Incidental Mutation 'R5862:Sh3bp5'
| ID |
453980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp5
|
| Ensembl Gene |
ENSMUSG00000021892 |
| Gene Name |
SH3-domain binding protein 5 (BTK-associated) |
| Synonyms |
Sab |
| MMRRC Submission |
043231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R5862 (G1)
|
| Quality Score |
138 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
31094571-31158056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31099452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 265
(R265L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091903]
[ENSMUST00000100730]
[ENSMUST00000140002]
|
| AlphaFold |
Q9Z131 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091903
AA Change: R265L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892
AA Change: R265L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BP5
|
42 |
272 |
2.2e-99 |
PFAM |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100730
AA Change: R263L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892
AA Change: R263L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BP5
|
60 |
274 |
5.5e-95 |
PFAM |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140002
AA Change: R265L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
AA Change: R265L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BP5
|
42 |
272 |
2.3e-99 |
PFAM |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147586
|
| Meta Mutation Damage Score |
0.2831 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
| Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
| Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
| Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
| Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
| Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
| Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
| Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
| Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
| Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
| Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
| Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
| Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
| Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
| Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
| Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
| Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
| Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
| Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
| Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
| Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
Het |
|
| Other mutations in Sh3bp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Sh3bp5
|
APN |
14 |
31,101,347 (GRCm39) |
nonsense |
probably null |
|
|
IGL02828:Sh3bp5
|
APN |
14 |
31,156,106 (GRCm39) |
splice site |
probably benign |
|
|
R1925:Sh3bp5
|
UTSW |
14 |
31,157,880 (GRCm39) |
missense |
probably benign |
|
|
R2511:Sh3bp5
|
UTSW |
14 |
31,133,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4799:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5303:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5306:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5307:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5308:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5400:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5401:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5402:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5421:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5422:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5496:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5498:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5500:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5687:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5688:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5724:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5762:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5765:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5938:Sh3bp5
|
UTSW |
14 |
31,109,791 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5940:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5941:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6516:Sh3bp5
|
UTSW |
14 |
31,097,629 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6935:Sh3bp5
|
UTSW |
14 |
31,101,473 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7309:Sh3bp5
|
UTSW |
14 |
31,100,246 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8196:Sh3bp5
|
UTSW |
14 |
31,139,399 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8224:Sh3bp5
|
UTSW |
14 |
31,099,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8535:Sh3bp5
|
UTSW |
14 |
31,139,375 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATGAGCACAGCGTCCC -3'
(R):5'- TGTTGTAATCATGTGTCACCCC -3'
Sequencing Primer
(F):5'- AGCGTCCCACAATACATGAG -3'
(R):5'- ATGTGTCACCCCCTCCATCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation