Incidental Mutation 'IGL01867:Synm'
| ID |
178547 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01867
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67383222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1480
(H1480L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
| AlphaFold |
Q70IV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051389
AA Change: H1178L
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: H1178L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
10 |
321 |
2.7e-38 |
PFAM |
|
low complexity region
|
1248 |
1257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074233
AA Change: H1480L
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: H1480L
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
10 |
321 |
6.4e-38 |
SMART |
|
internal_repeat_1
|
1089 |
1185 |
3.03e-7 |
PROSPERO |
|
internal_repeat_1
|
1351 |
1454 |
3.03e-7 |
PROSPERO |
|
low complexity region
|
1550 |
1559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207102
AA Change: H736L
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000208231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
| Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
| Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
| Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
| Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
| Insyn2b |
A |
G |
11: 34,353,065 (GRCm39) |
E369G |
probably benign |
Het |
| Lag3 |
A |
G |
6: 124,887,869 (GRCm39) |
S22P |
probably benign |
Het |
| Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
| Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
| Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
| Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
| Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
| Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
| Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
| Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,783,570 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
| Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
| Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,917,841 (GRCm39) |
M135K |
probably damaging |
Het |
|
| Other mutations in Synm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Synm
|
APN |
7 |
67,384,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01567:Synm
|
APN |
7 |
67,384,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01870:Synm
|
APN |
7 |
67,385,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01951:Synm
|
APN |
7 |
67,388,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Synm
|
APN |
7 |
67,384,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02892:Synm
|
APN |
7 |
67,384,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Synm
|
UTSW |
7 |
67,385,025 (GRCm39) |
missense |
probably benign |
|
|
R0032:Synm
|
UTSW |
7 |
67,383,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0194:Synm
|
UTSW |
7 |
67,384,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Synm
|
UTSW |
7 |
67,385,569 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0453:Synm
|
UTSW |
7 |
67,386,630 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0646:Synm
|
UTSW |
7 |
67,408,916 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0847:Synm
|
UTSW |
7 |
67,384,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Synm
|
UTSW |
7 |
67,385,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Synm
|
UTSW |
7 |
67,386,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Synm
|
UTSW |
7 |
67,409,376 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1715:Synm
|
UTSW |
7 |
67,386,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Synm
|
UTSW |
7 |
67,383,748 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1799:Synm
|
UTSW |
7 |
67,385,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Synm
|
UTSW |
7 |
67,383,343 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2979:Synm
|
UTSW |
7 |
67,386,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Synm
|
UTSW |
7 |
67,384,405 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4172:Synm
|
UTSW |
7 |
67,385,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Synm
|
UTSW |
7 |
67,384,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5114:Synm
|
UTSW |
7 |
67,385,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Synm
|
UTSW |
7 |
67,384,437 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5446:Synm
|
UTSW |
7 |
67,385,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5592:Synm
|
UTSW |
7 |
67,409,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Synm
|
UTSW |
7 |
67,385,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Synm
|
UTSW |
7 |
67,384,686 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6034:Synm
|
UTSW |
7 |
67,384,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Synm
|
UTSW |
7 |
67,384,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6445:Synm
|
UTSW |
7 |
67,383,393 (GRCm39) |
missense |
probably benign |
|
|
R6446:Synm
|
UTSW |
7 |
67,384,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Synm
|
UTSW |
7 |
67,385,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Synm
|
UTSW |
7 |
67,385,331 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6612:Synm
|
UTSW |
7 |
67,383,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6646:Synm
|
UTSW |
7 |
67,384,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Synm
|
UTSW |
7 |
67,382,994 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6957:Synm
|
UTSW |
7 |
67,385,848 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6988:Synm
|
UTSW |
7 |
67,383,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Synm
|
UTSW |
7 |
67,384,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7320:Synm
|
UTSW |
7 |
67,385,128 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7417:Synm
|
UTSW |
7 |
67,382,954 (GRCm39) |
makesense |
probably null |
|
|
R7425:Synm
|
UTSW |
7 |
67,383,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:Synm
|
UTSW |
7 |
67,382,971 (GRCm39) |
missense |
unknown |
|
|
R7733:Synm
|
UTSW |
7 |
67,385,693 (GRCm39) |
splice site |
probably null |
|
|
R7782:Synm
|
UTSW |
7 |
67,384,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Synm
|
UTSW |
7 |
67,385,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Synm
|
UTSW |
7 |
67,384,983 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8177:Synm
|
UTSW |
7 |
67,383,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8190:Synm
|
UTSW |
7 |
67,383,654 (GRCm39) |
missense |
probably benign |
|
|
R8225:Synm
|
UTSW |
7 |
67,408,797 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8414:Synm
|
UTSW |
7 |
67,383,511 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8880:Synm
|
UTSW |
7 |
67,386,456 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8978:Synm
|
UTSW |
7 |
67,384,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Synm
|
UTSW |
7 |
67,384,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Synm
|
UTSW |
7 |
67,408,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9281:Synm
|
UTSW |
7 |
67,386,048 (GRCm39) |
nonsense |
probably null |
|
|
R9430:Synm
|
UTSW |
7 |
67,383,181 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9732:Synm
|
UTSW |
7 |
67,385,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Synm
|
UTSW |
7 |
67,401,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation