Incidental Mutation 'IGL03067:Supv3l1'
| ID |
409750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Supv3l1
|
| Ensembl Gene |
ENSMUSG00000020079 |
| Gene Name |
suppressor of var1, 3-like 1 (S. cerevisiae) |
| Synonyms |
6330443E10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62264988-62285517 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62265600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 647
(D647Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020273]
|
| AlphaFold |
Q80YD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020273
AA Change: D647Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: D647Y
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,900,909 (GRCm39) |
D1162E |
probably benign |
Het |
| Abhd2 |
T |
C |
7: 79,009,782 (GRCm39) |
F386L |
probably benign |
Het |
| Adamts6 |
C |
T |
13: 104,433,783 (GRCm39) |
R71W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,590,599 (GRCm39) |
Y4403C |
probably damaging |
Het |
| Aldoart1 |
A |
T |
4: 72,770,194 (GRCm39) |
C205S |
possibly damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,552,935 (GRCm39) |
A711S |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,124,794 (GRCm39) |
I496T |
probably benign |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,068 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,349,956 (GRCm39) |
V428A |
probably benign |
Het |
| Foxk2 |
C |
T |
11: 121,176,394 (GRCm39) |
T180M |
possibly damaging |
Het |
| Gm3402 |
C |
A |
5: 146,451,399 (GRCm39) |
H86N |
possibly damaging |
Het |
| Gm3543 |
A |
G |
14: 41,802,830 (GRCm39) |
|
probably benign |
Het |
| Gnai3 |
T |
C |
3: 108,025,609 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,236,642 (GRCm39) |
P395L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,339 (GRCm39) |
I2445V |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,157 (GRCm39) |
T465A |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,226,680 (GRCm39) |
L1322F |
probably damaging |
Het |
| Man1b1 |
T |
C |
2: 25,239,344 (GRCm39) |
Y536H |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,092,477 (GRCm39) |
H170R |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,648,038 (GRCm39) |
T59S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,676,878 (GRCm39) |
V1030A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,388,628 (GRCm39) |
|
probably null |
Het |
| Pilra |
T |
C |
5: 137,821,843 (GRCm39) |
Y264C |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,067,910 (GRCm39) |
V1799A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,284,238 (GRCm39) |
S649P |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,413 (GRCm39) |
M426V |
probably damaging |
Het |
| Rpl9 |
A |
G |
5: 65,548,191 (GRCm39) |
I18T |
possibly damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,837,849 (GRCm39) |
E217* |
probably null |
Het |
| Smtn |
C |
A |
11: 3,480,165 (GRCm39) |
R352L |
possibly damaging |
Het |
| Sv2a |
A |
G |
3: 96,092,498 (GRCm39) |
Y66C |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,605,272 (GRCm39) |
I107T |
probably damaging |
Het |
| Yif1a |
T |
C |
19: 5,139,813 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,801 (GRCm39) |
T176A |
possibly damaging |
Het |
|
| Other mutations in Supv3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation