Incidental Mutation 'BB004:Sh3rf2'
| ID |
642297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf2
|
| Ensembl Gene |
ENSMUSG00000057719 |
| Gene Name |
SH3 domain containing ring finger 2 |
| Synonyms |
9130023G24Rik, RNF158 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
BB004
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42244487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 350
(T350A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072008]
[ENSMUST00000074679]
|
| AlphaFold |
Q8BZT2 |
| PDB Structure |
Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072008
AA Change: T350A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: T350A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
52 |
7.38e-8 |
SMART |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
SH3
|
128 |
183 |
4.66e-17 |
SMART |
|
SH3
|
190 |
251 |
1.45e-13 |
SMART |
|
low complexity region
|
357 |
366 |
N/A |
INTRINSIC |
|
SH3
|
385 |
442 |
3.27e-12 |
SMART |
|
low complexity region
|
500 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074679
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
52 |
7.38e-8 |
SMART |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
SH3
|
128 |
183 |
4.66e-17 |
SMART |
|
low complexity region
|
325 |
334 |
N/A |
INTRINSIC |
|
SH3
|
353 |
410 |
3.27e-12 |
SMART |
|
low complexity region
|
468 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,123,539 (GRCm39) |
M111T |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,266 (GRCm39) |
G1188D |
probably damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,884 (GRCm39) |
K90R |
probably damaging |
Het |
| Arhgef4 |
G |
T |
1: 34,846,334 (GRCm39) |
Q227H |
probably damaging |
Het |
| B4galt3 |
T |
A |
1: 171,099,342 (GRCm39) |
C10* |
probably null |
Het |
| Banf2 |
T |
A |
2: 143,915,718 (GRCm39) |
M53K |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,371 (GRCm39) |
L249* |
probably null |
Het |
| Cftr |
A |
G |
6: 18,267,970 (GRCm39) |
D673G |
possibly damaging |
Het |
| Cntnap2 |
G |
T |
6: 47,072,621 (GRCm39) |
C1063F |
possibly damaging |
Het |
| Cstpp1 |
T |
A |
2: 91,252,250 (GRCm39) |
D37V |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,494 (GRCm39) |
I296T |
probably damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,197 (GRCm39) |
V88A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,784,647 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,225,656 (GRCm39) |
D532G |
possibly damaging |
Het |
| Fnta |
G |
A |
8: 26,494,454 (GRCm39) |
R258* |
probably null |
Het |
| Gch1 |
G |
A |
14: 47,393,380 (GRCm39) |
H201Y |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,116,890 (GRCm39) |
S624T |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,685,382 (GRCm39) |
S500T |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,485,526 (GRCm39) |
I4359F |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,985,477 (GRCm39) |
H209Q |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,215,395 (GRCm39) |
M164T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,307,476 (GRCm39) |
F3952L |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,592,011 (GRCm39) |
T958A |
|
Het |
| Myo19 |
A |
G |
11: 84,791,046 (GRCm39) |
E419G |
probably damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,527,291 (GRCm39) |
V16A |
possibly damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,496 (GRCm39) |
F154L |
probably benign |
Het |
| Phf24 |
A |
C |
4: 42,934,774 (GRCm39) |
T137P |
probably damaging |
Het |
| Pkp4 |
A |
T |
2: 59,142,098 (GRCm39) |
N467I |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,519,536 (GRCm39) |
I99N |
probably benign |
Het |
| Rbm12b2 |
C |
T |
4: 12,095,417 (GRCm39) |
R759C |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf34 |
T |
A |
5: 122,988,288 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,209,495 (GRCm39) |
S73T |
unknown |
Het |
| Scn4a |
T |
A |
11: 106,233,209 (GRCm39) |
E454D |
probably damaging |
Het |
| Serpina1e |
A |
G |
12: 103,917,450 (GRCm39) |
V73A |
probably benign |
Het |
| Slc35a1 |
A |
G |
4: 34,669,021 (GRCm39) |
V264A |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,923,740 (GRCm39) |
K185E |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,786 (GRCm39) |
S68T |
probably benign |
Het |
| Spsb2 |
T |
C |
6: 124,786,336 (GRCm39) |
F23S |
probably benign |
Het |
| Ssx2ip |
T |
G |
3: 146,138,365 (GRCm39) |
L404R |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,560,556 (GRCm39) |
L236Q |
probably null |
Het |
| Tcp10b |
A |
G |
17: 13,288,579 (GRCm39) |
T202A |
probably benign |
Het |
| Tdp1 |
G |
T |
12: 99,878,555 (GRCm39) |
V448L |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,502,666 (GRCm39) |
E61G |
probably damaging |
Het |
| Trim50 |
T |
C |
5: 135,382,465 (GRCm39) |
F106L |
probably benign |
Het |
| Usp5 |
G |
T |
6: 124,801,192 (GRCm39) |
F224L |
probably benign |
Het |
| Vmn2r114 |
G |
C |
17: 23,510,619 (GRCm39) |
N620K |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,513 (GRCm39) |
M258I |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,779,572 (GRCm39) |
V198E |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,799,170 (GRCm39) |
I722T |
probably benign |
Het |
|
| Other mutations in Sh3rf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Sh3rf2
|
APN |
18 |
42,244,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01012:Sh3rf2
|
APN |
18 |
42,187,257 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01286:Sh3rf2
|
APN |
18 |
42,272,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02369:Sh3rf2
|
APN |
18 |
42,289,222 (GRCm39) |
nonsense |
probably null |
|
|
IGL02563:Sh3rf2
|
APN |
18 |
42,289,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
|
PIT4445001:Sh3rf2
|
UTSW |
18 |
42,286,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0141:Sh3rf2
|
UTSW |
18 |
42,289,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0270:Sh3rf2
|
UTSW |
18 |
42,237,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1447:Sh3rf2
|
UTSW |
18 |
42,234,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1491:Sh3rf2
|
UTSW |
18 |
42,187,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1539:Sh3rf2
|
UTSW |
18 |
42,282,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Sh3rf2
|
UTSW |
18 |
42,244,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Sh3rf2
|
UTSW |
18 |
42,286,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Sh3rf2
|
UTSW |
18 |
42,187,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1942:Sh3rf2
|
UTSW |
18 |
42,282,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Sh3rf2
|
UTSW |
18 |
42,274,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2331:Sh3rf2
|
UTSW |
18 |
42,186,928 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2680:Sh3rf2
|
UTSW |
18 |
42,234,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2938:Sh3rf2
|
UTSW |
18 |
42,282,789 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2940:Sh3rf2
|
UTSW |
18 |
42,244,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3753:Sh3rf2
|
UTSW |
18 |
42,244,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Sh3rf2
|
UTSW |
18 |
42,286,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Sh3rf2
|
UTSW |
18 |
42,244,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Sh3rf2
|
UTSW |
18 |
42,186,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Sh3rf2
|
UTSW |
18 |
42,286,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5228:Sh3rf2
|
UTSW |
18 |
42,286,246 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5437:Sh3rf2
|
UTSW |
18 |
42,274,079 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5792:Sh3rf2
|
UTSW |
18 |
42,244,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5820:Sh3rf2
|
UTSW |
18 |
42,274,112 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6159:Sh3rf2
|
UTSW |
18 |
42,289,200 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6366:Sh3rf2
|
UTSW |
18 |
42,286,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6640:Sh3rf2
|
UTSW |
18 |
42,234,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Sh3rf2
|
UTSW |
18 |
42,234,670 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6995:Sh3rf2
|
UTSW |
18 |
42,234,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Sh3rf2
|
UTSW |
18 |
42,237,227 (GRCm39) |
splice site |
probably null |
|
|
R7122:Sh3rf2
|
UTSW |
18 |
42,237,227 (GRCm39) |
splice site |
probably null |
|
|
R7432:Sh3rf2
|
UTSW |
18 |
42,187,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7444:Sh3rf2
|
UTSW |
18 |
42,234,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Sh3rf2
|
UTSW |
18 |
42,237,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Sh3rf2
|
UTSW |
18 |
42,289,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7732:Sh3rf2
|
UTSW |
18 |
42,234,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Sh3rf2
|
UTSW |
18 |
42,244,235 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7927:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
|
R8053:Sh3rf2
|
UTSW |
18 |
42,286,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Sh3rf2
|
UTSW |
18 |
42,274,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8343:Sh3rf2
|
UTSW |
18 |
42,244,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9145:Sh3rf2
|
UTSW |
18 |
42,282,746 (GRCm39) |
missense |
|
|
|
R9328:Sh3rf2
|
UTSW |
18 |
42,274,161 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9570:Sh3rf2
|
UTSW |
18 |
42,272,620 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9668:Sh3rf2
|
UTSW |
18 |
42,244,347 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9676:Sh3rf2
|
UTSW |
18 |
42,282,860 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCTCGCTCCGAAAGAG -3'
(R):5'- ACCCTATCTGGAAAATGGCTGC -3'
Sequencing Primer
(F):5'- TCCGAAAGAGCCCAGGGTC -3'
(R):5'- CTGGAAAATGGCTGCTATTATCTCC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation