Incidental Mutation 'R1113:Sned1'
ID | 96914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sned1
|
Ensembl Gene |
ENSMUSG00000047793 |
Gene Name | sushi, nidogen and EGF-like domains 1 |
Synonyms | 6720455I24Rik, D430044C15Rik, Snep |
MMRRC Submission |
039186-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.079)
|
Stock # | R1113 (G1)
|
Quality Score | 183 |
Status |
Not validated
|
Chromosome | 1 |
Chromosomal Location | 93235841-93301065 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
G to A
at 93281654 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 830
(V830M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062202]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062202
AA Change: V830M
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050832 Gene: ENSMUSG00000047793 AA Change: V830M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
NIDO
|
103 |
260 |
2.98e-54 |
SMART |
EGF
|
271 |
309 |
3.79e-6 |
SMART |
EGF_CA
|
311 |
347 |
2.42e-13 |
SMART |
EGF
|
352 |
385 |
1.02e-6 |
SMART |
EGF_CA
|
387 |
423 |
1.91e-11 |
SMART |
EGF
|
432 |
465 |
2.96e-8 |
SMART |
EGF
|
471 |
500 |
6.02e0 |
SMART |
EGF
|
544 |
577 |
3.54e-6 |
SMART |
EGF
|
583 |
616 |
6.06e-5 |
SMART |
EGF_CA
|
619 |
655 |
2.33e-6 |
SMART |
EGF
|
660 |
693 |
1.77e-6 |
SMART |
CCP
|
698 |
751 |
2.5e-11 |
SMART |
EGF_CA
|
753 |
789 |
1.66e-11 |
SMART |
EGF_CA
|
791 |
827 |
1.38e-8 |
SMART |
EGF_CA
|
829 |
865 |
1.92e-7 |
SMART |
EGF
|
870 |
903 |
2.35e-2 |
SMART |
FN3
|
906 |
991 |
1.7e-4 |
SMART |
FN3
|
1005 |
1084 |
1.38e-4 |
SMART |
FN3
|
1104 |
1185 |
1.6e-9 |
SMART |
EGF
|
1309 |
1342 |
6.16e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163688
AA Change: V39M
|
SMART Domains |
Protein: ENSMUSP00000132455 Gene: ENSMUSG00000047793 AA Change: V39M
Domain | Start | End | E-Value | Type |
EGF_CA
|
1 |
37 |
6.7e-7 |
SMART |
EGF_CA
|
39 |
75 |
1.92e-7 |
SMART |
EGF
|
80 |
113 |
2.35e-2 |
SMART |
FN3
|
116 |
201 |
1.7e-4 |
SMART |
FN3
|
215 |
294 |
1.38e-4 |
SMART |
FN3
|
314 |
395 |
1.6e-9 |
SMART |
EGF
|
487 |
520 |
6.16e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172289
|
Meta Mutation Damage Score |
0.1152
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 93.0%
- 20x: 82.2%
|
Validation Efficiency |
|
Allele List at MGI | |
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 9,005,620 |
E1423K |
probably benign |
Het |
Angpt2 |
C |
T |
8: 18,692,118 |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,850,861 |
T301A |
probably damaging |
Het |
D730048I06Rik |
T |
C |
9: 35,789,089 |
T67A |
probably benign |
Het |
G6pc2 |
A |
T |
2: 69,220,226 |
D65V |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,417,778 |
A488T |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 133,245,815 |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,245,714 |
V210I |
probably damaging |
Het |
Otoa |
C |
A |
7: 121,125,443 |
C448* |
probably null |
Het |
Prkcg |
G |
C |
7: 3,329,106 |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,913,865 |
D345N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,051,816 |
H83R |
probably benign |
Het |
Tekt2 |
A |
T |
4: 126,324,918 |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,055,353 |
F857S |
probably damaging |
Het |
Try4 |
G |
T |
6: 41,305,374 |
Q209H |
possibly damaging |
Het |
Wdfy4 |
G |
A |
14: 32,971,738 |
S2710L |
possibly damaging |
Het |
|
Other mutations in Sned1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Sned1
|
APN |
1 |
93274169 |
splice site |
probably benign |
|
IGL00955:Sned1
|
APN |
1 |
93274403 |
missense |
probably damaging |
1.00 |
IGL01367:Sned1
|
APN |
1 |
93283214 |
missense |
probably benign |
0.32 |
IGL02116:Sned1
|
APN |
1 |
93281725 |
nonsense |
probably null |
|
IGL02195:Sned1
|
APN |
1 |
93274160 |
missense |
probably benign |
0.03 |
IGL02390:Sned1
|
APN |
1 |
93261664 |
missense |
probably benign |
|
IGL02423:Sned1
|
APN |
1 |
93283600 |
missense |
probably benign |
|
IGL02451:Sned1
|
APN |
1 |
93236208 |
splice site |
probably benign |
|
IGL02567:Sned1
|
APN |
1 |
93274347 |
missense |
probably damaging |
0.96 |
IGL03184:Sned1
|
APN |
1 |
93274668 |
missense |
probably benign |
0.01 |
IGL03328:Sned1
|
APN |
1 |
93289367 |
missense |
probably benign |
|
R0257:Sned1
|
UTSW |
1 |
93265097 |
missense |
possibly damaging |
0.75 |
R0372:Sned1
|
UTSW |
1 |
93285951 |
splice site |
probably benign |
|
R0525:Sned1
|
UTSW |
1 |
93271974 |
splice site |
probably null |
|
R0727:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R0759:Sned1
|
UTSW |
1 |
93272564 |
missense |
probably damaging |
1.00 |
R0965:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R0968:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R0969:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1006:Sned1
|
UTSW |
1 |
93256392 |
missense |
probably damaging |
1.00 |
R1068:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1069:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1070:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1112:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1114:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1115:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1118:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1119:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1144:Sned1
|
UTSW |
1 |
93280576 |
missense |
probably damaging |
0.98 |
R1228:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1230:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1231:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1313:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1313:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1340:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1382:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1383:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1394:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1395:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1397:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1414:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1430:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1432:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1473:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1503:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1563:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1565:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1689:Sned1
|
UTSW |
1 |
93283372 |
missense |
probably damaging |
0.99 |
R1695:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1734:Sned1
|
UTSW |
1 |
93259768 |
missense |
probably damaging |
1.00 |
R1764:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1767:Sned1
|
UTSW |
1 |
93281654 |
missense |
possibly damaging |
0.89 |
R1896:Sned1
|
UTSW |
1 |
93265047 |
missense |
probably benign |
0.16 |
R1916:Sned1
|
UTSW |
1 |
93274162 |
missense |
probably null |
1.00 |
R1945:Sned1
|
UTSW |
1 |
93271238 |
missense |
probably benign |
0.01 |
R1972:Sned1
|
UTSW |
1 |
93265073 |
missense |
probably damaging |
1.00 |
R1973:Sned1
|
UTSW |
1 |
93265073 |
missense |
probably damaging |
1.00 |
R2143:Sned1
|
UTSW |
1 |
93271684 |
missense |
probably damaging |
1.00 |
R2144:Sned1
|
UTSW |
1 |
93271684 |
missense |
probably damaging |
1.00 |
R2145:Sned1
|
UTSW |
1 |
93271684 |
missense |
probably damaging |
1.00 |
R2153:Sned1
|
UTSW |
1 |
93274657 |
missense |
probably benign |
0.01 |
R2273:Sned1
|
UTSW |
1 |
93281642 |
splice site |
probably null |
|
R2274:Sned1
|
UTSW |
1 |
93281642 |
splice site |
probably null |
|
R2275:Sned1
|
UTSW |
1 |
93281642 |
splice site |
probably null |
|
R2340:Sned1
|
UTSW |
1 |
93256452 |
missense |
probably damaging |
0.98 |
R3237:Sned1
|
UTSW |
1 |
93259003 |
missense |
probably benign |
0.21 |
R3747:Sned1
|
UTSW |
1 |
93261751 |
missense |
probably damaging |
1.00 |
R3879:Sned1
|
UTSW |
1 |
93265030 |
splice site |
probably benign |
|
R4281:Sned1
|
UTSW |
1 |
93285855 |
nonsense |
probably null |
|
R4282:Sned1
|
UTSW |
1 |
93285855 |
nonsense |
probably null |
|
R4356:Sned1
|
UTSW |
1 |
93265391 |
splice site |
probably null |
|
R4358:Sned1
|
UTSW |
1 |
93274659 |
missense |
probably benign |
0.01 |
R4677:Sned1
|
UTSW |
1 |
93296297 |
unclassified |
probably benign |
|
R5291:Sned1
|
UTSW |
1 |
93295724 |
missense |
possibly damaging |
0.80 |
R5340:Sned1
|
UTSW |
1 |
93282757 |
missense |
probably benign |
0.09 |
R5542:Sned1
|
UTSW |
1 |
93271602 |
missense |
probably benign |
|
R5582:Sned1
|
UTSW |
1 |
93282361 |
missense |
probably damaging |
1.00 |
R5874:Sned1
|
UTSW |
1 |
93265345 |
missense |
probably damaging |
1.00 |
R6159:Sned1
|
UTSW |
1 |
93282937 |
missense |
probably benign |
0.00 |
R6175:Sned1
|
UTSW |
1 |
93275474 |
splice site |
probably null |
|
R6445:Sned1
|
UTSW |
1 |
93283596 |
missense |
possibly damaging |
0.89 |
R6631:Sned1
|
UTSW |
1 |
93281652 |
missense |
probably damaging |
1.00 |
R7018:Sned1
|
UTSW |
1 |
93284421 |
missense |
probably damaging |
1.00 |
R7035:Sned1
|
UTSW |
1 |
93262130 |
missense |
probably damaging |
1.00 |
R7047:Sned1
|
UTSW |
1 |
93285818 |
missense |
possibly damaging |
0.51 |
R7347:Sned1
|
UTSW |
1 |
93281736 |
missense |
probably damaging |
1.00 |
R7427:Sned1
|
UTSW |
1 |
93289358 |
missense |
probably benign |
0.11 |
R7581:Sned1
|
UTSW |
1 |
93256545 |
missense |
probably benign |
0.00 |
R7679:Sned1
|
UTSW |
1 |
93236038 |
missense |
unknown |
|
R7899:Sned1
|
UTSW |
1 |
93274082 |
missense |
probably benign |
0.04 |
R8093:Sned1
|
UTSW |
1 |
93274665 |
missense |
possibly damaging |
0.82 |
R8124:Sned1
|
UTSW |
1 |
93282989 |
critical splice donor site |
probably null |
|
R8489:Sned1
|
UTSW |
1 |
93283256 |
nonsense |
probably null |
|
X0025:Sned1
|
UTSW |
1 |
93261687 |
missense |
probably damaging |
1.00 |
Z1176:Sned1
|
UTSW |
1 |
93259042 |
missense |
probably damaging |
1.00 |
Z1177:Sned1
|
UTSW |
1 |
93285820 |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATCCTCTTGCTGGACAAGCTAC -3'
(R):5'- TCCTGAAAAGCCTGACCAAGTGTG -3'
Sequencing Primer
(F):5'- TTGCTGGACAAGCTACTCAGAG -3'
(R):5'- GCCTATCCAGGGACAACAGAG -3'
|
Posted On | 2014-01-05 |