Incidental Mutation 'R6145:Syne4'
| ID |
501864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syne4
|
| Ensembl Gene |
ENSMUSG00000019737 |
| Gene Name |
spectrin repeat containing, nuclear envelope family member 4 |
| Synonyms |
0610012K07Rik, AI428936, nesprin-4 |
| MMRRC Submission |
044292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30014268-30018471 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 30015988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054594]
[ENSMUST00000060834]
[ENSMUST00000098586]
[ENSMUST00000136887]
[ENSMUST00000176304]
[ENSMUST00000176304]
[ENSMUST00000176504]
[ENSMUST00000176504]
[ENSMUST00000137550]
[ENSMUST00000177078]
[ENSMUST00000177078]
[ENSMUST00000176789]
|
| AlphaFold |
Q8CII8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054594
|
| SMART Domains |
Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
96 |
198 |
2e-34 |
BLAST |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
315 |
N/A |
INTRINSIC |
|
KASH
|
335 |
388 |
2.85e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060834
|
| SMART Domains |
Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2OG-FeII_Oxy_2
|
23 |
224 |
3.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098586
|
| SMART Domains |
Protein: ENSMUSP00000096185
Gene: ENSMUSG00000074211
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
9 |
63 |
2.1e-16 |
PFAM |
|
Pfam:Complex1_LYR_1
|
9 |
65 |
5.9e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136887
|
| SMART Domains |
Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2OG-FeII_Oxy_2
|
3 |
210 |
2.1e-16 |
PFAM |
|
Pfam:2OG-FeII_Oxy
|
82 |
213 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176304
|
| SMART Domains |
Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
96 |
196 |
3e-34 |
BLAST |
|
low complexity region
|
197 |
232 |
N/A |
INTRINSIC |
|
KASH
|
252 |
305 |
2.85e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176304
|
| SMART Domains |
Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
96 |
196 |
3e-34 |
BLAST |
|
low complexity region
|
197 |
232 |
N/A |
INTRINSIC |
|
KASH
|
252 |
305 |
2.85e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176504
|
| SMART Domains |
Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
92 |
170 |
2e-33 |
BLAST |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176504
|
| SMART Domains |
Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
92 |
170 |
2e-33 |
BLAST |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176232
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177078
|
| SMART Domains |
Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
88 |
150 |
4e-24 |
BLAST |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177078
|
| SMART Domains |
Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
88 |
150 |
4e-24 |
BLAST |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177257
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss associated with outer hair cell degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
T |
A |
1: 85,980,664 (GRCm39) |
|
probably null |
Het |
| Abca8b |
A |
G |
11: 109,864,634 (GRCm39) |
V316A |
probably benign |
Het |
| Acad10 |
A |
T |
5: 121,760,096 (GRCm39) |
V999D |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,644,985 (GRCm39) |
V66A |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,619,400 (GRCm39) |
H1484R |
probably damaging |
Het |
| Anxa6 |
A |
G |
11: 54,885,730 (GRCm39) |
F405S |
probably damaging |
Het |
| Asmt |
G |
A |
X: 169,108,398 (GRCm39) |
V101I |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,114,805 (GRCm39) |
V327I |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,525,865 (GRCm39) |
E906G |
possibly damaging |
Het |
| Cacna1g |
A |
T |
11: 94,353,087 (GRCm39) |
C313S |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,599,507 (GRCm39) |
I329T |
probably benign |
Het |
| Cavin4 |
A |
T |
4: 48,663,794 (GRCm39) |
H58L |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 26,008,039 (GRCm39) |
P317T |
probably benign |
Het |
| Cdc16 |
T |
G |
8: 13,817,573 (GRCm39) |
Y295D |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,321,717 (GRCm39) |
N270I |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,546 (GRCm39) |
I114F |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,045,833 (GRCm39) |
E2414G |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,393 (GRCm39) |
I247V |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,022,927 (GRCm39) |
R1070L |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,493,982 (GRCm39) |
S1713P |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,553,621 (GRCm39) |
G602* |
probably null |
Het |
| Ep400 |
A |
T |
5: 110,904,569 (GRCm39) |
V10D |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,136,857 (GRCm39) |
C807R |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,552,673 (GRCm39) |
P200L |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,561,691 (GRCm39) |
I168V |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,112 (GRCm39) |
H6615L |
possibly damaging |
Het |
| Galk2 |
A |
T |
2: 125,788,762 (GRCm39) |
Q272L |
possibly damaging |
Het |
| Gas7 |
A |
C |
11: 67,520,438 (GRCm39) |
T43P |
probably damaging |
Het |
| Gm5134 |
A |
T |
10: 75,831,673 (GRCm39) |
I371F |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,266 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Grk1 |
T |
A |
8: 13,455,765 (GRCm39) |
Y216* |
probably null |
Het |
| Grm5 |
T |
A |
7: 87,675,809 (GRCm39) |
M441K |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,656,962 (GRCm39) |
E408G |
probably damaging |
Het |
| Hoxc9 |
G |
T |
15: 102,892,391 (GRCm39) |
K201N |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,239,077 (GRCm39) |
Y368F |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,685,057 (GRCm39) |
D131V |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,479,177 (GRCm39) |
E19G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,224,039 (GRCm39) |
*395Q |
probably null |
Het |
| Kdm6b |
A |
T |
11: 69,295,852 (GRCm39) |
L805Q |
unknown |
Het |
| Lgr4 |
T |
A |
2: 109,837,588 (GRCm39) |
L427* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,882,380 (GRCm39) |
S525N |
unknown |
Het |
| Nasp |
G |
A |
4: 116,468,274 (GRCm39) |
T237I |
probably benign |
Het |
| Nell2 |
G |
T |
15: 95,371,442 (GRCm39) |
Q98K |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,562,455 (GRCm39) |
G107R |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,403 (GRCm39) |
S203P |
probably damaging |
Het |
| Or1m1 |
T |
G |
9: 18,666,865 (GRCm39) |
D22A |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,496,184 (GRCm39) |
V117A |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pde10a |
T |
C |
17: 9,147,949 (GRCm39) |
V366A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,279,625 (GRCm39) |
D250V |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,808,468 (GRCm39) |
I179N |
probably damaging |
Het |
| Plaa |
T |
A |
4: 94,472,229 (GRCm39) |
I294F |
probably damaging |
Het |
| Pmel |
C |
A |
10: 128,551,804 (GRCm39) |
P213T |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,472 (GRCm39) |
R248* |
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,703,002 (GRCm39) |
|
probably benign |
Het |
| Ppm1j |
G |
A |
3: 104,688,695 (GRCm39) |
R98H |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,589,937 (GRCm39) |
P2600L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,186,991 (GRCm39) |
N422S |
probably benign |
Het |
| Pspn |
C |
T |
17: 57,306,467 (GRCm39) |
C154Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,120,701 (GRCm39) |
|
probably null |
Het |
| Rapgef1 |
A |
G |
2: 29,626,678 (GRCm39) |
Y993C |
probably damaging |
Het |
| Scrn2 |
A |
C |
11: 96,923,679 (GRCm39) |
T219P |
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,380,208 (GRCm39) |
S874R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,476,072 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
C |
T |
19: 10,834,615 (GRCm39) |
L499F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,800,628 (GRCm39) |
M193T |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,627,605 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,002,750 (GRCm39) |
D8055G |
probably damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,427,203 (GRCm39) |
G253V |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,976 (GRCm39) |
I467N |
probably damaging |
Het |
| Tln1 |
T |
A |
4: 43,538,030 (GRCm39) |
M1857L |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,619,031 (GRCm39) |
R299G |
probably benign |
Het |
| Ugt2b36 |
T |
G |
5: 87,214,072 (GRCm39) |
E524A |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,283,113 (GRCm39) |
T269I |
probably benign |
Het |
| Vmn2r4 |
A |
G |
3: 64,314,364 (GRCm39) |
F206L |
probably benign |
Het |
| Zfp346 |
A |
G |
13: 55,263,387 (GRCm39) |
K156R |
probably damaging |
Het |
|
| Other mutations in Syne4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Syne4
|
APN |
7 |
30,015,988 (GRCm39) |
splice site |
probably null |
|
|
IGL02386:Syne4
|
APN |
7 |
30,015,659 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0089:Syne4
|
UTSW |
7 |
30,018,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0091:Syne4
|
UTSW |
7 |
30,018,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0448:Syne4
|
UTSW |
7 |
30,014,345 (GRCm39) |
start gained |
probably benign |
|
|
R0555:Syne4
|
UTSW |
7 |
30,016,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1205:Syne4
|
UTSW |
7 |
30,014,761 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1862:Syne4
|
UTSW |
7 |
30,016,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1863:Syne4
|
UTSW |
7 |
30,016,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4776:Syne4
|
UTSW |
7 |
30,016,258 (GRCm39) |
splice site |
probably benign |
|
|
R5325:Syne4
|
UTSW |
7 |
30,018,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Syne4
|
UTSW |
7 |
30,016,340 (GRCm39) |
nonsense |
probably null |
|
|
R7823:Syne4
|
UTSW |
7 |
30,018,280 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9013:Syne4
|
UTSW |
7 |
30,017,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Syne4
|
UTSW |
7 |
30,016,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9596:Syne4
|
UTSW |
7 |
30,014,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Syne4
|
UTSW |
7 |
30,015,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTGTCCAGATGCAGGTAG -3'
(R):5'- TAGCTGATCAACTGGGCCTG -3'
Sequencing Primer
(F):5'- CAGTGGGAGGCCAGGTTATAG -3'
(R):5'- TCAACTGGGCCTGCAGCTG -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation