Incidental Mutation 'R5631:Ap4m1'
ID |
439849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap4m1
|
Ensembl Gene |
ENSMUSG00000019518 |
Gene Name |
adaptor-related protein complex AP-4, mu 1 |
Synonyms |
4930443L05Rik |
MMRRC Submission |
043282-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5631 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 138173051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 98
(*98W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000048698]
[ENSMUST00000110936]
[ENSMUST00000110937]
[ENSMUST00000139983]
[ENSMUST00000143241]
[ENSMUST00000151318]
[ENSMUST00000153867]
[ENSMUST00000155902]
[ENSMUST00000148879]
[ENSMUST00000153117]
[ENSMUST00000147920]
[ENSMUST00000148094]
|
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 |
possibly damaging
Transcript: ENSMUST00000019662
AA Change: R131G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019662 Gene: ENSMUSG00000019518 AA Change: R131G
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 |
noncoding transcript
Transcript: ENSMUST00000134100
|
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: ENSMUST00000142687
|
Predicted Effect |
probably null
Transcript: ENSMUST00000143241
AA Change: *98W
|
SMART Domains |
Protein: ENSMUSP00000123770 Gene: ENSMUSG00000019518 AA Change: *98W
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
86 |
2e-25 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151318
AA Change: R145G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121338 Gene: ENSMUSG00000019518 AA Change: R145G
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
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 |
|
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
A |
11: 72,067,590 (GRCm39) |
V567L |
possibly damaging |
Het |
Abraxas1 |
T |
G |
5: 100,965,840 (GRCm39) |
Y68S |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,195,160 (GRCm39) |
Q543* |
probably null |
Het |
Anapc1 |
T |
C |
2: 128,499,137 (GRCm39) |
Y845C |
possibly damaging |
Het |
Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
Cramp1 |
T |
A |
17: 25,204,577 (GRCm39) |
T275S |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,832,898 (GRCm39) |
S1038G |
probably benign |
Het |
Fancm |
T |
C |
12: 65,160,617 (GRCm39) |
V1397A |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,629,355 (GRCm39) |
T2203A |
probably damaging |
Het |
Gm57858 |
G |
C |
3: 36,101,026 (GRCm39) |
Q49E |
probably damaging |
Het |
Heatr5a |
T |
A |
12: 52,002,310 (GRCm39) |
I209F |
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,808 (GRCm39) |
C126S |
probably damaging |
Het |
Ipo4 |
A |
G |
14: 55,869,526 (GRCm39) |
V378A |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,870,838 (GRCm39) |
V265I |
probably benign |
Het |
Kcnv1 |
T |
A |
15: 44,972,753 (GRCm39) |
T377S |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,731,985 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
T |
C |
2: 101,900,301 (GRCm39) |
D67G |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,646,456 (GRCm39) |
M535L |
probably benign |
Het |
Mfhas1 |
G |
A |
8: 36,055,573 (GRCm39) |
R16Q |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,333,383 (GRCm39) |
K1355* |
probably null |
Het |
Mrgprf |
A |
G |
7: 144,862,283 (GRCm39) |
I282V |
probably benign |
Het |
Mvb12b |
G |
T |
2: 33,717,715 (GRCm39) |
P142Q |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
Ncoa5 |
T |
C |
2: 164,855,041 (GRCm39) |
D27G |
possibly damaging |
Het |
Nrap |
T |
G |
19: 56,342,553 (GRCm39) |
E780A |
probably benign |
Het |
Oplah |
T |
C |
15: 76,189,441 (GRCm39) |
I228V |
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,475,952 (GRCm39) |
S172T |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,704,638 (GRCm39) |
M433V |
probably benign |
Het |
Polr3h |
T |
A |
15: 81,810,113 (GRCm39) |
|
probably benign |
Het |
Ppfibp1 |
T |
C |
6: 146,898,358 (GRCm39) |
Y105H |
probably damaging |
Het |
Rplp2 |
A |
C |
7: 141,031,172 (GRCm39) |
|
probably benign |
Het |
Rps6ka4 |
T |
C |
19: 6,808,345 (GRCm39) |
|
probably benign |
Het |
Rspry1 |
A |
T |
8: 95,355,706 (GRCm39) |
M1L |
possibly damaging |
Het |
Runx1 |
C |
A |
16: 92,492,451 (GRCm39) |
R64L |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc9a5 |
C |
T |
8: 106,076,141 (GRCm39) |
H45Y |
possibly damaging |
Het |
Smc4 |
T |
C |
3: 68,937,645 (GRCm39) |
I890T |
probably benign |
Het |
Smtnl1 |
T |
C |
2: 84,649,098 (GRCm39) |
E52G |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,294,139 (GRCm39) |
I319N |
probably damaging |
Het |
Stt3b |
G |
A |
9: 115,083,913 (GRCm39) |
T421I |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,319,825 (GRCm39) |
L47P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,409,882 (GRCm38) |
Y850H |
probably damaging |
Het |
Trim34a |
A |
T |
7: 103,897,946 (GRCm39) |
E158V |
probably damaging |
Het |
Trp53i13 |
C |
A |
11: 77,400,419 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
T |
C |
15: 9,361,971 (GRCm39) |
V249A |
probably damaging |
Het |
Vmn1r128 |
G |
A |
7: 21,083,300 (GRCm39) |
M1I |
probably null |
Het |
Yars1 |
T |
G |
4: 129,103,542 (GRCm39) |
L297R |
probably damaging |
Het |
Yju2b |
G |
T |
8: 84,990,510 (GRCm39) |
Q41K |
probably damaging |
Het |
Zkscan3 |
A |
G |
13: 21,578,703 (GRCm39) |
L176P |
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 |
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'- AGGCAAGCTCCCTTTGTTCC -3'
(R):5'- TGGGGCCACTTTATTCTGC -3'
Sequencing Primer
(F):5'- TCTCGTCTCTGAATGGGAGCAC -3'
(R):5'- GGGCCACTTTATTCTGCTGTGTC -3'
|
Posted On |
2016-11-08 |