Incidental Mutation 'Z31818:Dmrtc2'
| ID |
478397 |
| 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: 0.352)
|
| Stock # |
Z31818 (F1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24569482-24577076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24576583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 336
(P336T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011493]
|
| AlphaFold |
Q8CGW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011493
AA Change: P336T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349
AA Change: P336T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Flt3 |
C |
T |
5: 147,303,728 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,142 (GRCm39) |
D70N |
probably damaging |
Het |
| Gan |
T |
A |
8: 117,922,536 (GRCm39) |
I423N |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,314,452 (GRCm39) |
L634R |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,800,610 (GRCm39) |
M74K |
probably benign |
Het |
| Or9m1b |
A |
T |
2: 87,836,234 (GRCm39) |
L287* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,385,426 (GRCm39) |
R287G |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,395,924 (GRCm39) |
N2098T |
probably damaging |
Het |
| Proser3 |
G |
A |
7: 30,245,790 (GRCm39) |
P97L |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,461,150 (GRCm39) |
A487T |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,892 (GRCm39) |
C716* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,034,877 (GRCm39) |
Y72H |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,604,729 (GRCm39) |
|
probably null |
Het |
| Vps13a |
C |
T |
19: 16,758,118 (GRCm39) |
V6M |
possibly 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 |
|
R3685:Dmrtc2
|
UTSW |
7 |
24,573,687 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATAGATGTGGCATGCGCG -3'
(R):5'- AATACCAAATATGCAGTGCCTG -3'
Sequencing Primer
(F):5'- ATCTGGGGAACGGTCTGAGC -3'
(R):5'- CAGTGCCTGCAGTTTGTCGTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation