Incidental Mutation 'R6388:Abi3'
| ID |
515644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi3
|
| Ensembl Gene |
ENSMUSG00000018381 |
| Gene Name |
ABI family member 3 |
| Synonyms |
2210414K06Rik |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95720900-95733302 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95724464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054173]
[ENSMUST00000059026]
[ENSMUST00000107712]
[ENSMUST00000133070]
[ENSMUST00000150134]
|
| AlphaFold |
Q8BYZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054173
|
| SMART Domains |
Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Put_Phosphatase
|
27 |
264 |
6.9e-103 |
PFAM |
|
Pfam:HAD
|
29 |
211 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000059026
|
| SMART Domains |
Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
|
Pfam:Abi_HHR
|
96 |
168 |
4.3e-31 |
PFAM |
|
low complexity region
|
206 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
303 |
N/A |
INTRINSIC |
|
SH3
|
312 |
367 |
1.41e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107712
|
| SMART Domains |
Protein: ENSMUSP00000103340
Gene: ENSMUSG00000038811
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
5 |
69 |
6.71e-18 |
SMART |
|
GGL
|
8 |
69 |
9.66e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133070
|
| SMART Domains |
Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
244 |
267 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
271 |
291 |
6.15e1 |
SMART |
|
ZnF_C2H2
|
298 |
321 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.95e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137645
|
| SMART Domains |
Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
1 |
49 |
8.8e-14 |
PFAM |
|
low complexity region
|
87 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
183 |
N/A |
INTRINSIC |
|
SH3
|
192 |
244 |
2.89e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176538
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Abi3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Abi3
|
APN |
11 |
95,726,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Abi3
|
UTSW |
11 |
95,723,541 (GRCm39) |
makesense |
probably null |
|
|
R0626:Abi3
|
UTSW |
11 |
95,727,937 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0690:Abi3
|
UTSW |
11 |
95,724,460 (GRCm39) |
unclassified |
probably benign |
|
|
R4653:Abi3
|
UTSW |
11 |
95,723,637 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5358:Abi3
|
UTSW |
11 |
95,732,934 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5881:Abi3
|
UTSW |
11 |
95,725,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Abi3
|
UTSW |
11 |
95,725,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Abi3
|
UTSW |
11 |
95,732,851 (GRCm39) |
nonsense |
probably null |
|
|
R6036:Abi3
|
UTSW |
11 |
95,723,684 (GRCm39) |
unclassified |
probably benign |
|
|
R6036:Abi3
|
UTSW |
11 |
95,723,684 (GRCm39) |
unclassified |
probably benign |
|
|
R6130:Abi3
|
UTSW |
11 |
95,727,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Abi3
|
UTSW |
11 |
95,723,567 (GRCm39) |
unclassified |
probably benign |
|
|
R7867:Abi3
|
UTSW |
11 |
95,724,851 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7922:Abi3
|
UTSW |
11 |
95,723,619 (GRCm39) |
missense |
unknown |
|
|
R9641:Abi3
|
UTSW |
11 |
95,724,503 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTTCCTGTCATCACTCATAATG -3'
(R):5'- TTTAGCAGTGCGGAAGGTGC -3'
Sequencing Primer
(F):5'- TGCCTCTAGCCAGACTCAG -3'
(R):5'- AAGGTGCCAGTGGGATCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation