Incidental Mutation 'R5602:Supv3l1'
ID |
439091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Supv3l1
|
Ensembl Gene |
ENSMUSG00000020079 |
Gene Name |
suppressor of var1, 3-like 1 (S. cerevisiae) |
Synonyms |
6330443E10Rik |
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62264988-62285517 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62266371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 602
(P602S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020273]
|
AlphaFold |
Q80YD1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020273
AA Change: P602S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020273 Gene: ENSMUSG00000020079 AA Change: P602S
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
possibly damaging |
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 |
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'- TAAACTTTCTACCTTGACGGAGCA -3'
(R):5'- TGTCTTTTCAAATATAGTAGGAAAGCG -3'
Sequencing Primer
(F):5'- TTTCTACCTTGACGGAGCAGAAGC -3'
(R):5'- CGTTAAGTAGCAATGAAACCAGCCTG -3'
|
Posted On |
2016-10-26 |