Incidental Mutation 'R6935:Sh3bp5'
| ID |
540267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp5
|
| Ensembl Gene |
ENSMUSG00000021892 |
| Gene Name |
SH3-domain binding protein 5 (BTK-associated) |
| Synonyms |
Sab |
| MMRRC Submission |
045008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R6935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31094571-31158056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31101473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 170
(M170L)
|
| 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: M170L
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892
AA Change: M170L
| 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 |
possibly damaging
Transcript: ENSMUST00000100730
AA Change: M168L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892
AA Change: M168L
| 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 damaging
Transcript: ENSMUST00000140002
AA Change: M170L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
AA Change: M170L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
| Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
| Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
| Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
| Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
| Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
| Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
| Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
| Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly 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 |
|
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 |
|
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'- GGCCTACATAAAAGCACTTGC -3'
(R):5'- ACTGTCATAGCCACCTTGGG -3'
Sequencing Primer
(F):5'- GCACTTGCTCGACAGTCC -3'
(R):5'- TCTGACAGGCTTTTCCAGAACAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation