Incidental Mutation 'R4640:Dytn'
| ID |
351595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dytn
|
| Ensembl Gene |
ENSMUSG00000069085 |
| Gene Name |
dystrotelin |
| Synonyms |
LOC241073 |
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63662010-63726086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63682507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 380
(L380P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090313]
|
| AlphaFold |
A2CI98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090313
AA Change: L380P
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: L380P
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
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 |
|
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 |
|
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'- AGCTAGATGATGTTCCTTCTGCC -3'
(R):5'- ACATCAGCCAGTTTGTAAGATACTG -3'
Sequencing Primer
(F):5'- AACTTCACATTGATGGGAGTTTC -3'
(R):5'- CATTGTGCTCGTATGACAA -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation