Incidental Mutation 'R3685:Dmrtc2'
| ID |
269499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrtc2
|
| Ensembl Gene |
ENSMUSG00000011349 |
| Gene Name |
doublesex and mab-3 related transcription factor like family C2 |
| Synonyms |
Dmrt7, 4933432E21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24569482-24577076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24573687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011493]
[ENSMUST00000079306]
[ENSMUST00000122995]
|
| AlphaFold |
Q8CGW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011493
AA Change: V174A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
DM
|
38 |
91 |
6.53e-21 |
SMART |
|
low complexity region
|
163 |
189 |
N/A |
INTRINSIC |
|
Pfam:DMRT-like
|
242 |
369 |
3.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079306
|
| SMART Domains |
Protein: ENSMUSP00000078287
Gene: ENSMUSG00000062732
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UPAR_LY6
|
142 |
233 |
7.5e-23 |
PFAM |
|
low complexity region
|
237 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122995
|
| SMART Domains |
Protein: ENSMUSP00000122913
Gene: ENSMUSG00000062732
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Males homozygous for a targeted allele are sterile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Prr16 |
C |
A |
18: 51,435,892 (GRCm39) |
P124T |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,535 (GRCm39) |
T106A |
possibly damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,544,667 (GRCm39) |
T253N |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,909,333 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
|
| Other mutations in Dmrtc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Dmrtc2
|
APN |
7 |
24,572,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Dmrtc2
|
APN |
7 |
24,572,008 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02469:Dmrtc2
|
APN |
7 |
24,572,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1173:Dmrtc2
|
UTSW |
7 |
24,573,738 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1775:Dmrtc2
|
UTSW |
7 |
24,573,792 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2167:Dmrtc2
|
UTSW |
7 |
24,573,344 (GRCm39) |
unclassified |
probably benign |
|
|
R2924:Dmrtc2
|
UTSW |
7 |
24,571,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4205:Dmrtc2
|
UTSW |
7 |
24,575,231 (GRCm39) |
nonsense |
probably null |
|
|
R5455:Dmrtc2
|
UTSW |
7 |
24,571,916 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9323:Dmrtc2
|
UTSW |
7 |
24,572,341 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z31818:Dmrtc2
|
UTSW |
7 |
24,576,583 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTGCAATGTGGGTGAAC -3'
(R):5'- TGGTACAGTGGCAACTTAGCATTC -3'
Sequencing Primer
(F):5'- CTTGCAATGTGGGTGAACTAAAAAG -3'
(R):5'- TTCTCAGAGAAGGTGAGTCCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation