Incidental Mutation 'R5076:Sh3rf2'
ID |
395793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf2
|
Ensembl Gene |
ENSMUSG00000057719 |
Gene Name |
SH3 domain containing ring finger 2 |
Synonyms |
9130023G24Rik, RNF158 |
MMRRC Submission |
042665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5076 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 42186989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 36
(C36F)
|
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: C36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071896 Gene: ENSMUSG00000057719 AA Change: C36F
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: C36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074247 Gene: ENSMUSG00000057719 AA Change: C36F
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 |
|
Meta Mutation Damage Score |
0.9649 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.0%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,963,559 (GRCm39) |
I72V |
probably benign |
Het |
Aadacl3 |
G |
A |
4: 144,182,640 (GRCm39) |
P276L |
possibly damaging |
Het |
Acp6 |
T |
A |
3: 97,075,305 (GRCm39) |
S180T |
probably benign |
Het |
Adgrd1 |
A |
T |
5: 129,221,053 (GRCm39) |
R449* |
probably null |
Het |
Ak1 |
T |
C |
2: 32,523,460 (GRCm39) |
V176A |
probably damaging |
Het |
Capzb |
A |
T |
4: 139,015,125 (GRCm39) |
D226V |
possibly damaging |
Het |
Cd34 |
A |
T |
1: 194,630,338 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
C |
A |
8: 123,591,087 (GRCm39) |
D445E |
possibly damaging |
Het |
Chil4 |
A |
G |
3: 106,109,913 (GRCm39) |
F367L |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,365,132 (GRCm39) |
Y458C |
probably damaging |
Het |
Cplane2 |
A |
G |
4: 140,944,696 (GRCm39) |
I82M |
probably benign |
Het |
Ctsw |
T |
C |
19: 5,518,486 (GRCm39) |
Y9C |
probably benign |
Het |
Dhrs7 |
T |
C |
12: 72,706,255 (GRCm39) |
D50G |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,584,799 (GRCm39) |
K3177E |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,251 (GRCm39) |
F83L |
probably benign |
Het |
Eif5a2 |
G |
A |
3: 28,836,886 (GRCm39) |
V59I |
possibly damaging |
Het |
Emilin3 |
T |
A |
2: 160,751,238 (GRCm39) |
|
probably null |
Het |
Entpd8 |
A |
G |
2: 24,975,066 (GRCm39) |
S426G |
possibly damaging |
Het |
Epb41l4b |
C |
T |
4: 57,040,984 (GRCm39) |
G493D |
probably damaging |
Het |
Gm11596 |
C |
T |
11: 99,683,698 (GRCm39) |
G141R |
unknown |
Het |
Gpi-ps |
T |
G |
8: 5,690,130 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q4 |
T |
C |
17: 35,599,417 (GRCm39) |
Y167H |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
G |
6: 108,382,490 (GRCm39) |
|
probably null |
Het |
Kif2c |
A |
T |
4: 117,032,066 (GRCm39) |
|
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,096,751 (GRCm39) |
|
noncoding transcript |
Het |
Krtap9-5 |
A |
T |
11: 99,840,294 (GRCm39) |
T332S |
unknown |
Het |
Lrrc39 |
A |
T |
3: 116,373,189 (GRCm39) |
E283V |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,069,528 (GRCm39) |
S447P |
possibly damaging |
Het |
Mindy1 |
G |
A |
3: 95,202,710 (GRCm39) |
V425M |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
Muc3a |
T |
A |
5: 137,244,997 (GRCm39) |
T159S |
probably damaging |
Het |
Or10ad1b |
T |
A |
15: 98,124,642 (GRCm39) |
I295F |
probably damaging |
Het |
Or4a79 |
T |
A |
2: 89,551,745 (GRCm39) |
T237S |
probably damaging |
Het |
Or4f6 |
A |
T |
2: 111,838,937 (GRCm39) |
M198K |
probably damaging |
Het |
Pcdhga4 |
G |
A |
18: 37,818,648 (GRCm39) |
V66I |
probably benign |
Het |
Pdhx |
T |
C |
2: 102,871,422 (GRCm39) |
T203A |
probably damaging |
Het |
Pdss1 |
A |
G |
2: 22,789,929 (GRCm39) |
|
probably null |
Het |
Pdxk |
G |
T |
10: 78,286,141 (GRCm39) |
Q103K |
probably benign |
Het |
Peg3 |
A |
G |
7: 6,711,419 (GRCm39) |
C1268R |
probably damaging |
Het |
Pitpnc1 |
A |
T |
11: 107,187,093 (GRCm39) |
S77T |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,874,990 (GRCm39) |
|
probably benign |
Het |
Poc1b |
C |
T |
10: 98,943,703 (GRCm39) |
T22I |
probably damaging |
Het |
Ppfia1 |
G |
A |
7: 144,060,001 (GRCm39) |
R604W |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,680 (GRCm39) |
F189S |
probably damaging |
Het |
Rbks |
T |
A |
5: 31,807,795 (GRCm39) |
Y99* |
probably null |
Het |
Spock3 |
T |
A |
8: 63,798,889 (GRCm39) |
N303K |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,626,357 (GRCm39) |
V1198I |
probably benign |
Het |
Tcaf2 |
T |
C |
6: 42,606,401 (GRCm39) |
T518A |
probably benign |
Het |
Tmem163 |
A |
T |
1: 127,428,013 (GRCm39) |
V191D |
probably damaging |
Het |
Trappc6b |
A |
G |
12: 59,097,094 (GRCm39) |
V76A |
probably damaging |
Het |
Ube2nl |
A |
G |
7: 61,199,280 (GRCm39) |
|
noncoding transcript |
Het |
Unc5d |
C |
T |
8: 29,184,704 (GRCm39) |
V599M |
possibly damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,346 (GRCm39) |
M31L |
probably benign |
Het |
Vrtn |
C |
A |
12: 84,696,248 (GRCm39) |
Q333K |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,298,008 (GRCm39) |
F163I |
possibly damaging |
Het |
Zfyve1 |
C |
T |
12: 83,602,421 (GRCm39) |
R458H |
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 |
|
IGL02369:Sh3rf2
|
APN |
18 |
42,289,222 (GRCm39) |
nonsense |
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 |
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'- GGAGTTCTGATGCTCCCAAAAG -3'
(R):5'- CTGTTGTCCTGCAAGGTCAG -3'
Sequencing Primer
(F):5'- GTTCTGATGCTCCCAAAAGACCAG -3'
(R):5'- TCCTGCAAGGTCAGTATCCGAG -3'
|
Posted On |
2016-06-21 |