Incidental Mutation 'IGL02369:Sh3rf2'
ID |
290840 |
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 # |
IGL02369
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 42289222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 681
(S681*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074247
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072008]
[ENSMUST00000074679]
|
AlphaFold |
Q8BZT2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072008
AA Change: S713*
|
SMART Domains |
Protein: ENSMUSP00000071896 Gene: ENSMUSG00000057719 AA Change: S713*
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 null
Transcript: ENSMUST00000074679
AA Change: S681*
|
SMART Domains |
Protein: ENSMUSP00000074247 Gene: ENSMUSG00000057719 AA Change: S681*
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
G |
T |
6: 39,551,678 (GRCm39) |
L148F |
probably damaging |
Het |
Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
Bach2 |
A |
G |
4: 32,579,975 (GRCm39) |
I610M |
possibly damaging |
Het |
Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,389,893 (GRCm39) |
|
probably benign |
Het |
Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
Lonrf2 |
A |
G |
1: 38,850,913 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
Tspan8 |
C |
A |
10: 115,675,782 (GRCm39) |
F149L |
probably benign |
Het |
Tspan8 |
A |
C |
10: 115,675,783 (GRCm39) |
K150Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
probably damaging |
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 |
|
IGL02563:Sh3rf2
|
APN |
18 |
42,289,207 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |