Incidental Mutation 'R5040:Supv3l1'
| ID |
393177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supv3l1
|
| Ensembl Gene |
ENSMUSG00000020079 |
| Gene Name |
suppressor of var1, 3-like 1 (S. cerevisiae) |
| Synonyms |
6330443E10Rik |
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62264988-62285517 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62282844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 139
(V139E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020273]
[ENSMUST00000181110]
|
| AlphaFold |
Q80YD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020273
AA Change: V139E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: V139E
| 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: V138E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181110
|
| SMART Domains |
Protein: ENSMUSP00000137990
Gene: ENSMUSG00000097129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1894 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
probably benign |
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 |
|
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 |
|
R6903:Supv3l1
|
UTSW |
10 |
62,277,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGACATGGCTCAGCAAGG -3'
(R):5'- ACCAAAACGCTGATAGGGGC -3'
Sequencing Primer
(F):5'- TGACCTCCAAATGAGTGTCACGG -3'
(R):5'- CGCTGATAGGGGCTGGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation