Incidental Mutation 'R7495:Stt3a'
| ID |
581038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stt3a
|
| Ensembl Gene |
ENSMUSG00000032116 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) |
| Synonyms |
Itm1 |
| MMRRC Submission |
045568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R7495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36659235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 368
(V368A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
|
| AlphaFold |
P46978 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120381
AA Change: V368A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: V368A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
17 |
484 |
2e-163 |
PFAM |
|
Pfam:PMT_2
|
97 |
257 |
9.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135934
|
| SMART Domains |
Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
1 |
112 |
1.8e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,915,871 (GRCm39) |
E1251G |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,913,963 (GRCm39) |
|
probably null |
Het |
| Arap2 |
C |
T |
5: 62,833,893 (GRCm39) |
S858N |
possibly damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,092 (GRCm39) |
F301L |
probably damaging |
Het |
| Catip |
T |
C |
1: 74,401,851 (GRCm39) |
W9R |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,183,112 (GRCm39) |
|
probably null |
Het |
| Cpq |
C |
T |
15: 33,302,586 (GRCm39) |
R246C |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,816,239 (GRCm39) |
S1067P |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,967,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,502,044 (GRCm39) |
Q508R |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,424,258 (GRCm39) |
N3060D |
probably benign |
Het |
| Fstl5 |
A |
G |
3: 76,615,099 (GRCm39) |
Y720C |
possibly damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,637 (GRCm39) |
S89P |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,704,346 (GRCm39) |
G900E |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,634 (GRCm39) |
D305A |
probably benign |
Het |
| Htt |
C |
T |
5: 34,968,821 (GRCm39) |
S435L |
probably benign |
Het |
| Ice2 |
G |
T |
9: 69,323,511 (GRCm39) |
V669L |
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,500 (GRCm39) |
V191I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,152,194 (GRCm39) |
K993R |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,622 (GRCm39) |
Y536H |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,171 (GRCm39) |
D94G |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,259,765 (GRCm39) |
D546G |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,813,837 (GRCm39) |
T847A |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,389,994 (GRCm39) |
N238K |
probably benign |
Het |
| Pfkfb3 |
A |
C |
2: 11,487,312 (GRCm39) |
I366S |
probably damaging |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,177,353 (GRCm39) |
Q1018K |
probably benign |
Het |
| Rxfp3 |
C |
A |
15: 11,036,011 (GRCm39) |
G454C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,200 (GRCm39) |
V223A |
probably damaging |
Het |
| Sema4c |
C |
A |
1: 36,589,774 (GRCm39) |
V527L |
probably benign |
Het |
| Slk |
C |
A |
19: 47,627,417 (GRCm39) |
P1182T |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,875,160 (GRCm39) |
F601L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,299 (GRCm39) |
D34229G |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,271 (GRCm39) |
H608R |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,826 (GRCm39) |
C635* |
probably null |
Het |
| Zfp473 |
A |
T |
7: 44,387,368 (GRCm39) |
F95Y |
probably benign |
Het |
| Zfp984 |
A |
C |
4: 147,839,287 (GRCm39) |
S521R |
possibly damaging |
Het |
|
| Other mutations in Stt3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01866:Stt3a
|
APN |
9 |
36,645,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02237:Stt3a
|
APN |
9 |
36,660,933 (GRCm39) |
nonsense |
probably null |
|
|
IGL02644:Stt3a
|
APN |
9 |
36,663,649 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02710:Stt3a
|
APN |
9 |
36,670,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03085:Stt3a
|
APN |
9 |
36,644,266 (GRCm39) |
intron |
probably benign |
|
|
IGL03180:Stt3a
|
APN |
9 |
36,670,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03295:Stt3a
|
APN |
9 |
36,674,627 (GRCm39) |
splice site |
probably null |
|
|
Scramble
|
UTSW |
9 |
36,646,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Western
|
UTSW |
9 |
36,646,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Stt3a
|
UTSW |
9 |
36,660,841 (GRCm39) |
intron |
probably benign |
|
|
R0731:Stt3a
|
UTSW |
9 |
36,646,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Stt3a
|
UTSW |
9 |
36,662,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Stt3a
|
UTSW |
9 |
36,654,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1846:Stt3a
|
UTSW |
9 |
36,674,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Stt3a
|
UTSW |
9 |
36,659,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Stt3a
|
UTSW |
9 |
36,660,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2317:Stt3a
|
UTSW |
9 |
36,659,371 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3689:Stt3a
|
UTSW |
9 |
36,670,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Stt3a
|
UTSW |
9 |
36,674,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Stt3a
|
UTSW |
9 |
36,653,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Stt3a
|
UTSW |
9 |
36,646,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Stt3a
|
UTSW |
9 |
36,644,225 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4736:Stt3a
|
UTSW |
9 |
36,661,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5145:Stt3a
|
UTSW |
9 |
36,646,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Stt3a
|
UTSW |
9 |
36,657,891 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5665:Stt3a
|
UTSW |
9 |
36,670,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Stt3a
|
UTSW |
9 |
36,663,696 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6341:Stt3a
|
UTSW |
9 |
36,662,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Stt3a
|
UTSW |
9 |
36,653,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6859:Stt3a
|
UTSW |
9 |
36,646,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Stt3a
|
UTSW |
9 |
36,659,266 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7745:Stt3a
|
UTSW |
9 |
36,662,535 (GRCm39) |
nonsense |
probably null |
|
|
R8007:Stt3a
|
UTSW |
9 |
36,653,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Stt3a
|
UTSW |
9 |
36,662,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Stt3a
|
UTSW |
9 |
36,670,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9552:Stt3a
|
UTSW |
9 |
36,645,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9622:Stt3a
|
UTSW |
9 |
36,661,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9784:Stt3a
|
UTSW |
9 |
36,670,079 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGAAGAAAACTGAGTTGGGT -3'
(R):5'- AGCATTTTAGCTTAGTGTTTTAGGGA -3'
Sequencing Primer
(F):5'- TCTGCAGAGAACTGTACACATGTG -3'
(R):5'- ACAGGGCGTTTCTACTCT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation