Incidental Mutation 'R3158:Sectm1a'
| ID |
263595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sectm1a
|
| Ensembl Gene |
ENSMUSG00000025165 |
| Gene Name |
secreted and transmembrane 1A |
| Synonyms |
|
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120958233-120972046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120959603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 175
(I175T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026162]
[ENSMUST00000100126]
[ENSMUST00000106119]
[ENSMUST00000106120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026162
AA Change: I175T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165
AA Change: I175T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Blast:IG
|
39 |
133 |
2e-64 |
BLAST |
|
SCOP:d1biha2
|
42 |
114 |
3e-3 |
SMART |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100126
|
| SMART Domains |
Protein: ENSMUSP00000097702
Gene: ENSMUSG00000025165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106119
AA Change: I72T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165
AA Change: I72T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106120
AA Change: I157T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101726
Gene: ENSMUSG00000025165
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Blast:IG
|
39 |
133 |
2e-64 |
BLAST |
|
SCOP:d1biha2
|
42 |
114 |
2e-3 |
SMART |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149917
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
Het |
|
| Other mutations in Sectm1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01664:Sectm1a
|
APN |
11 |
120,959,870 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0571:Sectm1a
|
UTSW |
11 |
120,959,928 (GRCm39) |
intron |
probably benign |
|
|
R1987:Sectm1a
|
UTSW |
11 |
120,960,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Sectm1a
|
UTSW |
11 |
120,960,408 (GRCm39) |
splice site |
probably benign |
|
|
R3157:Sectm1a
|
UTSW |
11 |
120,959,603 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4463:Sectm1a
|
UTSW |
11 |
120,960,477 (GRCm39) |
missense |
probably benign |
|
|
R4664:Sectm1a
|
UTSW |
11 |
120,960,552 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7241:Sectm1a
|
UTSW |
11 |
120,960,708 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7418:Sectm1a
|
UTSW |
11 |
120,960,119 (GRCm39) |
splice site |
probably null |
|
|
R7712:Sectm1a
|
UTSW |
11 |
120,959,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8990:Sectm1a
|
UTSW |
11 |
120,960,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Sectm1a
|
UTSW |
11 |
120,960,569 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9200:Sectm1a
|
UTSW |
11 |
120,960,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Sectm1a
|
UTSW |
11 |
120,960,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGTGGCAGAACGCAGG -3'
(R):5'- AGGTTATGCATTCCAGCCG -3'
Sequencing Primer
(F):5'- GGCTCACCCCAAAGCAGTTG -3'
(R):5'- TGATGCCATGGAGCCGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation