Incidental Mutation 'R3036:Teddm1a'
| ID |
263361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Teddm1a
|
| Ensembl Gene |
ENSMUSG00000047053 |
| Gene Name |
transmembrane epididymal protein 1A |
| Synonyms |
e9-1, Teddm1, Epdd1 |
| MMRRC Submission |
040552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R3036 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153767488-153768804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153767656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 40
(Y40C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050660]
[ENSMUST00000123490]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050660
AA Change: Y40C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062098
Gene: ENSMUSG00000047053
AA Change: Y40C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
Pfam:DUF716
|
126 |
246 |
9.4e-28 |
PFAM |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123490
|
| SMART Domains |
Protein: ENSMUSP00000115023
Gene: ENSMUSG00000045968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF716
|
71 |
195 |
6.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194459
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg10 |
A |
G |
13: 91,189,017 (GRCm39) |
S98P |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,182 (GRCm39) |
Y189H |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,258 (GRCm39) |
I143V |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,552,323 (GRCm39) |
V90A |
probably benign |
Het |
| Kcnk18 |
T |
A |
19: 59,223,494 (GRCm39) |
V213D |
probably benign |
Het |
| Ly6f |
T |
C |
15: 75,140,636 (GRCm39) |
C20R |
probably damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,750,013 (GRCm39) |
C4399R |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,346,059 (GRCm39) |
T274A |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,064,070 (GRCm39) |
S561P |
possibly damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,225 (GRCm39) |
S155P |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Sumf1 |
G |
A |
6: 108,130,152 (GRCm39) |
A214V |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,966,167 (GRCm39) |
G496S |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,730,960 (GRCm39) |
|
probably benign |
Het |
| Uty |
G |
A |
Y: 1,099,671 (GRCm39) |
R1112* |
probably null |
Het |
|
| Other mutations in Teddm1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02394:Teddm1a
|
APN |
1 |
153,767,545 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03224:Teddm1a
|
APN |
1 |
153,767,763 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0279:Teddm1a
|
UTSW |
1 |
153,768,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1108:Teddm1a
|
UTSW |
1 |
153,768,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Teddm1a
|
UTSW |
1 |
153,768,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Teddm1a
|
UTSW |
1 |
153,768,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Teddm1a
|
UTSW |
1 |
153,768,382 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4967:Teddm1a
|
UTSW |
1 |
153,767,979 (GRCm39) |
nonsense |
probably null |
|
|
R5260:Teddm1a
|
UTSW |
1 |
153,767,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6114:Teddm1a
|
UTSW |
1 |
153,767,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6559:Teddm1a
|
UTSW |
1 |
153,768,111 (GRCm39) |
missense |
probably benign |
|
|
R7030:Teddm1a
|
UTSW |
1 |
153,768,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Teddm1a
|
UTSW |
1 |
153,767,772 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGCCCAGACCTTGC -3'
(R):5'- TTCTACACAGCCATCAAGGG -3'
Sequencing Primer
(F):5'- AGACCTTGCAGCCTGTGTATC -3'
(R):5'- AACATGGTGAGGTGCTGCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation