Incidental Mutation 'R5498:Sh3bp5'
ID |
432488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp5
|
Ensembl Gene |
ENSMUSG00000021892 |
Gene Name |
SH3-domain binding protein 5 (BTK-associated) |
Synonyms |
Sab |
MMRRC Submission |
043059-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
R5498 (G1)
|
Quality Score |
141 |
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: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
probably benign |
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 |
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 |
R5862: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'- ATCAAATGAGCACAGCGTCC -3'
(R):5'- TGTTGTAATCATGTGTCACCCC -3'
Sequencing Primer
(F):5'- AGCGTCCCACAATACATGAG -3'
(R):5'- ATGTGTCACCCCCTCCATCAG -3'
|
Posted On |
2016-10-05 |