Incidental Mutation 'R3030:Dytn'
| ID |
264685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dytn
|
| Ensembl Gene |
ENSMUSG00000069085 |
| Gene Name |
dystrotelin |
| Synonyms |
LOC241073 |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
63662010-63726086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63672678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 575
(E575V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090313]
|
| AlphaFold |
A2CI98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090313
AA Change: E575V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: E575V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,941,160 (GRCm39) |
D46V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,591,184 (GRCm39) |
K199E |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,676,521 (GRCm39) |
I291V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,402 (GRCm39) |
S236P |
probably damaging |
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 |
|
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 |
|
R6400:Dytn
|
UTSW |
1 |
63,680,335 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGGCTCTGAAAGTCTTACCTGAC -3'
(R):5'- GGGAAAGCTCTACCAGACTCTG -3'
Sequencing Primer
(F):5'- GTCTATATAGGCAGTTCCAGGCC -3'
(R):5'- CTCTGAACCACAAGAGATCATTTTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation