Incidental Mutation 'R4882:Acap3'
| ID |
375320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap3
|
| Ensembl Gene |
ENSMUSG00000029033 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
| Synonyms |
Centb5, Kiaa1716-hp |
| MMRRC Submission |
042490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R4882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155990112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 764
(D764G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079031
AA Change: D760G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: D760G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
PH
|
265 |
361 |
6.35e-16 |
SMART |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
|
ANK
|
696 |
725 |
3.91e-3 |
SMART |
|
ANK
|
729 |
758 |
2.43e1 |
SMART |
|
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105584
AA Change: D764G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: D764G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
|
PH
|
269 |
365 |
6.35e-16 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
|
ANK
|
700 |
729 |
3.91e-3 |
SMART |
|
ANK
|
733 |
762 |
2.43e1 |
SMART |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145654
|
| Meta Mutation Damage Score |
0.7298 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,310,081 (GRCm39) |
I775F |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,261 (GRCm39) |
M1515K |
probably damaging |
Het |
| Aqp4 |
A |
G |
18: 15,531,311 (GRCm39) |
V150A |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,129 (GRCm39) |
|
probably null |
Het |
| Bap1 |
C |
T |
14: 30,973,678 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
G |
8: 15,092,016 (GRCm39) |
V279A |
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,460,669 (GRCm39) |
Y151H |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,389 (GRCm39) |
S726P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,380 (GRCm39) |
T104A |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Ceacam13 |
A |
G |
7: 17,746,997 (GRCm39) |
H150R |
probably benign |
Het |
| Cebpzos |
T |
C |
17: 79,227,220 (GRCm39) |
Y65H |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,624,683 (GRCm39) |
M630L |
probably benign |
Het |
| Dop1b |
G |
T |
16: 93,549,802 (GRCm39) |
R247L |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,043,069 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,896,174 (GRCm39) |
S648G |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,936 (GRCm38) |
D2022G |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,830,059 (GRCm39) |
N701K |
probably damaging |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,230 (GRCm39) |
H139Y |
probably benign |
Het |
| Hbb-bh2 |
A |
T |
7: 103,488,455 (GRCm39) |
V114E |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,540 (GRCm39) |
Q28L |
probably benign |
Het |
| Inca1 |
T |
C |
11: 70,579,566 (GRCm39) |
T188A |
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,846,496 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,214,369 (GRCm39) |
H238Q |
probably benign |
Het |
| Lpin1 |
G |
C |
12: 16,588,537 (GRCm39) |
F851L |
probably damaging |
Het |
| Map3k9 |
C |
T |
12: 81,770,936 (GRCm39) |
R884Q |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,495 (GRCm39) |
Q818* |
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,164,173 (GRCm39) |
|
probably null |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nppa |
G |
T |
4: 148,085,544 (GRCm39) |
M50I |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,988,756 (GRCm39) |
N665K |
possibly damaging |
Het |
| Plekhh3 |
G |
A |
11: 101,056,009 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhh3 |
T |
A |
11: 101,058,764 (GRCm39) |
E156V |
probably null |
Het |
| Prpf19 |
T |
C |
19: 10,876,323 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,456 (GRCm39) |
V651E |
possibly damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,948,044 (GRCm39) |
N171S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slx4 |
T |
C |
16: 3,798,860 (GRCm39) |
|
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,665,234 (GRCm39) |
|
probably benign |
Het |
| Snca |
A |
G |
6: 60,792,719 (GRCm39) |
V63A |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,390,695 (GRCm39) |
Q92L |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,616,401 (GRCm39) |
V73A |
probably damaging |
Het |
| Usp38 |
G |
A |
8: 81,708,606 (GRCm39) |
Q991* |
probably null |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,866 (GRCm39) |
V673E |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,710 (GRCm39) |
Y2048H |
unknown |
Het |
| Zfp759 |
T |
A |
13: 67,287,354 (GRCm39) |
Y302N |
probably damaging |
Het |
|
| Other mutations in Acap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Acap3
|
APN |
4 |
155,986,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01815:Acap3
|
APN |
4 |
155,986,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Acap3
|
APN |
4 |
155,989,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Acap3
|
APN |
4 |
155,986,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Acap3
|
APN |
4 |
155,976,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03124:Acap3
|
APN |
4 |
155,989,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03052:Acap3
|
UTSW |
4 |
155,987,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Acap3
|
UTSW |
4 |
155,987,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Acap3
|
UTSW |
4 |
155,983,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Acap3
|
UTSW |
4 |
155,986,785 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Acap3
|
UTSW |
4 |
155,989,856 (GRCm39) |
splice site |
probably null |
|
|
R1387:Acap3
|
UTSW |
4 |
155,983,937 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1475:Acap3
|
UTSW |
4 |
155,987,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Acap3
|
UTSW |
4 |
155,980,631 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Acap3
|
UTSW |
4 |
155,981,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Acap3
|
UTSW |
4 |
155,990,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Acap3
|
UTSW |
4 |
155,988,319 (GRCm39) |
splice site |
probably null |
|
|
R2897:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R2898:Acap3
|
UTSW |
4 |
155,987,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2898:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R3008:Acap3
|
UTSW |
4 |
155,990,139 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4170:Acap3
|
UTSW |
4 |
155,984,458 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4193:Acap3
|
UTSW |
4 |
155,986,234 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4822:Acap3
|
UTSW |
4 |
155,986,908 (GRCm39) |
intron |
probably benign |
|
|
R5482:Acap3
|
UTSW |
4 |
155,984,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Acap3
|
UTSW |
4 |
155,981,076 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Acap3
|
UTSW |
4 |
155,986,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5943:Acap3
|
UTSW |
4 |
155,983,879 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6236:Acap3
|
UTSW |
4 |
155,989,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6259:Acap3
|
UTSW |
4 |
155,980,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6790:Acap3
|
UTSW |
4 |
155,987,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Acap3
|
UTSW |
4 |
155,988,306 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7352:Acap3
|
UTSW |
4 |
155,990,168 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7442:Acap3
|
UTSW |
4 |
155,990,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8722:Acap3
|
UTSW |
4 |
155,990,415 (GRCm39) |
makesense |
probably null |
|
|
R8810:Acap3
|
UTSW |
4 |
155,990,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Acap3
|
UTSW |
4 |
155,990,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9182:Acap3
|
UTSW |
4 |
155,989,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Acap3
|
UTSW |
4 |
155,990,145 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF008:Acap3
|
UTSW |
4 |
155,989,555 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Acap3
|
UTSW |
4 |
155,989,544 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Acap3
|
UTSW |
4 |
155,989,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acap3
|
UTSW |
4 |
155,989,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCATGCTACACTCTTG -3'
(R):5'- ACTGCAGCTCTGTAGGACTG -3'
Sequencing Primer
(F):5'- ATGCTACACTCTTGGGCCG -3'
(R):5'- AGCTCTGTAGGACTGCTGCC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation