Incidental Mutation 'R6400:Dytn'
| ID |
516115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dytn
|
| Ensembl Gene |
ENSMUSG00000069085 |
| Gene Name |
dystrotelin |
| Synonyms |
LOC241073 |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63662010-63726086 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 63680335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 408
(L408*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090313]
|
| AlphaFold |
A2CI98 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090313
AA Change: L408*
|
| SMART Domains |
Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: L408*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
5 |
118 |
8.2e-14 |
PFAM |
|
Pfam:EF-hand_3
|
123 |
217 |
7.2e-20 |
PFAM |
|
ZnF_ZZ
|
222 |
267 |
7.34e-13 |
SMART |
|
coiled coil region
|
382 |
411 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
Het |
|
| Other mutations in Dytn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Dytn
|
APN |
1 |
63,717,999 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00870:Dytn
|
APN |
1 |
63,716,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL02110:Dytn
|
APN |
1 |
63,686,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02124:Dytn
|
APN |
1 |
63,680,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02211:Dytn
|
APN |
1 |
63,714,089 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02712:Dytn
|
APN |
1 |
63,703,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02832:Dytn
|
APN |
1 |
63,682,532 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03036:Dytn
|
APN |
1 |
63,680,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
H8562:Dytn
|
UTSW |
1 |
63,714,071 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0306:Dytn
|
UTSW |
1 |
63,724,272 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0441:Dytn
|
UTSW |
1 |
63,717,933 (GRCm39) |
splice site |
probably benign |
|
|
R1453:Dytn
|
UTSW |
1 |
63,673,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1655:Dytn
|
UTSW |
1 |
63,700,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Dytn
|
UTSW |
1 |
63,716,420 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3030:Dytn
|
UTSW |
1 |
63,672,678 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4062:Dytn
|
UTSW |
1 |
63,686,606 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4640:Dytn
|
UTSW |
1 |
63,682,507 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4804:Dytn
|
UTSW |
1 |
63,682,525 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4931:Dytn
|
UTSW |
1 |
63,672,837 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5015:Dytn
|
UTSW |
1 |
63,672,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5054:Dytn
|
UTSW |
1 |
63,700,318 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5120:Dytn
|
UTSW |
1 |
63,662,202 (GRCm39) |
missense |
probably benign |
|
|
R5888:Dytn
|
UTSW |
1 |
63,716,396 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6243:Dytn
|
UTSW |
1 |
63,686,680 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7595:Dytn
|
UTSW |
1 |
63,698,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7705:Dytn
|
UTSW |
1 |
63,717,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Dytn
|
UTSW |
1 |
63,686,673 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8745:Dytn
|
UTSW |
1 |
63,686,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8952:Dytn
|
UTSW |
1 |
63,698,111 (GRCm39) |
missense |
|
|
|
R9227:Dytn
|
UTSW |
1 |
63,686,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9230:Dytn
|
UTSW |
1 |
63,686,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9447:Dytn
|
UTSW |
1 |
63,700,302 (GRCm39) |
missense |
|
|
|
Z1177:Dytn
|
UTSW |
1 |
63,672,613 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTCCAGGTAGTCCAGG -3'
(R):5'- CTCTGAAGAGGGTTAAAGCTGG -3'
Sequencing Primer
(F):5'- TAGTCCAGGTAGACAGTAGCTCTC -3'
(R):5'- TGTAATGAACACAAAGGCTATCTACC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation