Incidental Mutation 'IGL02499:Abr'
ID |
295968 |
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: 0.735)
|
Stock # |
IGL02499
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76399916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 27
(F27Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000155035]
[ENSMUST00000176024]
[ENSMUST00000176179]
|
AlphaFold |
Q5SSL4 |
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
AA Change: F27Y
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000091551 Gene: ENSMUSG00000017631 AA Change: F27Y
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 |
noncoding transcript
Transcript: ENSMUST00000119724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155035
|
SMART Domains |
Protein: ENSMUSP00000122614 Gene: ENSMUSG00000017631
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
49 |
110 |
1.6e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176024
|
SMART Domains |
Protein: ENSMUSP00000135691 Gene: ENSMUSG00000017631
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a1
|
41 |
92 |
1e-5 |
SMART |
Blast:RhoGEF
|
49 |
92 |
5e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176179
|
SMART Domains |
Protein: ENSMUSP00000135515 Gene: ENSMUSG00000017631
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
49 |
128 |
1.1e-12 |
PFAM |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
Alas1 |
A |
T |
9: 106,118,520 (GRCm39) |
Y201N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
Dzip3 |
A |
C |
16: 48,754,213 (GRCm39) |
L945V |
probably damaging |
Het |
Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,467,342 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
Pask |
A |
T |
1: 93,248,817 (GRCm39) |
L861* |
probably null |
Het |
Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,426,593 (GRCm39) |
|
probably null |
Het |
Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
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 |
IGL01774:Abr
|
APN |
11 |
76,355,125 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-04-16 |