Incidental Mutation 'R6559:Teddm1a'
| ID |
521933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Teddm1a
|
| Ensembl Gene |
ENSMUSG00000047053 |
| Gene Name |
transmembrane epididymal protein 1A |
| Synonyms |
e9-1, Teddm1, Epdd1 |
| MMRRC Submission |
044683-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R6559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153767488-153768804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153768111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 192
(I192F)
|
| 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: I192F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062098
Gene: ENSMUSG00000047053
AA Change: I192F
| 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: ENSMUST00000190620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194459
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
C |
T |
4: 109,363,002 (GRCm39) |
V106I |
possibly damaging |
Het |
| Actn4 |
T |
C |
7: 28,606,461 (GRCm39) |
K284R |
possibly damaging |
Het |
| Adam20 |
G |
C |
8: 41,249,329 (GRCm39) |
E480Q |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,916,696 (GRCm39) |
T275A |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,501 (GRCm39) |
I1378T |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,842,356 (GRCm39) |
I1296T |
possibly damaging |
Het |
| Fbf1 |
G |
A |
11: 116,046,272 (GRCm39) |
T193M |
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,298,560 (GRCm39) |
I352V |
probably benign |
Het |
| Ifit3 |
T |
C |
19: 34,564,514 (GRCm39) |
F20S |
probably damaging |
Het |
| Klhl3 |
G |
A |
13: 58,164,290 (GRCm39) |
R431W |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,337,982 (GRCm39) |
V464A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,490,217 (GRCm39) |
I120M |
probably damaging |
Het |
| Mst1r |
A |
G |
9: 107,785,470 (GRCm39) |
N376S |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,220,841 (GRCm39) |
|
probably null |
Het |
| Odad2 |
T |
C |
18: 7,223,664 (GRCm39) |
T460A |
probably damaging |
Het |
| Or6c215 |
A |
T |
10: 129,637,533 (GRCm39) |
I287N |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,052 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,996 (GRCm39) |
S190P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,223,208 (GRCm39) |
|
probably null |
Het |
| Zfp112 |
C |
T |
7: 23,825,888 (GRCm39) |
Q619* |
probably null |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,339 (GRCm39) |
E99G |
probably damaging |
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 |
|
R3036:Teddm1a
|
UTSW |
1 |
153,767,656 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- AGGTGTGTGCTCCTAGAAAGAG -3'
(R):5'- TGTAACAACGGTGCCAAAAG -3'
Sequencing Primer
(F):5'- CTCCTAGAAAGAGGTGCCACG -3'
(R):5'- GGAAGAGACACCATAGATTCCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation