Incidental Mutation 'R8722:Acap3'
| ID |
662159 |
| 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 |
068572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R8722 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 155990415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 834
(*834Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079031
AA Change: *830Q
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: *830Q
| 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 null
Transcript: ENSMUST00000105584
AA Change: *834Q
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: *834Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,823,101 (GRCm39) |
C61R |
probably benign |
Het |
| 4933427D14Rik |
A |
G |
11: 72,080,422 (GRCm39) |
F415L |
probably benign |
Het |
| Abcc2 |
G |
A |
19: 43,825,052 (GRCm39) |
G1446D |
possibly damaging |
Het |
| Acaca |
A |
T |
11: 84,229,283 (GRCm39) |
E1703D |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,166,554 (GRCm39) |
S726P |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,244,745 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,296,188 (GRCm39) |
I1071F |
probably benign |
Het |
| Agxt2 |
A |
T |
15: 10,373,825 (GRCm39) |
D77V |
probably benign |
Het |
| Ahnak |
C |
A |
19: 8,990,710 (GRCm39) |
S3998* |
probably null |
Het |
| Asns |
T |
A |
6: 7,676,085 (GRCm39) |
I462F |
probably damaging |
Het |
| Barx2 |
G |
C |
9: 31,824,280 (GRCm39) |
C36W |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,883 (GRCm39) |
V162A |
possibly damaging |
Het |
| Bptf |
A |
G |
11: 107,022,295 (GRCm39) |
S152P |
unknown |
Het |
| Brpf3 |
T |
C |
17: 29,029,510 (GRCm39) |
L490P |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,220,568 (GRCm39) |
D1052G |
probably benign |
Het |
| Ccn1 |
T |
A |
3: 145,354,584 (GRCm39) |
N109I |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,064,565 (GRCm39) |
H311R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,772,975 (GRCm39) |
R1022C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,969,703 (GRCm39) |
D741G |
possibly damaging |
Het |
| Csmd2 |
T |
A |
4: 128,445,743 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,961,283 (GRCm39) |
Q2568* |
probably null |
Het |
| Dspp |
A |
G |
5: 104,326,433 (GRCm39) |
D932G |
unknown |
Het |
| Dtwd2 |
T |
C |
18: 49,833,385 (GRCm39) |
T223A |
probably damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,686 (GRCm39) |
N256S |
possibly damaging |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,515 (GRCm39) |
Y34C |
unknown |
Het |
| Gstcd |
T |
A |
3: 132,777,822 (GRCm39) |
K330* |
probably null |
Het |
| Igf2bp1 |
A |
G |
11: 95,861,606 (GRCm39) |
V277A |
possibly damaging |
Het |
| Kidins220 |
G |
A |
12: 25,051,593 (GRCm39) |
V332I |
probably benign |
Het |
| Kif24 |
T |
C |
4: 41,394,233 (GRCm39) |
H1014R |
probably benign |
Het |
| Lrrc43 |
T |
C |
5: 123,646,142 (GRCm39) |
Y639H |
possibly damaging |
Het |
| Med22 |
T |
C |
2: 26,800,313 (GRCm39) |
T39A |
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,179,177 (GRCm39) |
Y91C |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,542,707 (GRCm39) |
M115T |
probably damaging |
Het |
| Or10w3 |
T |
C |
19: 13,704,033 (GRCm39) |
M136T |
possibly damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,882 (GRCm39) |
I9F |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,708 (GRCm39) |
R265H |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,247,317 (GRCm39) |
D24G |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,163,772 (GRCm39) |
C250Y |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,548,254 (GRCm39) |
L8M |
unknown |
Het |
| Plch2 |
A |
T |
4: 155,069,860 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
T |
C |
1: 10,055,894 (GRCm39) |
K198R |
probably benign |
Het |
| Prlh |
G |
T |
1: 90,880,897 (GRCm39) |
R23L |
possibly damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,049 (GRCm39) |
T923K |
probably damaging |
Het |
| Rps11 |
T |
C |
7: 44,772,616 (GRCm39) |
N65S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,603,116 (GRCm39) |
T2463A |
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,729,485 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,002,518 (GRCm39) |
V166E |
probably damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,714,452 (GRCm39) |
R97C |
unknown |
Het |
| Slpi |
A |
C |
2: 164,197,975 (GRCm39) |
M1R |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,972,095 (GRCm39) |
V994D |
probably benign |
Het |
| Tacc3 |
T |
C |
5: 33,825,553 (GRCm39) |
Y435H |
probably damaging |
Het |
| Tpgs2 |
T |
A |
18: 25,274,679 (GRCm39) |
Q132L |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,956,114 (GRCm39) |
I462N |
probably benign |
Het |
| Zfp281 |
C |
T |
1: 136,553,334 (GRCm39) |
A104V |
probably benign |
Het |
| Zfp40 |
A |
G |
17: 23,395,157 (GRCm39) |
C477R |
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 |
|
|
R4882:Acap3
|
UTSW |
4 |
155,990,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- ACTGTGCGGGGATAGAATCAC -3'
(R):5'- AATGATGTAGTGCTCGGGTTCC -3'
Sequencing Primer
(F):5'- ACTGTGCGGGGATAGAATCACTTTAC -3'
(R):5'- TCCTCTGGCTGAGCATCAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation