: 96,976,557 (GRCm39) |
I181N |
|
Het |
| C1ql1 |
T |
A |
11: 102,836,879 (GRCm39) |
K137* |
probably null |
Het |
| Camkmt |
T |
A |
17: 85,403,988 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,288,909 (GRCm39) |
L220P |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,309,288 (GRCm39) |
A1656T |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,186 (GRCm39) |
N3352S |
possibly damaging |
Het |
| Fbxo40 |
C |
A |
16: 36,786,457 (GRCm39) |
R704L |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,319 (GRCm39) |
T600A |
possibly damaging |
Het |
| Ggh |
T |
A |
4: 20,057,955 (GRCm39) |
M172K |
probably damaging |
Het |
| Gpr137 |
G |
A |
19: 6,915,811 (GRCm39) |
T373I |
probably benign |
Het |
| Kpna2rt |
T |
C |
17: 90,217,621 (GRCm39) |
K42E |
probably damaging |
Het |
| Mtnr1a |
G |
A |
8: 45,541,003 (GRCm39) |
M321I |
probably benign |
Het |
| Nebl |
T |
G |
2: 17,405,370 (GRCm39) |
N383T |
probably damaging |
Het |
| Nob1 |
A |
G |
8: 108,142,776 (GRCm39) |
S302P |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,334,016 (GRCm39) |
H358Q |
probably benign |
Het |
| Or6b3 |
G |
T |
1: 92,438,904 (GRCm39) |
T282K |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,829,107 (GRCm39) |
T1495I |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,809,872 (GRCm39) |
E609K |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,932,832 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,858,449 (GRCm39) |
Q1614* |
probably null |
Het |
| Psg21 |
T |
G |
7: 18,381,409 (GRCm39) |
K378T |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,712 (GRCm39) |
N749I |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,334 (GRCm39) |
V64G |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,911,292 (GRCm39) |
T1793A |
possibly damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,135 (GRCm39) |
H77R |
probably null |
Het |
| Sfswap |
C |
A |
5: 129,591,829 (GRCm39) |
T282N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,433 (GRCm39) |
Y362F |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,131,553 (GRCm39) |
T486A |
probably benign |
Het |
| Tpm4 |
A |
G |
8: 72,892,525 (GRCm39) |
N76D |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,279,753 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,192,950 (GRCm39) |
T237I |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,610,834 (GRCm39) |
V334A |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,228 (GRCm39) |
F936I |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,643,025 (GRCm39) |
K308E |
probably damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,527 (GRCm39) |
P190S |
possibly damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,897 (GRCm39) |
E385G |
probably 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 |
|
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'- TTGCCTGTCCATTTGAAGACAG -3'
(R):5'- ATATCTCTGTGGGAGGAAGGAC -3'
Sequencing Primer
(F):5'- TCCATTTGAAGACAGGGTTCCAG -3'
(R):5'- CTCTGTGGGAGGAAGGACATGAG -3'
|
| Posted On |
2022-08-10 |
Incidental Mutation