Incidental Mutation 'R6903:Supv3l1'
| ID |
538649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supv3l1
|
| Ensembl Gene |
ENSMUSG00000020079 |
| Gene Name |
suppressor of var1, 3-like 1 (S. cerevisiae) |
| Synonyms |
6330443E10Rik |
| MMRRC Submission |
044996-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6903 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62264988-62285517 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62277016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 251
(C251R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020273]
|
| AlphaFold |
Q80YD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020273
AA Change: C251R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: C251R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
56 |
N/A |
INTRINSIC |
|
HELICc
|
379 |
475 |
1.44e-18 |
SMART |
|
Pfam:SUV3_C
|
625 |
672 |
4e-19 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162023
AA Change: V255A
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit embryonic lethality between E9.5 and E12.5. Mice homozygous for a knock-out allele exhibit embryonic lethality between E8.5 and 9.5. Mice heterozygous for this allele produce offspring with mitochondrial defects regardless of offspring genotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,450,417 (GRCm39) |
M497V |
probably benign |
Het |
| Adnp2 |
T |
C |
18: 80,173,305 (GRCm39) |
N368S |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
| Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
| Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
| Eefsec |
C |
T |
6: 88,423,265 (GRCm39) |
G66D |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
| Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
| Nectin1 |
C |
A |
9: 43,703,179 (GRCm39) |
P146T |
possibly damaging |
Het |
| Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
| Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
| Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
| Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
| Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
| Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
| Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,479,892 (GRCm39) |
E690K |
possibly damaging |
Het |
| Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
unknown |
Het |
|
| Other mutations in Supv3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03067:Supv3l1
|
APN |
10 |
62,265,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Supv3l1
|
UTSW |
10 |
62,265,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0477:Supv3l1
|
UTSW |
10 |
62,266,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0946:Supv3l1
|
UTSW |
10 |
62,265,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Supv3l1
|
UTSW |
10 |
62,279,162 (GRCm39) |
splice site |
probably benign |
|
|
R1546:Supv3l1
|
UTSW |
10 |
62,268,225 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1941:Supv3l1
|
UTSW |
10 |
62,285,391 (GRCm39) |
missense |
probably benign |
|
|
R3916:Supv3l1
|
UTSW |
10 |
62,285,199 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5030:Supv3l1
|
UTSW |
10 |
62,266,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Supv3l1
|
UTSW |
10 |
62,282,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5051:Supv3l1
|
UTSW |
10 |
62,279,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5085:Supv3l1
|
UTSW |
10 |
62,271,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5288:Supv3l1
|
UTSW |
10 |
62,266,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5359:Supv3l1
|
UTSW |
10 |
62,268,178 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5372:Supv3l1
|
UTSW |
10 |
62,268,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5384:Supv3l1
|
UTSW |
10 |
62,266,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5385:Supv3l1
|
UTSW |
10 |
62,266,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5527:Supv3l1
|
UTSW |
10 |
62,265,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Supv3l1
|
UTSW |
10 |
62,266,371 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5713:Supv3l1
|
UTSW |
10 |
62,266,283 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6150:Supv3l1
|
UTSW |
10 |
62,271,501 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6220:Supv3l1
|
UTSW |
10 |
62,274,800 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6941:Supv3l1
|
UTSW |
10 |
62,266,365 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7187:Supv3l1
|
UTSW |
10 |
62,271,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Supv3l1
|
UTSW |
10 |
62,280,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Supv3l1
|
UTSW |
10 |
62,266,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7439:Supv3l1
|
UTSW |
10 |
62,266,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7515:Supv3l1
|
UTSW |
10 |
62,268,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Supv3l1
|
UTSW |
10 |
62,271,488 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7579:Supv3l1
|
UTSW |
10 |
62,271,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Supv3l1
|
UTSW |
10 |
62,280,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7973:Supv3l1
|
UTSW |
10 |
62,285,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Supv3l1
|
UTSW |
10 |
62,265,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8327:Supv3l1
|
UTSW |
10 |
62,277,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Supv3l1
|
UTSW |
10 |
62,268,234 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8947:Supv3l1
|
UTSW |
10 |
62,268,118 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9169:Supv3l1
|
UTSW |
10 |
62,268,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Supv3l1
|
UTSW |
10 |
62,265,411 (GRCm39) |
missense |
probably benign |
|
|
R9520:Supv3l1
|
UTSW |
10 |
62,268,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Supv3l1
|
UTSW |
10 |
62,273,287 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAAGCACAGCAAGGTTTG -3'
(R):5'- ACAACAGAGTAGCTAGCTGTGTG -3'
Sequencing Primer
(F):5'- AAGGGGTAAGTATTTAGTCACCC -3'
(R):5'- CAGAGTAGCTAGCTGTGTGTGAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation