Incidental Mutation 'R3158:Smu1'
| ID |
263578 |
| 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 |
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40736542-40757923 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40754529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 123
(R123S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030117]
|
| AlphaFold |
Q3UKJ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030117
AA Change: R123S
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: R123S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150574
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
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 |
|
R3083: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 |
|
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'- CTCCACACATGAATGCCTGC -3'
(R):5'- TGACCCTAGCACAGACATCG -3'
Sequencing Primer
(F):5'- TGAATGCCTGCCCAAACAC -3'
(R):5'- GCGGCCTAGTCTACATAGTAAGTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation