Incidental Mutation 'R3083:Smu1'
| ID |
264063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smu1
|
| Ensembl Gene |
ENSMUSG00000028409 |
| Gene Name |
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) |
| Synonyms |
SMU-1, 2600001O03Rik, 2610203K23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
40736542-40757923 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40745567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 251
(D251G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030117]
|
| AlphaFold |
Q3UKJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030117
AA Change: D251G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: D251G
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
9.95e-7 |
SMART |
|
CTLH
|
40 |
92 |
2.32e-7 |
SMART |
|
WD40
|
202 |
242 |
9.02e-7 |
SMART |
|
WD40
|
253 |
292 |
3.81e-5 |
SMART |
|
WD40
|
295 |
335 |
5.26e-8 |
SMART |
|
WD40
|
338 |
377 |
4.4e-10 |
SMART |
|
WD40
|
380 |
426 |
1.03e1 |
SMART |
|
WD40
|
428 |
470 |
2.97e0 |
SMART |
|
WD40
|
473 |
512 |
9.52e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130503
|
| Meta Mutation Damage Score |
0.4850 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,842,726 (GRCm39) |
D359G |
probably damaging |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,813,363 (GRCm39) |
N1441D |
probably benign |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm15446 |
A |
G |
5: 110,091,158 (GRCm39) |
N470S |
possibly damaging |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,802 (GRCm39) |
K13E |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Lrp1b |
A |
T |
2: 40,490,336 (GRCm39) |
M275K |
probably damaging |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,129,588 (GRCm39) |
F885S |
probably benign |
Het |
| Or12d2 |
T |
C |
17: 37,625,086 (GRCm39) |
N63S |
probably damaging |
Het |
| Or4c122 |
A |
C |
2: 89,079,345 (GRCm39) |
V231G |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,912 (GRCm39) |
V76A |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,994,772 (GRCm39) |
N1080K |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,936,466 (GRCm39) |
S10T |
probably benign |
Het |
| Rtca |
G |
A |
3: 116,301,674 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,129,981 (GRCm39) |
F1278S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,928 (GRCm39) |
D948G |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,312,587 (GRCm39) |
R586H |
probably benign |
Het |
| Tomm40l |
A |
T |
1: 171,048,780 (GRCm39) |
L78H |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,788 (GRCm39) |
S666P |
probably damaging |
Het |
|
| Other mutations in Smu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02992:Smu1
|
APN |
4 |
40,739,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03271:Smu1
|
APN |
4 |
40,738,408 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03329:Smu1
|
APN |
4 |
40,739,568 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4585001:Smu1
|
UTSW |
4 |
40,739,623 (GRCm39) |
missense |
probably benign |
|
|
R0172:Smu1
|
UTSW |
4 |
40,738,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1109:Smu1
|
UTSW |
4 |
40,755,722 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1552:Smu1
|
UTSW |
4 |
40,748,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Smu1
|
UTSW |
4 |
40,745,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Smu1
|
UTSW |
4 |
40,738,438 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2143:Smu1
|
UTSW |
4 |
40,744,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3082:Smu1
|
UTSW |
4 |
40,745,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Smu1
|
UTSW |
4 |
40,748,658 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3157:Smu1
|
UTSW |
4 |
40,754,529 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3158:Smu1
|
UTSW |
4 |
40,754,529 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3159:Smu1
|
UTSW |
4 |
40,754,529 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3409:Smu1
|
UTSW |
4 |
40,752,008 (GRCm39) |
missense |
probably benign |
|
|
R3411:Smu1
|
UTSW |
4 |
40,752,008 (GRCm39) |
missense |
probably benign |
|
|
R4581:Smu1
|
UTSW |
4 |
40,737,401 (GRCm39) |
splice site |
probably null |
|
|
R5106:Smu1
|
UTSW |
4 |
40,743,104 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7747:Smu1
|
UTSW |
4 |
40,748,600 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9029:Smu1
|
UTSW |
4 |
40,738,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Smu1
|
UTSW |
4 |
40,745,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Smu1
|
UTSW |
4 |
40,755,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9797:Smu1
|
UTSW |
4 |
40,739,538 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAATGAATGTCATGTGTACCAC -3'
(R):5'- TTCTATCAGGTGTTCATAAGGAAGC -3'
Sequencing Primer
(F):5'- GCCATCAAGTTCTACAGAGTCAGTTC -3'
(R):5'- CTGTACGGGACACAGCTCTTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation