Incidental Mutation 'R9283:Ap4b1'
ID |
703730 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R9283 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103722259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 246
(S246G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047285]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
AlphaFold |
Q9WV76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047285
AA Change: S246G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044262 Gene: ENSMUSG00000032952 AA Change: S246G
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 damaging
Transcript: ENSMUST00000076599
AA Change: S246G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075904 Gene: ENSMUSG00000032952 AA Change: S246G
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 damaging
Transcript: ENSMUST00000106823
AA Change: S246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102436 Gene: ENSMUSG00000032952 AA Change: S246G
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 damaging
Transcript: ENSMUST00000106824
AA Change: S171G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102437 Gene: ENSMUSG00000032952 AA Change: S171G
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 damaging
Transcript: ENSMUST00000199710
AA Change: S171G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143463 Gene: ENSMUSG00000105053 AA Change: S171G
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 damaging
Transcript: ENSMUST00000200377
AA Change: S78G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143355 Gene: ENSMUSG00000032952 AA Change: S78G
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
G |
15: 102,258,499 (GRCm39) |
V47A |
probably benign |
Het |
Aamdc |
A |
G |
7: 97,199,842 (GRCm39) |
V140A |
probably benign |
Het |
Acsm3 |
T |
A |
7: 119,373,115 (GRCm39) |
M206K |
possibly damaging |
Het |
Adprhl1 |
T |
C |
8: 13,273,540 (GRCm39) |
T1073A |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,882,261 (GRCm39) |
I46V |
probably benign |
Het |
Bach1 |
A |
G |
16: 87,516,211 (GRCm39) |
T251A |
probably benign |
Het |
Cry2 |
A |
G |
2: 92,244,249 (GRCm39) |
L308P |
probably damaging |
Het |
Daam1 |
G |
T |
12: 72,035,696 (GRCm39) |
G964C |
probably damaging |
Het |
Ddx10 |
T |
G |
9: 53,146,656 (GRCm39) |
N189H |
probably benign |
Het |
Dlg4 |
T |
A |
11: 69,922,617 (GRCm39) |
C241* |
probably null |
Het |
Dpy19l1 |
G |
T |
9: 24,332,412 (GRCm39) |
Y489* |
probably null |
Het |
E2f4 |
C |
A |
8: 106,024,395 (GRCm39) |
A8E |
probably benign |
Het |
Gm3486 |
T |
C |
14: 41,210,268 (GRCm39) |
N71S |
possibly damaging |
Het |
Ighv1-23 |
A |
G |
12: 114,728,225 (GRCm39) |
W66R |
probably damaging |
Het |
Kcnh5 |
A |
G |
12: 75,023,307 (GRCm39) |
L587P |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,392,233 (GRCm39) |
Y274H |
possibly damaging |
Het |
Kif16b |
T |
A |
2: 142,554,900 (GRCm39) |
M633L |
probably benign |
Het |
Kif23 |
T |
C |
9: 61,852,651 (GRCm39) |
N21S |
probably benign |
Het |
Lamtor3 |
C |
T |
3: 137,633,123 (GRCm39) |
R85C |
probably benign |
Het |
Lin9 |
A |
T |
1: 180,493,493 (GRCm39) |
T240S |
probably damaging |
Het |
Mtus1 |
C |
A |
8: 41,536,519 (GRCm39) |
G399V |
probably benign |
Het |
Mup8 |
C |
T |
4: 60,221,903 (GRCm39) |
V77I |
probably benign |
Het |
Myo5b |
C |
T |
18: 74,777,149 (GRCm39) |
A403V |
probably benign |
Het |
Naf1 |
C |
A |
8: 67,313,503 (GRCm39) |
A162E |
unknown |
Het |
Nat10 |
G |
A |
2: 103,556,092 (GRCm39) |
Q910* |
probably null |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Npas2 |
A |
G |
1: 39,326,689 (GRCm39) |
K58R |
probably damaging |
Het |
Nsd2 |
A |
T |
5: 34,001,058 (GRCm39) |
I192F |
probably benign |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
Or10a3 |
C |
T |
7: 108,480,289 (GRCm39) |
A175T |
probably benign |
Het |
Or2d4 |
G |
A |
7: 106,543,806 (GRCm39) |
T134I |
probably benign |
Het |
Or5b105 |
C |
A |
19: 13,079,821 (GRCm39) |
M282I |
probably damaging |
Het |
Or5b12b |
T |
A |
19: 12,861,961 (GRCm39) |
C239S |
probably damaging |
Het |
Or7e177 |
A |
G |
9: 20,212,419 (GRCm39) |
K309E |
possibly damaging |
Het |
Pcdh17 |
C |
T |
14: 84,685,593 (GRCm39) |
P687S |
possibly damaging |
Het |
Pdpr |
C |
T |
8: 111,856,268 (GRCm39) |
R664W |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pfas |
A |
T |
11: 68,884,708 (GRCm39) |
V498E |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,406,220 (GRCm39) |
Y157F |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,157,637 (GRCm39) |
F2358I |
probably damaging |
Het |
Pip5k1b |
T |
C |
19: 24,337,376 (GRCm39) |
Y304C |
probably damaging |
Het |
Pls1 |
G |
A |
9: 95,655,642 (GRCm39) |
A370V |
probably benign |
Het |
Polm |
A |
T |
11: 5,779,050 (GRCm39) |
L490H |
probably damaging |
Het |
Prdm5 |
T |
C |
6: 65,858,060 (GRCm39) |
C375R |
probably damaging |
Het |
Scmh1 |
A |
T |
4: 120,319,337 (GRCm39) |
M21L |
probably benign |
Het |
Sec16a |
C |
A |
2: 26,313,904 (GRCm39) |
R449S |
|
Het |
Sin3a |
C |
T |
9: 57,002,717 (GRCm39) |
T203I |
probably damaging |
Het |
Six5 |
A |
G |
7: 18,829,148 (GRCm39) |
E196G |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,785,644 (GRCm39) |
V30A |
probably damaging |
Het |
Slc2a12 |
G |
A |
10: 22,540,511 (GRCm39) |
G122E |
probably damaging |
Het |
Smim14 |
A |
G |
5: 65,625,780 (GRCm39) |
C11R |
probably damaging |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,630,174 (GRCm39) |
I718T |
probably damaging |
Het |
Tead4 |
A |
G |
6: 128,205,592 (GRCm39) |
L370P |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,591,630 (GRCm39) |
K15E |
unknown |
Het |
Trim55 |
T |
G |
3: 19,699,612 (GRCm39) |
|
probably null |
Het |
Trpm1 |
A |
T |
7: 63,873,623 (GRCm39) |
N510I |
probably benign |
Het |
Trps1 |
A |
G |
15: 50,694,447 (GRCm39) |
V616A |
probably damaging |
Het |
Usp42 |
A |
T |
5: 143,705,264 (GRCm39) |
V405E |
probably damaging |
Het |
Zfp11 |
A |
T |
5: 129,734,748 (GRCm39) |
S238T |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,030,913 (GRCm39) |
H1009R |
possibly damaging |
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 |
R8432:Ap4b1
|
UTSW |
3 |
103,728,135 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCAGTTGTATGTAGACTGTTCC -3'
(R):5'- TAGTGGGGTTCCGAGTAAGAGC -3'
Sequencing Primer
(F):5'- CAGTTGTATGTAGACTGTTCCATTTG -3'
(R):5'- TGACTGCTAAAGTGACCTGGC -3'
|
Posted On |
2022-03-25 |