Incidental Mutation 'R3124:Dach2'
| ID |
264218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dach2
|
| Ensembl Gene |
ENSMUSG00000025592 |
| Gene Name |
dachshund family transcription factor 2 |
| Synonyms |
9430028N04Rik |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
112207207-112746083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112729664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 417
(I417T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067219]
[ENSMUST00000113378]
[ENSMUST00000113379]
[ENSMUST00000113380]
[ENSMUST00000113382]
|
| AlphaFold |
Q925Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067219
AA Change: I603T
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064393
Gene: ENSMUSG00000025592
AA Change: I603T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
64 |
168 |
5.2e-40 |
PFAM |
|
low complexity region
|
224 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
417 |
N/A |
INTRINSIC |
|
coiled coil region
|
500 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113378
AA Change: I417T
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109005
Gene: ENSMUSG00000025592
AA Change: I417T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
314 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113379
AA Change: I429T
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109006
Gene: ENSMUSG00000025592
AA Change: I429T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
243 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113380
AA Change: I469T
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109007
Gene: ENSMUSG00000025592
AA Change: I469T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
243 |
N/A |
INTRINSIC |
|
coiled coil region
|
366 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113382
AA Change: I590T
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109009
Gene: ENSMUSG00000025592
AA Change: I590T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
32 |
169 |
2.9e-53 |
PFAM |
|
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
404 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
472 |
571 |
8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123974
|
| Meta Mutation Damage Score |
0.0908 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Targeted disruption of this gene results in homozygous females and hemizygous males that are viable, fertile and do not display gross defects in eye development or brain function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Dach2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02612:Dach2
|
APN |
X |
112,660,101 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03029:Dach2
|
APN |
X |
112,724,833 (GRCm39) |
nonsense |
probably null |
|
|
IGL03369:Dach2
|
APN |
X |
112,465,937 (GRCm39) |
splice site |
probably benign |
|
|
R1381:Dach2
|
UTSW |
X |
112,208,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Dach2
|
UTSW |
X |
112,208,214 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1886:Dach2
|
UTSW |
X |
112,208,305 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3123:Dach2
|
UTSW |
X |
112,729,664 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3125:Dach2
|
UTSW |
X |
112,729,664 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGTCCTAGAGGAGATCTTG -3'
(R):5'- GCTTCATAGGTCAGAGTATGAAAAG -3'
Sequencing Primer
(F):5'- TAGAGGAGATCTTGGAAGTACAAATG -3'
(R):5'- CATAGGTCAGAGTATGAAAAGCTGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation