Incidental Mutation 'R9032:Acap1'
| ID |
687147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap1
|
| Ensembl Gene |
ENSMUSG00000001588 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
| Synonyms |
Centb1 |
| MMRRC Submission |
068861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69772491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 728
(E728G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
[ENSMUST00000178597]
|
| AlphaFold |
Q8K2H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001631
AA Change: E728G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: E728G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
5 |
240 |
2.1e-68 |
PFAM |
|
PH
|
266 |
362 |
4.42e-15 |
SMART |
|
ArfGap
|
405 |
527 |
2.42e-50 |
SMART |
|
ANK
|
606 |
635 |
4.01e0 |
SMART |
|
ANK
|
639 |
668 |
3.04e0 |
SMART |
|
ANK
|
672 |
702 |
4.18e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050555
|
| SMART Domains |
Protein: ENSMUSP00000059107
Gene: ENSMUSG00000046731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB_2
|
1 |
73 |
1.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108622
AA Change: E540G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: E540G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
78 |
174 |
4.42e-15 |
SMART |
|
ArfGap
|
217 |
339 |
2.42e-50 |
SMART |
|
ANK
|
418 |
447 |
4.01e0 |
SMART |
|
ANK
|
451 |
480 |
3.04e0 |
SMART |
|
ANK
|
484 |
514 |
4.18e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178597
|
| SMART Domains |
Protein: ENSMUSP00000137492
Gene: ENSMUSG00000094845
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:TMEM95
|
17 |
168 |
3.9e-83 |
PFAM |
|
| Meta Mutation Damage Score |
0.1492 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,844,782 (GRCm39) |
M78I |
probably benign |
Het |
| Abca8b |
C |
T |
11: 109,848,073 (GRCm39) |
V803M |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,194,637 (GRCm39) |
T385M |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,819,641 (GRCm39) |
I93V |
probably benign |
Het |
| Aopep |
C |
T |
13: 63,444,681 (GRCm39) |
R752* |
probably null |
Het |
| Apoa4 |
T |
A |
9: 46,154,275 (GRCm39) |
L292Q |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,249 (GRCm39) |
D1142E |
probably benign |
Het |
| Asb5 |
A |
T |
8: 55,038,929 (GRCm39) |
D265V |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,889,294 (GRCm39) |
A391V |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,891,529 (GRCm39) |
V1136A |
probably benign |
Het |
| Cacna1c |
G |
T |
6: 118,615,466 (GRCm39) |
Y1308* |
probably null |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,853,534 (GRCm39) |
S92P |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,613,639 (GRCm39) |
F353S |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,041,064 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,492,894 (GRCm39) |
N3872I |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,767 (GRCm39) |
M214K |
probably damaging |
Het |
| Fgf17 |
A |
G |
14: 70,874,436 (GRCm39) |
F129L |
probably damaging |
Het |
| Fnbp1 |
T |
C |
2: 30,973,017 (GRCm39) |
D161G |
probably damaging |
Het |
| Frmd4b |
A |
C |
6: 97,269,334 (GRCm39) |
S993A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,385 (GRCm39) |
S256P |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,660,628 (GRCm39) |
S654G |
|
Het |
| Lmnb2 |
T |
C |
10: 80,740,091 (GRCm39) |
D442G |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,515,660 (GRCm39) |
M115V |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,655,302 (GRCm39) |
Y641C |
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,134,582 (GRCm39) |
V61E |
probably damaging |
Het |
| Mrtfb |
A |
C |
16: 13,230,092 (GRCm39) |
T926P |
probably damaging |
Het |
| Mtap |
AC |
A |
4: 89,090,515 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
A |
7: 141,287,058 (GRCm39) |
C154S |
probably damaging |
Het |
| Mypn |
T |
G |
10: 62,983,894 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nes |
T |
G |
3: 87,887,069 (GRCm39) |
V1776G |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,169,383 (GRCm39) |
I132T |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,718,317 (GRCm39) |
V798I |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,324,817 (GRCm39) |
H425N |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,601,385 (GRCm39) |
N2344S |
probably benign |
Het |
| Pfas |
C |
T |
11: 68,879,421 (GRCm39) |
G263S |
|
Het |
| Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,806 (GRCm39) |
N299S |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,348,660 (GRCm39) |
N49T |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,099 (GRCm39) |
F97S |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,035,073 (GRCm39) |
F336L |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,608,776 (GRCm39) |
P143S |
probably benign |
Het |
| Rsph6a |
A |
T |
7: 18,799,250 (GRCm39) |
N294Y |
probably damaging |
Het |
| Serpinb9h |
T |
C |
13: 33,581,781 (GRCm39) |
Y113H |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,686,835 (GRCm39) |
|
probably benign |
Het |
| Sh3d19 |
T |
C |
3: 86,033,992 (GRCm39) |
Y782H |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,049 (GRCm39) |
V374A |
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,256,227 (GRCm39) |
F156S |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,202,808 (GRCm39) |
I301F |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,910,240 (GRCm39) |
K412E |
possibly damaging |
Het |
| Tas2r115 |
A |
T |
6: 132,714,327 (GRCm39) |
V208E |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,843,835 (GRCm39) |
Q174K |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,237,749 (GRCm39) |
Y338* |
probably null |
Het |
| Vav3 |
C |
T |
3: 109,413,722 (GRCm39) |
A220V |
probably benign |
Het |
| Wt1 |
C |
A |
2: 104,957,160 (GRCm39) |
Q7K |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,672,650 (GRCm39) |
F204L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,660 (GRCm39) |
L425H |
probably damaging |
Het |
|
| Other mutations in Acap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Acap1
|
APN |
11 |
69,773,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01148:Acap1
|
APN |
11 |
69,781,729 (GRCm39) |
nonsense |
probably null |
|
|
IGL01398:Acap1
|
APN |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Acap1
|
APN |
11 |
69,772,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Acap1
|
APN |
11 |
69,775,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Acap1
|
APN |
11 |
69,786,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02083:Acap1
|
APN |
11 |
69,780,336 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02535:Acap1
|
APN |
11 |
69,773,520 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02669:Acap1
|
APN |
11 |
69,785,421 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03125:Acap1
|
APN |
11 |
69,777,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
autobot
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Drone
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0127:Acap1
|
UTSW |
11 |
69,778,043 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Acap1
|
UTSW |
11 |
69,776,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0604:Acap1
|
UTSW |
11 |
69,775,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0863:Acap1
|
UTSW |
11 |
69,777,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1331:Acap1
|
UTSW |
11 |
69,773,202 (GRCm39) |
splice site |
probably null |
|
|
R1911:Acap1
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Acap1
|
UTSW |
11 |
69,780,324 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2411:Acap1
|
UTSW |
11 |
69,776,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Acap1
|
UTSW |
11 |
69,780,317 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2910:Acap1
|
UTSW |
11 |
69,777,902 (GRCm39) |
splice site |
probably benign |
|
|
R4164:Acap1
|
UTSW |
11 |
69,780,863 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4223:Acap1
|
UTSW |
11 |
69,774,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4562:Acap1
|
UTSW |
11 |
69,776,177 (GRCm39) |
intron |
probably benign |
|
|
R4676:Acap1
|
UTSW |
11 |
69,780,294 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4852:Acap1
|
UTSW |
11 |
69,775,202 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4921:Acap1
|
UTSW |
11 |
69,778,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4928:Acap1
|
UTSW |
11 |
69,776,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5536:Acap1
|
UTSW |
11 |
69,780,133 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5886:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
|
R6053:Acap1
|
UTSW |
11 |
69,777,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6196:Acap1
|
UTSW |
11 |
69,777,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6220:Acap1
|
UTSW |
11 |
69,780,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6295:Acap1
|
UTSW |
11 |
69,781,413 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6333:Acap1
|
UTSW |
11 |
69,774,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6414:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
|
R6848:Acap1
|
UTSW |
11 |
69,775,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Acap1
|
UTSW |
11 |
69,776,343 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7243:Acap1
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8066:Acap1
|
UTSW |
11 |
69,780,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8691:Acap1
|
UTSW |
11 |
69,781,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8704:Acap1
|
UTSW |
11 |
69,773,489 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9233:Acap1
|
UTSW |
11 |
69,775,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9397:Acap1
|
UTSW |
11 |
69,775,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Acap1
|
UTSW |
11 |
69,772,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Acap1
|
UTSW |
11 |
69,772,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acap1
|
UTSW |
11 |
69,773,269 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGTAACCACGGCTACCC -3'
(R):5'- AACATGTTTTGGGCACAGCG -3'
Sequencing Primer
(F):5'- TACCCGCACCTGGGTGG -3'
(R):5'- TTTGGGCACAGCGAACGTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation