Incidental Mutation 'R8432:Ap4b1'
| ID |
653789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4b1
|
| Ensembl Gene |
ENSMUSG00000032952 |
| Gene Name |
adaptor-related protein complex AP-4, beta 1 |
| Synonyms |
AP-4 beta-4, 1810038H16Rik |
| MMRRC Submission |
067882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103728135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 551
(R551Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047285]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
| AlphaFold |
Q9WV76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047285
AA Change: R551Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: R551Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
525 |
7e-94 |
PFAM |
|
Pfam:Cnd1
|
98 |
269 |
2.4e-11 |
PFAM |
|
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076599
AA Change: R551Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: R551Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
525 |
1e-93 |
PFAM |
|
Pfam:Cnd1
|
98 |
286 |
3.9e-10 |
PFAM |
|
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106823
AA Change: R523Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: R523Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
6 |
374 |
2e-68 |
PFAM |
|
Pfam:Cnd1
|
98 |
285 |
1.4e-10 |
PFAM |
|
Pfam:Adaptin_N
|
371 |
497 |
5.2e-16 |
PFAM |
|
B2-adapt-app_C
|
591 |
703 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106824
AA Change: R476Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: R476Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
|
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
|
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199710
AA Change: R476Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: R476Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
|
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
|
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200377
AA Change: R383Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: R383Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
7 |
357 |
2.9e-45 |
PFAM |
|
B2-adapt-app_C
|
451 |
563 |
2.8e-46 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit poor rotarod performance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
A |
G |
9: 122,197,317 (GRCm39) |
Y168C |
probably damaging |
Het |
| Agbl1 |
A |
C |
7: 76,774,434 (GRCm39) |
R1119S |
unknown |
Het |
| Agpat5 |
A |
T |
8: 18,896,777 (GRCm39) |
N68Y |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,088,091 (GRCm39) |
I1122V |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,226,857 (GRCm39) |
D300E |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,013,635 (GRCm38) |
V112A |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,635 (GRCm39) |
L324H |
unknown |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bnip5 |
C |
T |
17: 29,118,545 (GRCm39) |
R629H |
probably benign |
Het |
| Cacng2 |
A |
G |
15: 77,897,522 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,109,484 (GRCm39) |
|
probably null |
Het |
| Cdh5 |
A |
T |
8: 104,839,698 (GRCm39) |
E56D |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,535,227 (GRCm39) |
S268R |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,386,610 (GRCm39) |
I1552F |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,581 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
G |
C |
1: 53,657,195 (GRCm39) |
I860M |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,584,576 (GRCm39) |
M660L |
probably benign |
Het |
| Ecd |
T |
A |
14: 20,370,998 (GRCm39) |
T574S |
probably benign |
Het |
| Efna5 |
A |
G |
17: 62,958,017 (GRCm39) |
Y80H |
probably damaging |
Het |
| Ercc5 |
A |
T |
1: 44,206,841 (GRCm39) |
K585* |
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,533 (GRCm39) |
S127P |
probably benign |
Het |
| Gckr |
A |
T |
5: 31,466,447 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Gid8 |
A |
G |
2: 180,356,654 (GRCm39) |
N97S |
probably benign |
Het |
| Gm28042 |
G |
T |
2: 119,869,077 (GRCm39) |
C557F |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Gzf1 |
A |
G |
2: 148,532,115 (GRCm39) |
T581A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,110,930 (GRCm39) |
Y973N |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,804,860 (GRCm39) |
E2296G |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,324,583 (GRCm39) |
N4648I |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,098,011 (GRCm39) |
D157E |
possibly damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,939,136 (GRCm39) |
V222A |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,912,378 (GRCm39) |
V1896A |
probably benign |
Het |
| Myo9a |
G |
A |
9: 59,687,548 (GRCm39) |
V218M |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,267,880 (GRCm39) |
T49S |
probably benign |
Het |
| Nsd1 |
T |
G |
13: 55,395,516 (GRCm39) |
M1142R |
possibly damaging |
Het |
| Or52e8 |
T |
G |
7: 104,625,199 (GRCm39) |
T2P |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,272 (GRCm39) |
Y65C |
probably damaging |
Het |
| Otulinl |
A |
T |
15: 27,664,818 (GRCm39) |
M46K |
possibly damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,260 (GRCm39) |
D242G |
possibly damaging |
Het |
| Pkdrej |
T |
G |
15: 85,701,494 (GRCm39) |
I1481L |
probably benign |
Het |
| Prkag1 |
T |
C |
15: 98,713,425 (GRCm39) |
I87V |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,873,080 (GRCm39) |
I74N |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,548 (GRCm39) |
S547G |
probably damaging |
Het |
| Rbm19 |
T |
G |
5: 120,313,991 (GRCm39) |
F868V |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,221,468 (GRCm39) |
V11A |
probably benign |
Het |
| Smpd3 |
T |
A |
8: 106,984,309 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
T |
10: 23,826,053 (GRCm39) |
I200L |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,019,228 (GRCm39) |
Y139C |
probably damaging |
Het |
| Taf15 |
AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG |
AGAAGTGG |
11: 83,395,851 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,615,363 (GRCm39) |
N487K |
probably benign |
Het |
| Tex15 |
A |
C |
8: 34,066,572 (GRCm39) |
I2001L |
probably damaging |
Het |
| Tmem168 |
A |
G |
6: 13,602,535 (GRCm39) |
F277S |
probably benign |
Het |
| Trim67 |
TGCCGCCGCCGCCGC |
TGCCGCCGCCGC |
8: 125,520,801 (GRCm39) |
|
probably benign |
Het |
| Tspan1 |
G |
T |
4: 116,021,151 (GRCm39) |
Q116K |
probably benign |
Het |
| Ttc24 |
G |
A |
3: 87,977,366 (GRCm39) |
R325C |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,693,900 (GRCm39) |
E323K |
|
Het |
| Xirp2 |
A |
T |
2: 67,340,962 (GRCm39) |
M1068L |
probably benign |
Het |
| Zbtb38 |
A |
C |
9: 96,568,291 (GRCm39) |
M931R |
possibly damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,346 (GRCm39) |
*65Q |
probably null |
Het |
|
| Other mutations in Ap4b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Ap4b1
|
APN |
3 |
103,728,858 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01545:Ap4b1
|
APN |
3 |
103,720,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02422:Ap4b1
|
APN |
3 |
103,720,170 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02525:Ap4b1
|
APN |
3 |
103,720,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Ap4b1
|
UTSW |
3 |
103,727,980 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Ap4b1
|
UTSW |
3 |
103,727,980 (GRCm39) |
splice site |
probably benign |
|
|
R0086:Ap4b1
|
UTSW |
3 |
103,722,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0090:Ap4b1
|
UTSW |
3 |
103,727,745 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0136:Ap4b1
|
UTSW |
3 |
103,717,262 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0299:Ap4b1
|
UTSW |
3 |
103,717,262 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0403:Ap4b1
|
UTSW |
3 |
103,728,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0403:Ap4b1
|
UTSW |
3 |
103,726,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1283:Ap4b1
|
UTSW |
3 |
103,726,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Ap4b1
|
UTSW |
3 |
103,725,161 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1797:Ap4b1
|
UTSW |
3 |
103,726,149 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1869:Ap4b1
|
UTSW |
3 |
103,728,184 (GRCm39) |
nonsense |
probably null |
|
|
R2925:Ap4b1
|
UTSW |
3 |
103,727,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Ap4b1
|
UTSW |
3 |
103,726,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4079:Ap4b1
|
UTSW |
3 |
103,720,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Ap4b1
|
UTSW |
3 |
103,728,765 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4786:Ap4b1
|
UTSW |
3 |
103,726,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5824:Ap4b1
|
UTSW |
3 |
103,720,701 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6342:Ap4b1
|
UTSW |
3 |
103,720,684 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6826:Ap4b1
|
UTSW |
3 |
103,720,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6923:Ap4b1
|
UTSW |
3 |
103,719,530 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6974:Ap4b1
|
UTSW |
3 |
103,720,601 (GRCm39) |
nonsense |
probably null |
|
|
R7409:Ap4b1
|
UTSW |
3 |
103,719,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7827:Ap4b1
|
UTSW |
3 |
103,722,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Ap4b1
|
UTSW |
3 |
103,728,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8504:Ap4b1
|
UTSW |
3 |
103,720,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8897:Ap4b1
|
UTSW |
3 |
103,729,065 (GRCm39) |
missense |
probably benign |
|
|
R9138:Ap4b1
|
UTSW |
3 |
103,722,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Ap4b1
|
UTSW |
3 |
103,722,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTATGGTTGGCACGGAG -3'
(R):5'- CCATGACAAGATGTAAGGTAAACACTC -3'
Sequencing Primer
(F):5'- AACTCAATGAGGTTTAACTGAATCTG -3'
(R):5'- CACTCTTTTTACCTGATGTGGCAAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation