Incidental Mutation 'R9668:Sh3rf2'
| ID |
727961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf2
|
| Ensembl Gene |
ENSMUSG00000057719 |
| Gene Name |
SH3 domain containing ring finger 2 |
| Synonyms |
9130023G24Rik, RNF158 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42053667-42158960 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42111282 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 303
(M303K)
|
| 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: M303K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: M303K
| 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: M271K
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: M271K
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,198,311 (GRCm38) |
Y60* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,615,137 (GRCm38) |
|
probably null |
Het |
| Adamts17 |
G |
A |
7: 67,147,690 (GRCm38) |
V1052I |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,477,768 (GRCm38) |
E42V |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,610,842 (GRCm38) |
|
probably null |
Het |
| Atp5f1 |
C |
T |
3: 105,956,040 (GRCm38) |
V27I |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,870,218 (GRCm38) |
S494P |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 33,846,139 (GRCm38) |
C82Y |
probably damaging |
Het |
| Cdc16 |
T |
A |
8: 13,767,552 (GRCm38) |
S288T |
possibly damaging |
Het |
| Chrne |
A |
G |
11: 70,616,953 (GRCm38) |
|
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,639,678 (GRCm38) |
Q2291* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,174,490 (GRCm38) |
S794G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,211,758 (GRCm38) |
D908E |
probably benign |
Het |
| Dpf1 |
C |
T |
7: 29,309,659 (GRCm38) |
Q70* |
probably null |
Het |
| Fam227a |
A |
T |
15: 79,642,243 (GRCm38) |
N129K |
probably benign |
Het |
| Fcho2 |
T |
A |
13: 98,777,457 (GRCm38) |
I211F |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,247,575 (GRCm38) |
D167G |
probably benign |
Het |
| Flt3 |
G |
A |
5: 147,356,884 (GRCm38) |
P461S |
probably benign |
Het |
| Fry |
G |
T |
5: 150,358,853 (GRCm38) |
A314S |
probably damaging |
Het |
| Gm6309 |
A |
G |
5: 146,168,216 (GRCm38) |
S296P |
probably benign |
Het |
| Gmppb |
T |
G |
9: 108,051,163 (GRCm38) |
V291G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,743,741 (GRCm38) |
S1207R |
probably benign |
Het |
| Iars |
C |
T |
13: 49,687,409 (GRCm38) |
P6L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 943,075 (GRCm38) |
S1519R |
possibly damaging |
Het |
| Kpna2 |
G |
A |
11: 106,990,715 (GRCm38) |
T363I |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,185,970 (GRCm38) |
H1886Q |
|
Het |
| Mettl5 |
C |
T |
2: 69,881,379 (GRCm38) |
D48N |
probably benign |
Het |
| Mfsd4a |
C |
T |
1: 132,041,890 (GRCm38) |
G442S |
probably damaging |
Het |
| Mief2 |
A |
G |
11: 60,731,248 (GRCm38) |
T215A |
probably damaging |
Het |
| Myt1 |
C |
T |
2: 181,810,342 (GRCm38) |
T824I |
probably damaging |
Het |
| Naprt |
C |
A |
15: 75,893,432 (GRCm38) |
V148L |
possibly damaging |
Het |
| Nckap1l |
C |
T |
15: 103,473,850 (GRCm38) |
R491C |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,251,211 (GRCm38) |
M321T |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,774,478 (GRCm38) |
I355N |
possibly damaging |
Het |
| Olfr1253 |
T |
G |
2: 89,752,292 (GRCm38) |
I179L |
probably benign |
Het |
| Olfr1277 |
T |
G |
2: 111,269,942 (GRCm38) |
I142L |
probably benign |
Het |
| Olfr248 |
A |
T |
1: 174,391,332 (GRCm38) |
N88Y |
probably benign |
Het |
| Olfr364-ps1 |
T |
G |
2: 37,146,506 (GRCm38) |
M98R |
probably damaging |
Het |
| Olfr388-ps1 |
A |
G |
11: 73,724,832 (GRCm38) |
I64T |
probably benign |
Het |
| Olfr418 |
G |
A |
1: 173,270,616 (GRCm38) |
G147D |
possibly damaging |
Het |
| Pccb |
T |
C |
9: 100,994,581 (GRCm38) |
D320G |
possibly damaging |
Het |
| Pcdhgb6 |
A |
T |
18: 37,742,508 (GRCm38) |
I90L |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 70,768,815 (GRCm38) |
S682P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Plagl1 |
A |
G |
10: 13,128,722 (GRCm38) |
Q578R |
unknown |
Het |
| Ppp1r42 |
A |
G |
1: 10,003,338 (GRCm38) |
I9T |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,894,291 (GRCm38) |
I315K |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,608,406 (GRCm38) |
L260P |
probably damaging |
Het |
| Selp |
A |
T |
1: 164,141,406 (GRCm38) |
H525L |
possibly damaging |
Het |
| Shprh |
A |
T |
10: 11,206,332 (GRCm38) |
I1549F |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 95,844,144 (GRCm38) |
A244D |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,902,957 (GRCm38) |
T63K |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,932,209 (GRCm38) |
S962P |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,826,932 (GRCm38) |
I133V |
probably damaging |
Het |
| Tars |
T |
A |
15: 11,394,360 (GRCm38) |
K64* |
probably null |
Het |
| Tcaf3 |
A |
T |
6: 42,589,702 (GRCm38) |
W818R |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,323,651 (GRCm38) |
R207H |
probably damaging |
Het |
| Tldc1 |
T |
C |
8: 119,761,775 (GRCm38) |
E436G |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,665,435 (GRCm38) |
E43A |
probably benign |
Het |
| Trim72 |
C |
A |
7: 128,009,920 (GRCm38) |
A298E |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,346,213 (GRCm38) |
|
probably null |
Het |
| Zfp707 |
C |
A |
15: 75,975,236 (GRCm38) |
F378L |
possibly damaging |
Het |
| Zfp839 |
G |
A |
12: 110,855,846 (GRCm38) |
A365T |
probably damaging |
Het |
|
| Other mutations in Sh3rf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Sh3rf2
|
APN |
18 |
42,111,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01012:Sh3rf2
|
APN |
18 |
42,054,192 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01286:Sh3rf2
|
APN |
18 |
42,139,611 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02369:Sh3rf2
|
APN |
18 |
42,156,157 (GRCm38) |
nonsense |
probably null |
|
|
IGL02563:Sh3rf2
|
APN |
18 |
42,156,142 (GRCm38) |
missense |
probably damaging |
0.99 |
|
BB004:Sh3rf2
|
UTSW |
18 |
42,111,422 (GRCm38) |
missense |
probably benign |
|
|
BB014:Sh3rf2
|
UTSW |
18 |
42,111,422 (GRCm38) |
missense |
probably benign |
|
|
PIT4445001:Sh3rf2
|
UTSW |
18 |
42,153,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0141:Sh3rf2
|
UTSW |
18 |
42,156,057 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0270:Sh3rf2
|
UTSW |
18 |
42,104,081 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1447:Sh3rf2
|
UTSW |
18 |
42,101,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1491:Sh3rf2
|
UTSW |
18 |
42,053,939 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1539:Sh3rf2
|
UTSW |
18 |
42,149,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1595:Sh3rf2
|
UTSW |
18 |
42,111,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1749:Sh3rf2
|
UTSW |
18 |
42,153,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1864:Sh3rf2
|
UTSW |
18 |
42,053,981 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1942:Sh3rf2
|
UTSW |
18 |
42,149,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1998:Sh3rf2
|
UTSW |
18 |
42,141,083 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2331:Sh3rf2
|
UTSW |
18 |
42,053,863 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2680:Sh3rf2
|
UTSW |
18 |
42,101,650 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2938:Sh3rf2
|
UTSW |
18 |
42,149,724 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2940:Sh3rf2
|
UTSW |
18 |
42,111,440 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3753:Sh3rf2
|
UTSW |
18 |
42,111,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3861:Sh3rf2
|
UTSW |
18 |
42,153,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4322:Sh3rf2
|
UTSW |
18 |
42,111,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5076:Sh3rf2
|
UTSW |
18 |
42,053,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5169:Sh3rf2
|
UTSW |
18 |
42,153,061 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5228:Sh3rf2
|
UTSW |
18 |
42,153,181 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5437:Sh3rf2
|
UTSW |
18 |
42,141,014 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5792:Sh3rf2
|
UTSW |
18 |
42,111,138 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5820:Sh3rf2
|
UTSW |
18 |
42,141,047 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6159:Sh3rf2
|
UTSW |
18 |
42,156,135 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6366:Sh3rf2
|
UTSW |
18 |
42,153,065 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6640:Sh3rf2
|
UTSW |
18 |
42,101,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6897:Sh3rf2
|
UTSW |
18 |
42,101,605 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6995:Sh3rf2
|
UTSW |
18 |
42,101,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7097:Sh3rf2
|
UTSW |
18 |
42,104,162 (GRCm38) |
splice site |
probably null |
|
|
R7122:Sh3rf2
|
UTSW |
18 |
42,104,162 (GRCm38) |
splice site |
probably null |
|
|
R7432:Sh3rf2
|
UTSW |
18 |
42,054,026 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7444:Sh3rf2
|
UTSW |
18 |
42,101,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7654:Sh3rf2
|
UTSW |
18 |
42,104,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7703:Sh3rf2
|
UTSW |
18 |
42,156,136 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7732:Sh3rf2
|
UTSW |
18 |
42,101,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7835:Sh3rf2
|
UTSW |
18 |
42,111,170 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7927:Sh3rf2
|
UTSW |
18 |
42,111,422 (GRCm38) |
missense |
probably benign |
|
|
R8053:Sh3rf2
|
UTSW |
18 |
42,153,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8144:Sh3rf2
|
UTSW |
18 |
42,141,059 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8343:Sh3rf2
|
UTSW |
18 |
42,111,428 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9145:Sh3rf2
|
UTSW |
18 |
42,149,681 (GRCm38) |
missense |
|
|
|
R9328:Sh3rf2
|
UTSW |
18 |
42,141,096 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9570:Sh3rf2
|
UTSW |
18 |
42,139,555 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9676:Sh3rf2
|
UTSW |
18 |
42,149,795 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTATCCTTGCAGCCAAACGTC -3'
(R):5'- ATAGTGCTTAGGACGTGGTGAC -3'
Sequencing Primer
(F):5'- GCCAAACGTCTCGGCAAG -3'
(R):5'- GTGACGCATTCTTGCCTAGTGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation