Incidental Mutation 'IGL01774:Abr'
| ID |
154059 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abr
|
| Ensembl Gene |
ENSMUSG00000017631 |
| Gene Name |
active BCR-related gene |
| Synonyms |
6330400K15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.747)
|
| Stock # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76355125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065028]
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
[ENSMUST00000151526]
|
| AlphaFold |
Q5SSL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065028
|
| SMART Domains |
Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
12 |
65 |
5.4e-11 |
PFAM |
|
PH
|
84 |
243 |
1.58e-11 |
SMART |
|
C2
|
287 |
394 |
1.88e-11 |
SMART |
|
RhoGAP
|
440 |
619 |
6.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072740
|
| SMART Domains |
Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
95 |
283 |
2.37e-56 |
SMART |
|
PH
|
302 |
461 |
1.58e-11 |
SMART |
|
C2
|
505 |
612 |
1.88e-11 |
SMART |
|
RhoGAP
|
658 |
837 |
6.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094012
|
| SMART Domains |
Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
107 |
295 |
2.37e-56 |
SMART |
|
PH
|
314 |
473 |
1.58e-11 |
SMART |
|
C2
|
517 |
624 |
1.88e-11 |
SMART |
|
RhoGAP
|
670 |
849 |
6.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108407
|
| SMART Domains |
Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
49 |
237 |
2.37e-56 |
SMART |
|
PH
|
256 |
415 |
1.58e-11 |
SMART |
|
C2
|
459 |
566 |
1.88e-11 |
SMART |
|
RhoGAP
|
612 |
791 |
6.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108408
|
| SMART Domains |
Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
RhoGEF
|
58 |
246 |
2.37e-56 |
SMART |
|
PH
|
265 |
424 |
1.58e-11 |
SMART |
|
C2
|
468 |
575 |
1.88e-11 |
SMART |
|
RhoGAP
|
621 |
800 |
6.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151526
|
| SMART Domains |
Protein: ENSMUSP00000135544
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
5 |
161 |
3.85e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
Het |
|
| Other mutations in Abr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Abr
|
APN |
11 |
76,313,915 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00571:Abr
|
APN |
11 |
76,359,566 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02208:Abr
|
APN |
11 |
76,346,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Abr
|
APN |
11 |
76,352,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Abr
|
APN |
11 |
76,399,916 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02606:Abr
|
APN |
11 |
76,369,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Abr
|
APN |
11 |
76,309,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Abr
|
APN |
11 |
76,316,121 (GRCm39) |
nonsense |
probably null |
|
|
R0051:Abr
|
UTSW |
11 |
76,363,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0311:Abr
|
UTSW |
11 |
76,399,953 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0344:Abr
|
UTSW |
11 |
76,369,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0621:Abr
|
UTSW |
11 |
76,399,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Abr
|
UTSW |
11 |
76,346,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1081:Abr
|
UTSW |
11 |
76,346,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Abr
|
UTSW |
11 |
76,399,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Abr
|
UTSW |
11 |
76,343,176 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2147:Abr
|
UTSW |
11 |
76,346,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2250:Abr
|
UTSW |
11 |
76,342,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Abr
|
UTSW |
11 |
76,377,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Abr
|
UTSW |
11 |
76,359,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4507:Abr
|
UTSW |
11 |
76,342,683 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4518:Abr
|
UTSW |
11 |
76,363,344 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4632:Abr
|
UTSW |
11 |
76,399,845 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4751:Abr
|
UTSW |
11 |
76,347,434 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4853:Abr
|
UTSW |
11 |
76,355,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Abr
|
UTSW |
11 |
76,346,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Abr
|
UTSW |
11 |
76,354,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Abr
|
UTSW |
11 |
76,315,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6478:Abr
|
UTSW |
11 |
76,343,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7030:Abr
|
UTSW |
11 |
76,350,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Abr
|
UTSW |
11 |
76,313,987 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8353:Abr
|
UTSW |
11 |
76,310,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Abr
|
UTSW |
11 |
76,369,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8962:Abr
|
UTSW |
11 |
76,352,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8967:Abr
|
UTSW |
11 |
76,369,855 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9130:Abr
|
UTSW |
11 |
76,342,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9275:Abr
|
UTSW |
11 |
76,355,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Abr
|
UTSW |
11 |
76,399,751 (GRCm39) |
missense |
probably benign |
|
|
R9516:Abr
|
UTSW |
11 |
76,310,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation