Incidental Mutation 'R0621:Abr'
| ID |
58683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abr
|
| Ensembl Gene |
ENSMUSG00000017631 |
| Gene Name |
active BCR-related gene |
| Synonyms |
6330400K15Rik |
| MMRRC Submission |
038810-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R0621 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76399898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 33
(D33G)
|
| 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
AA Change: N21S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: N21S
| 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 damaging
Transcript: ENSMUST00000094012
AA Change: D33G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: D33G
| 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 |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,748,359 (GRCm39) |
S520T |
probably damaging |
Het |
| Afg2a |
C |
T |
3: 37,486,178 (GRCm39) |
T300I |
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,230,433 (GRCm39) |
|
probably null |
Het |
| Aph1b |
A |
T |
9: 66,686,616 (GRCm39) |
I177K |
possibly damaging |
Het |
| Armc3 |
A |
T |
2: 19,300,204 (GRCm39) |
N579I |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,376,099 (GRCm39) |
V131A |
probably benign |
Het |
| C130073F10Rik |
A |
G |
4: 101,747,992 (GRCm39) |
Y61H |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,608,071 (GRCm39) |
L214Q |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,760,176 (GRCm39) |
S425T |
possibly damaging |
Het |
| Cdc42ep4 |
G |
A |
11: 113,619,522 (GRCm39) |
R290C |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,404,825 (GRCm39) |
T352A |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,990 (GRCm39) |
F1161L |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,113,809 (GRCm39) |
|
probably null |
Het |
| Ddx24 |
T |
C |
12: 103,391,817 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,412,752 (GRCm39) |
A591D |
possibly damaging |
Het |
| Efnb3 |
T |
C |
11: 69,446,798 (GRCm39) |
D304G |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Eya3 |
T |
G |
4: 132,422,113 (GRCm39) |
D275E |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,000,929 (GRCm39) |
Q272K |
probably benign |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Gm9637 |
G |
A |
14: 19,402,011 (GRCm38) |
|
noncoding transcript |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,625,433 (GRCm39) |
L61Q |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hoxb3 |
A |
T |
11: 96,236,789 (GRCm39) |
Y289F |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,713,538 (GRCm39) |
R399Q |
probably damaging |
Het |
| Kif26b |
C |
G |
1: 178,743,218 (GRCm39) |
P1105A |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,285,585 (GRCm39) |
T369M |
probably damaging |
Het |
| Lipo2 |
C |
T |
19: 33,708,339 (GRCm39) |
G225D |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,274,327 (GRCm39) |
K6350E |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,232,058 (GRCm39) |
N446T |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
| Or10j2 |
C |
T |
1: 173,098,242 (GRCm39) |
P167S |
possibly damaging |
Het |
| Or11h7 |
G |
A |
14: 50,891,419 (GRCm39) |
G242R |
possibly damaging |
Het |
| Or4a77 |
C |
A |
2: 89,487,459 (GRCm39) |
E109* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,195,725 (GRCm39) |
L137P |
probably damaging |
Het |
| Ppm1f |
G |
A |
16: 16,733,172 (GRCm39) |
R233Q |
probably benign |
Het |
| Rtf2 |
C |
A |
2: 172,308,216 (GRCm39) |
A205E |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,985,629 (GRCm39) |
F359S |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc39a11 |
G |
A |
11: 113,354,905 (GRCm39) |
P108L |
probably benign |
Het |
| Slc6a5 |
G |
A |
7: 49,567,113 (GRCm39) |
|
probably null |
Het |
| Snph |
C |
T |
2: 151,435,642 (GRCm39) |
V360M |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,223,651 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,759,408 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
A |
2: 13,662,093 (GRCm39) |
N246I |
probably damaging |
Het |
| Thy1 |
T |
A |
9: 43,958,030 (GRCm39) |
F53I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,317,387 (GRCm39) |
Y421* |
probably null |
Het |
| Ttc21b |
C |
T |
2: 66,056,355 (GRCm39) |
R677Q |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,252 (GRCm39) |
I602F |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,096,226 (GRCm39) |
G1016C |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,953,486 (GRCm39) |
E182G |
possibly damaging |
Het |
| Zfp597 |
A |
G |
16: 3,684,228 (GRCm39) |
I176T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACAGGCGTCACAAGTCCAG -3'
(R):5'- ACATGCTATTAGGCGGGTGGAGAC -3'
Sequencing Primer
(F):5'- AGCTCACTGCTGACACTG -3'
(R):5'- TCTGACGGACTCAGCAGAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation