Incidental Mutation 'IGL02563:Sh3rf2'
| ID |
298731 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42289207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 676
(D676G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072008]
[ENSMUST00000074679]
|
| AlphaFold |
Q8BZT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072008
AA Change: D708G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: D708G
| 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 damaging
Transcript: ENSMUST00000074679
AA Change: D676G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: D676G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132681
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,410 (GRCm39) |
V97E |
probably damaging |
Het |
| Abhd16a |
C |
T |
17: 35,320,221 (GRCm39) |
T362M |
probably damaging |
Het |
| Adam23 |
T |
G |
1: 63,607,136 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
A |
9: 107,970,908 (GRCm39) |
R87L |
possibly damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,717 (GRCm39) |
M490K |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,732,433 (GRCm39) |
V251D |
probably benign |
Het |
| Cog8 |
C |
T |
8: 107,783,055 (GRCm39) |
R78Q |
possibly damaging |
Het |
| Cyld |
T |
C |
8: 89,462,522 (GRCm39) |
I701T |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,811,047 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,205,931 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,574,293 (GRCm39) |
V2D |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,889,628 (GRCm39) |
S70C |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,035,700 (GRCm39) |
Q3415R |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,163,498 (GRCm39) |
|
probably benign |
Het |
| Fam114a1 |
G |
A |
5: 65,163,491 (GRCm39) |
|
probably null |
Het |
| Fam20a |
T |
A |
11: 109,568,620 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Fancm |
T |
A |
12: 65,139,236 (GRCm39) |
L374H |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,317 (GRCm39) |
E2222K |
probably benign |
Het |
| Fgf17 |
G |
A |
14: 70,874,178 (GRCm39) |
Q204* |
probably null |
Het |
| Gap43 |
T |
C |
16: 42,112,495 (GRCm39) |
T89A |
probably benign |
Het |
| Gm5069 |
A |
G |
1: 180,155,464 (GRCm39) |
|
probably benign |
Het |
| Gm9913 |
C |
T |
2: 125,348,254 (GRCm39) |
|
probably benign |
Het |
| Gpr174 |
T |
C |
X: 106,336,854 (GRCm39) |
L222P |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,857 (GRCm39) |
Q619L |
possibly damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,830,233 (GRCm39) |
D204G |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,601,580 (GRCm39) |
V317A |
probably benign |
Het |
| Keg1 |
A |
T |
19: 12,696,521 (GRCm39) |
N288I |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,935,684 (GRCm39) |
V234I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,387,555 (GRCm39) |
D3365V |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,190,894 (GRCm39) |
|
probably null |
Het |
| Mta2 |
T |
C |
19: 8,925,415 (GRCm39) |
I348T |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,640,677 (GRCm39) |
I1015V |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,872 (GRCm39) |
S113F |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,162 (GRCm39) |
K303R |
probably benign |
Het |
| Pabpn1l |
T |
A |
8: 123,347,122 (GRCm39) |
T228S |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,349,674 (GRCm39) |
*206W |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,126 (GRCm39) |
T401A |
probably benign |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,761 (GRCm39) |
D384E |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,967,077 (GRCm39) |
V122A |
probably damaging |
Het |
| Scn4b |
T |
C |
9: 45,057,980 (GRCm39) |
L24P |
probably damaging |
Het |
| Sec22c |
T |
C |
9: 121,513,716 (GRCm39) |
|
probably benign |
Het |
| Slc20a1 |
A |
G |
2: 129,049,604 (GRCm39) |
T289A |
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,418 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tgfbr2 |
T |
A |
9: 115,959,066 (GRCm39) |
N116I |
probably benign |
Het |
| Tmem196 |
A |
G |
12: 119,910,209 (GRCm39) |
M1V |
probably null |
Het |
| Tnn |
A |
G |
1: 159,942,123 (GRCm39) |
V1125A |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,834,243 (GRCm39) |
M265K |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,050,362 (GRCm39) |
|
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,184 (GRCm39) |
V365E |
possibly damaging |
Het |
| Zp3 |
T |
A |
5: 136,016,464 (GRCm39) |
|
probably null |
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 |
|
|
BB004:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation