Incidental Mutation 'R6215:Sh3glb2'
| ID |
503644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3glb2
|
| Ensembl Gene |
ENSMUSG00000026860 |
| Gene Name |
SH3-domain GRB2-like endophilin B2 |
| Synonyms |
|
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30234821-30249349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30235805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 313
(E313G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028214]
[ENSMUST00000064447]
[ENSMUST00000100215]
[ENSMUST00000113620]
[ENSMUST00000113621]
[ENSMUST00000163668]
|
| AlphaFold |
Q8R3V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028214
AA Change: E329G
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: E329G
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
8.25e-92 |
SMART |
|
low complexity region
|
288 |
334 |
N/A |
INTRINSIC |
|
SH3
|
338 |
395 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064447
|
| SMART Domains |
Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
31 |
941 |
9.3e-213 |
PFAM |
|
low complexity region
|
1020 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1696 |
1709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100215
AA Change: E334G
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: E334G
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
4.42e-92 |
SMART |
|
low complexity region
|
293 |
339 |
N/A |
INTRINSIC |
|
SH3
|
343 |
400 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113620
AA Change: E308G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: E308G
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
3.85e-92 |
SMART |
|
low complexity region
|
267 |
313 |
N/A |
INTRINSIC |
|
SH3
|
317 |
374 |
2.16e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113621
AA Change: E338G
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: E338G
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
284 |
5.36e-91 |
SMART |
|
low complexity region
|
297 |
343 |
N/A |
INTRINSIC |
|
SH3
|
347 |
404 |
2.16e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133421
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163668
AA Change: E313G
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: E313G
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
2.06e-92 |
SMART |
|
low complexity region
|
272 |
318 |
N/A |
INTRINSIC |
|
SH3
|
322 |
379 |
2.16e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140899
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
|
| Other mutations in Sh3glb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Sh3glb2
|
APN |
2 |
30,235,862 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02189:Sh3glb2
|
APN |
2 |
30,235,351 (GRCm39) |
splice site |
probably null |
|
|
IGL02724:Sh3glb2
|
APN |
2 |
30,236,368 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03352:Sh3glb2
|
APN |
2 |
30,235,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Sh3glb2
|
UTSW |
2 |
30,240,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Sh3glb2
|
UTSW |
2 |
30,244,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Sh3glb2
|
UTSW |
2 |
30,240,679 (GRCm39) |
nonsense |
probably null |
|
|
R3894:Sh3glb2
|
UTSW |
2 |
30,245,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4523:Sh3glb2
|
UTSW |
2 |
30,240,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5587:Sh3glb2
|
UTSW |
2 |
30,244,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5933:Sh3glb2
|
UTSW |
2 |
30,240,401 (GRCm39) |
splice site |
probably null |
|
|
R6679:Sh3glb2
|
UTSW |
2 |
30,240,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Sh3glb2
|
UTSW |
2 |
30,245,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Sh3glb2
|
UTSW |
2 |
30,249,216 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8500:Sh3glb2
|
UTSW |
2 |
30,249,216 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9380:Sh3glb2
|
UTSW |
2 |
30,238,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9594:Sh3glb2
|
UTSW |
2 |
30,236,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Sh3glb2
|
UTSW |
2 |
30,236,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGAGAGTGAGCAGAGTTG -3'
(R):5'- CCTTGTGTGTAAAATGGGCC -3'
Sequencing Primer
(F):5'- TGTGCAGATTCAGTGTCCC -3'
(R):5'- CTCTCACAGGTTAGTGATGGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation