Incidental Mutation 'R6621:Sun3'
| ID |
524454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun3
|
| Ensembl Gene |
ENSMUSG00000040985 |
| Gene Name |
Sad1 and UNC84 domain containing 3 |
| Synonyms |
Sunc1, D630047F21Rik |
| MMRRC Submission |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
8966054-8998991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8966242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 320
(T320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043377]
[ENSMUST00000102909]
|
| AlphaFold |
Q5SS91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043377
AA Change: T320S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: T320S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
182 |
316 |
3.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102909
AA Change: T260S
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: T260S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sad1_UNC
|
122 |
256 |
3.2e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,162 (GRCm39) |
T30M |
possibly damaging |
Het |
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,472 (GRCm39) |
F615L |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,182,484 (GRCm39) |
D599V |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Manea |
T |
C |
4: 26,340,363 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,122 (GRCm39) |
V251A |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
probably damaging |
Het |
|
| Other mutations in Sun3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Sun3
|
APN |
11 |
8,973,341 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01473:Sun3
|
APN |
11 |
8,979,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01578:Sun3
|
APN |
11 |
8,979,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03340:Sun3
|
APN |
11 |
8,973,285 (GRCm39) |
splice site |
probably benign |
|
|
R1944:Sun3
|
UTSW |
11 |
8,988,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1945:Sun3
|
UTSW |
11 |
8,988,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2233:Sun3
|
UTSW |
11 |
8,973,371 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Sun3
|
UTSW |
11 |
8,966,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Sun3
|
UTSW |
11 |
8,988,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Sun3
|
UTSW |
11 |
8,988,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4975:Sun3
|
UTSW |
11 |
8,988,311 (GRCm39) |
nonsense |
probably null |
|
|
R5022:Sun3
|
UTSW |
11 |
8,988,314 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5134:Sun3
|
UTSW |
11 |
8,988,287 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5163:Sun3
|
UTSW |
11 |
8,973,295 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5358:Sun3
|
UTSW |
11 |
8,981,496 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5668:Sun3
|
UTSW |
11 |
8,981,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7442:Sun3
|
UTSW |
11 |
8,981,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8022:Sun3
|
UTSW |
11 |
8,973,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Sun3
|
UTSW |
11 |
8,979,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9130:Sun3
|
UTSW |
11 |
8,968,170 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9454:Sun3
|
UTSW |
11 |
8,988,281 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACGCTCAAGGTGAACTAC -3'
(R):5'- GGAATTCATTCAGCATTCAGAGGAAC -3'
Sequencing Primer
(F):5'- AATGAGTTTGGGGTTTCCC -3'
(R):5'- CAGCATTCAGAGGAACCTTTATAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation