Incidental Mutation 'R5350:Dach1'
| ID |
423775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dach1
|
| Ensembl Gene |
ENSMUSG00000055639 |
| Gene Name |
dachshund family transcription factor 1 |
| Synonyms |
Dac, E130112M23Rik |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
98024289-98407201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98207395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 318
(A318E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069334]
[ENSMUST00000071533]
|
| AlphaFold |
Q9QYB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069334
AA Change: A318E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064970
Gene: ENSMUSG00000055639
AA Change: A318E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
156 |
N/A |
INTRINSIC |
|
Pfam:Ski_Sno
|
159 |
275 |
4.8e-53 |
PFAM |
|
low complexity region
|
318 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
470 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
556 |
674 |
1e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071533
AA Change: A318E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071464
Gene: ENSMUSG00000055639
AA Change: A318E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
156 |
N/A |
INTRINSIC |
|
Pfam:Ski_Sno
|
164 |
274 |
6.5e-42 |
PFAM |
|
low complexity region
|
318 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
522 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
608 |
726 |
6e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158924
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: In spite of normal gross morphology, mice homozygous for targeted mutations that inactivate this gene die within 1 day of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
|
| Other mutations in Dach1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Dach1
|
APN |
14 |
98,138,858 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01101:Dach1
|
APN |
14 |
98,077,640 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02033:Dach1
|
APN |
14 |
98,138,865 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02116:Dach1
|
APN |
14 |
98,138,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02583:Dach1
|
APN |
14 |
98,065,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL02937:Dach1
|
APN |
14 |
98,153,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03120:Dach1
|
APN |
14 |
98,065,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Dach1
|
UTSW |
14 |
98,406,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Dach1
|
UTSW |
14 |
98,406,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Dach1
|
UTSW |
14 |
98,406,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Dach1
|
UTSW |
14 |
98,406,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Dach1
|
UTSW |
14 |
98,406,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Dach1
|
UTSW |
14 |
98,207,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0511:Dach1
|
UTSW |
14 |
98,138,765 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Dach1
|
UTSW |
14 |
98,140,715 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0799:Dach1
|
UTSW |
14 |
98,406,051 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0928:Dach1
|
UTSW |
14 |
98,153,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0939:Dach1
|
UTSW |
14 |
98,153,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Dach1
|
UTSW |
14 |
98,138,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1646:Dach1
|
UTSW |
14 |
98,406,550 (GRCm39) |
missense |
unknown |
|
|
R1865:Dach1
|
UTSW |
14 |
98,077,645 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1881:Dach1
|
UTSW |
14 |
98,138,832 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1909:Dach1
|
UTSW |
14 |
98,138,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Dach1
|
UTSW |
14 |
98,068,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Dach1
|
UTSW |
14 |
98,405,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2570:Dach1
|
UTSW |
14 |
98,138,847 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3924:Dach1
|
UTSW |
14 |
98,153,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Dach1
|
UTSW |
14 |
98,077,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4095:Dach1
|
UTSW |
14 |
98,138,815 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4373:Dach1
|
UTSW |
14 |
98,065,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5428:Dach1
|
UTSW |
14 |
98,406,705 (GRCm39) |
missense |
unknown |
|
|
R5818:Dach1
|
UTSW |
14 |
98,406,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Dach1
|
UTSW |
14 |
98,256,328 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6967:Dach1
|
UTSW |
14 |
98,140,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Dach1
|
UTSW |
14 |
98,406,295 (GRCm39) |
missense |
probably benign |
|
|
R7701:Dach1
|
UTSW |
14 |
98,140,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8176:Dach1
|
UTSW |
14 |
98,153,916 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8196:Dach1
|
UTSW |
14 |
98,256,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8419:Dach1
|
UTSW |
14 |
98,406,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Dach1
|
UTSW |
14 |
98,406,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Dach1
|
UTSW |
14 |
98,140,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Dach1
|
UTSW |
14 |
98,065,770 (GRCm39) |
nonsense |
probably null |
|
|
R8909:Dach1
|
UTSW |
14 |
98,406,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Dach1
|
UTSW |
14 |
98,406,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9200:Dach1
|
UTSW |
14 |
98,065,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Dach1
|
UTSW |
14 |
98,140,587 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGACTGTGAATAGCTGGAGAAC -3'
(R):5'- CCTATGGAATATGTGTTACTTCTCTGC -3'
Sequencing Primer
(F):5'- CTGTGAATAGCTGGAGAACATTAAAC -3'
(R):5'- ACCCATCTATATTAATGCTGCAATGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation