Incidental Mutation 'R8268:Sh3bgr'
| ID |
639557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bgr
|
| Ensembl Gene |
ENSMUSG00000040666 |
| Gene Name |
SH3-binding domain glutamic acid-rich protein |
| Synonyms |
5430437A18Rik |
| MMRRC Submission |
067692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R8268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
96001670-96030133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96025674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048770]
[ENSMUST00000129904]
[ENSMUST00000145069]
[ENSMUST00000166952]
[ENSMUST00000171181]
|
| AlphaFold |
Q9WUZ7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000048770
AA Change: T187A
|
| SMART Domains |
Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
1 |
98 |
1.9e-49 |
PFAM |
|
low complexity region
|
120 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123728
|
| SMART Domains |
Protein: ENSMUSP00000116232
Gene: ENSMUSG00000040666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
1 |
98 |
4.7e-50 |
PFAM |
|
Pfam:Glutaredoxin
|
21 |
76 |
6.2e-7 |
PFAM |
|
low complexity region
|
107 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129904
|
| SMART Domains |
Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
30 |
119 |
8.2e-43 |
PFAM |
|
low complexity region
|
141 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666
AA Change: T123A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
1 |
90 |
7.2e-45 |
PFAM |
|
Pfam:Glutaredoxin
|
13 |
68 |
4.8e-7 |
PFAM |
|
low complexity region
|
97 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145069
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116607
Gene: ENSMUSG00000040666
AA Change: T67A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166952
|
| SMART Domains |
Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
1 |
98 |
1.9e-50 |
PFAM |
|
Pfam:Glutaredoxin
|
21 |
76 |
8.7e-7 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171181
AA Change: T187A
|
| SMART Domains |
Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
1 |
98 |
1.9e-49 |
PFAM |
|
low complexity region
|
120 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
212 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,909,961 (GRCm39) |
C396S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
| Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
| Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
| Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
| Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
| Mkrn3 |
A |
G |
7: 62,068,270 (GRCm39) |
L507P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,216,659 (GRCm38) |
S170P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,407 (GRCm39) |
D388G |
probably damaging |
Het |
| Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,587,192 (GRCm39) |
L323P |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
| Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
| Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
| Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
| Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
| Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
| Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
probably benign |
Het |
|
| Other mutations in Sh3bgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Sh3bgr
|
APN |
16 |
96,007,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Sh3bgr
|
APN |
16 |
96,007,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Sh3bgr
|
UTSW |
16 |
96,029,717 (GRCm39) |
unclassified |
probably benign |
|
|
R5042:Sh3bgr
|
UTSW |
16 |
96,007,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5203:Sh3bgr
|
UTSW |
16 |
96,025,720 (GRCm39) |
unclassified |
probably benign |
|
|
R5434:Sh3bgr
|
UTSW |
16 |
96,025,744 (GRCm39) |
unclassified |
probably benign |
|
|
R5441:Sh3bgr
|
UTSW |
16 |
96,007,117 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6563:Sh3bgr
|
UTSW |
16 |
96,007,143 (GRCm39) |
splice site |
probably null |
|
|
R6869:Sh3bgr
|
UTSW |
16 |
96,007,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Sh3bgr
|
UTSW |
16 |
96,007,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Sh3bgr
|
UTSW |
16 |
96,025,681 (GRCm39) |
missense |
unknown |
|
|
R7373:Sh3bgr
|
UTSW |
16 |
96,007,035 (GRCm39) |
missense |
unknown |
|
|
R7382:Sh3bgr
|
UTSW |
16 |
96,007,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7459:Sh3bgr
|
UTSW |
16 |
96,007,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8241:Sh3bgr
|
UTSW |
16 |
96,025,070 (GRCm39) |
missense |
unknown |
|
|
R8396:Sh3bgr
|
UTSW |
16 |
96,007,680 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8793:Sh3bgr
|
UTSW |
16 |
96,025,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9144:Sh3bgr
|
UTSW |
16 |
96,001,931 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGACACTGGCGTAACT -3'
(R):5'- GTCACACAGGTCACACAGGA -3'
Sequencing Primer
(F):5'- ATATGTGTGTATGAGTGTTTGCATG -3'
(R):5'- GGTCACACAGGAGCTAGCACTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation