Incidental Mutation 'R0477:Supv3l1'
ID |
41860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Supv3l1
|
Ensembl Gene |
ENSMUSG00000020079 |
Gene Name |
suppressor of var1, 3-like 1 (S. cerevisiae) |
Synonyms |
6330443E10Rik |
MMRRC Submission |
038677-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0477 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
62264988-62285517 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 62266364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 604
(T604N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020273]
|
AlphaFold |
Q80YD1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020273
AA Change: T604N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020273 Gene: ENSMUSG00000020079 AA Change: T604N
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 |
noncoding transcript
Transcript: ENSMUST00000159042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162023
|
Meta Mutation Damage Score |
0.2438 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
98% (57/58) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
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 |
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'- GCTGGAAACCCTGTGAAAACTCGG -3'
(R):5'- GCGTTAAGTAGCAATGAAACCAGCC -3'
Sequencing Primer
(F):5'- gctgtcctgagtgagagcc -3'
(R):5'- CAATGAAACCAGCCTGTCTTTTG -3'
|
Posted On |
2013-05-23 |