Incidental Mutation 'R5943:Acap3'
| ID |
460402 |
| 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 |
044135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5943 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155983879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079031
AA Change: V115A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: V115A
| 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 |
possibly damaging
Transcript: ENSMUST00000105584
AA Change: V115A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: V115A
| 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: ENSMUST00000126582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145654
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
A |
17: 45,828,637 (GRCm39) |
Q671K |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,925,453 (GRCm39) |
H72R |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,910,740 (GRCm39) |
L18P |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,880,767 (GRCm39) |
T503A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,111,337 (GRCm39) |
F876S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,985 (GRCm39) |
E5760G |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,482,707 (GRCm39) |
I1631K |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,339,526 (GRCm39) |
T457A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,306,561 (GRCm39) |
*1160R |
probably null |
Het |
| Cdc6 |
T |
C |
11: 98,811,589 (GRCm39) |
S517P |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,166 (GRCm39) |
D555E |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,424,420 (GRCm39) |
T205A |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,269,900 (GRCm39) |
I241N |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,621,061 (GRCm39) |
I152F |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,502,737 (GRCm39) |
I349T |
unknown |
Het |
| Coq8b |
T |
A |
7: 26,933,428 (GRCm39) |
F96L |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,018,470 (GRCm39) |
N58I |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,263,718 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
T |
4: 144,646,546 (GRCm39) |
M199L |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,303,675 (GRCm39) |
S1410T |
probably benign |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,721 (GRCm39) |
A13T |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,163,916 (GRCm39) |
R861Q |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,566,609 (GRCm39) |
H220R |
probably damaging |
Het |
| Fas |
T |
G |
19: 34,297,987 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,948 (GRCm39) |
K295* |
probably null |
Het |
| Gldn |
T |
G |
9: 54,245,721 (GRCm39) |
I424R |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,376 (GRCm39) |
V693A |
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,563,852 (GRCm39) |
T269S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,460,357 (GRCm39) |
T2209S |
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,577,173 (GRCm39) |
N351S |
probably benign |
Het |
| Itpkc |
T |
A |
7: 26,912,404 (GRCm39) |
N581I |
possibly damaging |
Het |
| Kank3 |
G |
T |
17: 34,037,375 (GRCm39) |
E226D |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,788 (GRCm39) |
S7P |
unknown |
Het |
| Lrriq3 |
A |
G |
3: 154,869,587 (GRCm39) |
Y304C |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,678,330 (GRCm39) |
S653P |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,980,948 (GRCm39) |
L194* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,302 (GRCm39) |
E138G |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,117,285 (GRCm39) |
R906Q |
probably benign |
Het |
| Nckipsd |
C |
T |
9: 108,689,435 (GRCm39) |
P199S |
possibly damaging |
Het |
| Or52n5 |
T |
A |
7: 104,587,850 (GRCm39) |
I39N |
possibly damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pacsin1 |
T |
C |
17: 27,925,045 (GRCm39) |
L253P |
probably damaging |
Het |
| Pcca |
T |
A |
14: 122,896,188 (GRCm39) |
I268N |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,949,565 (GRCm39) |
D327G |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,232 (GRCm39) |
H1146R |
probably damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,362 (GRCm39) |
S449P |
probably benign |
Het |
| Psmb9 |
T |
C |
17: 34,403,265 (GRCm39) |
E61G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,203 (GRCm39) |
Y101H |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,471,213 (GRCm39) |
I1044T |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,622,561 (GRCm39) |
R554H |
probably damaging |
Het |
| Sp5 |
A |
T |
2: 70,305,659 (GRCm39) |
Q17L |
probably null |
Het |
| Spmip1 |
T |
A |
6: 29,471,908 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Strn |
C |
A |
17: 78,977,276 (GRCm39) |
V211F |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,742,637 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim14 |
T |
C |
4: 46,522,136 (GRCm39) |
I180M |
probably benign |
Het |
| Tsnax |
C |
A |
8: 125,751,278 (GRCm39) |
S90* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,798,780 (GRCm39) |
M498T |
probably benign |
Het |
| Vmn1r198 |
T |
A |
13: 22,539,367 (GRCm39) |
Y195* |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,199 (GRCm39) |
T112A |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
| Yme1l1 |
G |
T |
2: 23,058,342 (GRCm39) |
R158L |
probably damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,483 (GRCm39) |
H47N |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,381,396 (GRCm39) |
|
probably benign |
Het |
| Zfp825 |
T |
C |
13: 74,629,007 (GRCm39) |
R170G |
probably benign |
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 |
|
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'- GACGTTTGGCACATGAACTGG -3'
(R):5'- ACATAGTCCAGCGCCAAGTG -3'
Sequencing Primer
(F):5'- TTGGCACATGAACTGGAGTCTAG -3'
(R):5'- TTGGGCATTCCTCACCA -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation