Incidental Mutation 'R1112:Arb2a'
| ID |
96883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arb2a
|
| Ensembl Gene |
ENSMUSG00000064138 |
| Gene Name |
ARB2 cotranscriptional regulator A |
| Synonyms |
53-E6, 1110033M05Rik, 9430037D06Rik, Fam172a, 2610318O14Rik, pEN87 |
| MMRRC Submission |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
77856799-78314359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77910005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 40
(Y40C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091459]
[ENSMUST00000099358]
[ENSMUST00000163257]
[ENSMUST00000224217]
[ENSMUST00000224908]
[ENSMUST00000225623]
|
| AlphaFold |
Q3TNH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091459
AA Change: Y40C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: Y40C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arb2
|
30 |
178 |
7.8e-38 |
PFAM |
|
SCOP:d1imja_
|
224 |
295 |
2e-3 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099358
AA Change: Y40C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: Y40C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1imja_
|
160 |
231 |
2e-3 |
SMART |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163257
AA Change: Y86C
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Arb2
|
78 |
228 |
3.5e-44 |
PFAM |
|
SCOP:d1imja_
|
270 |
341 |
2e-3 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224013
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224217
AA Change: Y40C
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224908
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225623
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
| Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Arb2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Arb2a
|
APN |
13 |
78,100,094 (GRCm39) |
splice site |
probably benign |
|
|
IGL01455:Arb2a
|
APN |
13 |
78,050,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL01534:Arb2a
|
APN |
13 |
78,147,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL01812:Arb2a
|
APN |
13 |
77,909,966 (GRCm39) |
nonsense |
probably null |
|
|
R0107:Arb2a
|
UTSW |
13 |
78,050,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0329:Arb2a
|
UTSW |
13 |
77,910,070 (GRCm39) |
intron |
probably benign |
|
|
R0455:Arb2a
|
UTSW |
13 |
77,982,832 (GRCm39) |
splice site |
probably benign |
|
|
R1434:Arb2a
|
UTSW |
13 |
77,910,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Arb2a
|
UTSW |
13 |
77,973,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1667:Arb2a
|
UTSW |
13 |
77,907,635 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R1961:Arb2a
|
UTSW |
13 |
78,050,839 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2018:Arb2a
|
UTSW |
13 |
78,147,756 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5878:Arb2a
|
UTSW |
13 |
78,100,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Arb2a
|
UTSW |
13 |
77,907,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Arb2a
|
UTSW |
13 |
77,907,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Arb2a
|
UTSW |
13 |
78,050,837 (GRCm39) |
missense |
probably benign |
|
|
R8080:Arb2a
|
UTSW |
13 |
78,154,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Arb2a
|
UTSW |
13 |
78,147,781 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8895:Arb2a
|
UTSW |
13 |
78,147,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Arb2a
|
UTSW |
13 |
78,311,725 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF003:Arb2a
|
UTSW |
13 |
77,982,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGTGGTCCCAGGTAGCCCT -3'
(R):5'- CCATGTAAACGACTCACTGGAAAGTCA -3'
Sequencing Primer
(F):5'- CACTCTCATGGCATTATCTGGTAGG -3'
(R):5'- GGACTATGTGAACTACTATACCTTCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation