Incidental Mutation 'R6729:Synj2'
| ID |
529989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synj2
|
| Ensembl Gene |
ENSMUSG00000023805 |
| Gene Name |
synaptojanin 2 |
| Synonyms |
SJ2 |
| MMRRC Submission |
044847-MU
|
| Accession Numbers |
Genbank: NM_001113353.1, NM_001113352.1, NM_011523.2, NM_001113351.1
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
5941280-6044290 bp(+) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 5986014 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061091]
[ENSMUST00000080283]
[ENSMUST00000115788]
[ENSMUST00000115789]
[ENSMUST00000115790]
[ENSMUST00000115791]
[ENSMUST00000134767]
[ENSMUST00000142409]
[ENSMUST00000146009]
|
| AlphaFold |
Q9D2G5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061091
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
1 |
263 |
2.5e-72 |
PFAM |
|
Blast:IPPc
|
394 |
423 |
3e-6 |
BLAST |
|
IPPc
|
443 |
785 |
3.72e-128 |
SMART |
|
DUF1866
|
778 |
923 |
1.04e-73 |
SMART |
|
low complexity region
|
926 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080283
AA Change: M86K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: M86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
60 |
348 |
5.5e-78 |
PFAM |
|
Blast:IPPc
|
479 |
508 |
3e-6 |
BLAST |
|
IPPc
|
528 |
870 |
3.72e-128 |
SMART |
|
DUF1866
|
863 |
1008 |
1.04e-73 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1217 |
1234 |
N/A |
INTRINSIC |
|
low complexity region
|
1263 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1293 |
1306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115788
|
| SMART Domains |
Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
1 |
108 |
4.8e-28 |
PFAM |
|
Blast:IPPc
|
239 |
268 |
2e-6 |
BLAST |
|
IPPc
|
288 |
630 |
3.72e-128 |
SMART |
|
DUF1866
|
623 |
768 |
1.04e-73 |
SMART |
|
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
821 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115789
|
| SMART Domains |
Protein: ENSMUSP00000111455
Gene: ENSMUSG00000023805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
1 |
187 |
2.3e-60 |
PFAM |
|
Blast:IPPc
|
318 |
347 |
2e-6 |
BLAST |
|
IPPc
|
367 |
709 |
3.72e-128 |
SMART |
|
DUF1866
|
702 |
847 |
1.04e-73 |
SMART |
|
low complexity region
|
850 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1132 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115790
AA Change: M1K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
1 |
263 |
3e-72 |
PFAM |
|
Blast:IPPc
|
394 |
423 |
3e-6 |
BLAST |
|
IPPc
|
443 |
785 |
3.72e-128 |
SMART |
|
DUF1866
|
778 |
923 |
1.04e-73 |
SMART |
|
low complexity region
|
926 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1194 |
N/A |
INTRINSIC |
|
low complexity region
|
1223 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115791
AA Change: M86K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: M86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
61 |
343 |
8.5e-67 |
PFAM |
|
Blast:IPPc
|
479 |
508 |
3e-6 |
BLAST |
|
IPPc
|
528 |
870 |
3.72e-128 |
SMART |
|
DUF1866
|
863 |
1008 |
1.04e-73 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1097 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1322 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142409
|
| SMART Domains |
Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
1 |
108 |
2.5e-28 |
PFAM |
|
Blast:IPPc
|
239 |
268 |
2e-6 |
BLAST |
|
IPPc
|
288 |
630 |
3.72e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146009
AA Change: M86K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122381
Gene: ENSMUSG00000023805
AA Change: M86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
60 |
348 |
3.6e-78 |
PFAM |
|
Blast:IPPc
|
479 |
508 |
3e-6 |
BLAST |
|
IPPc
|
528 |
870 |
3.72e-128 |
SMART |
|
DUF1866
|
863 |
1008 |
1.04e-73 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1097 |
1112 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(1) Gene trapped(4)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,188,601 |
|
probably null |
Het |
| Acad12 |
A |
T |
5: 121,607,935 |
H230Q |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 35,084,705 |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,808,925 |
V73A |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,565,381 |
M28K |
probably damaging |
Het |
| Atp6v1f |
A |
G |
6: 29,467,965 |
D50G |
probably benign |
Het |
| Cdkal1 |
G |
A |
13: 29,474,695 |
T356M |
probably damaging |
Het |
| Clca1 |
A |
G |
3: 145,005,966 |
I756T |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,670,581 |
V207A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,672,521 |
E2636G |
possibly damaging |
Het |
| Gm13090 |
A |
T |
4: 151,089,628 |
|
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,241,271 |
L227* |
probably null |
Het |
| Nedd9 |
A |
G |
13: 41,315,802 |
M625T |
probably damaging |
Het |
| Olfr1426 |
T |
A |
19: 12,088,496 |
M99L |
probably benign |
Het |
| Olfr148 |
A |
T |
9: 39,613,773 |
M69L |
probably benign |
Het |
| Olfr464 |
G |
A |
11: 87,914,850 |
Q19* |
probably null |
Het |
| Olfr920 |
A |
G |
9: 38,755,828 |
I47V |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,325,101 |
N297S |
probably damaging |
Het |
| Psg21 |
T |
A |
7: 18,652,591 |
I157F |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,440,197 |
V294A |
probably benign |
Het |
| Rsph1 |
A |
G |
17: 31,277,252 |
S2P |
unknown |
Het |
| Sacs |
A |
G |
14: 61,210,518 |
K3338E |
probably damaging |
Het |
| Slc35f4 |
T |
G |
14: 49,318,960 |
N112T |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,938,285 |
F83L |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,393,914 |
V154A |
probably damaging |
Het |
| Tcp1 |
G |
A |
17: 12,923,253 |
R378Q |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 45,217,234 |
T6A |
probably benign |
Het |
| Tpte |
G |
T |
8: 22,355,475 |
V514L |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,830,297 |
N1069D |
probably damaging |
Het |
| Uhrf1bp1l |
T |
A |
10: 89,805,684 |
S906T |
probably benign |
Het |
| Vmn2r105 |
C |
A |
17: 20,208,343 |
G824C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,717,538 |
G19S |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,492,932 |
N2K |
probably damaging |
Het |
|
| Other mutations in Synj2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Synj2
|
APN |
17 |
6037926 |
missense |
possibly damaging |
0.48 |
|
IGL01399:Synj2
|
APN |
17 |
6009771 |
missense |
probably damaging |
1.00 |
|
IGL01793:Synj2
|
APN |
17 |
6027225 |
nonsense |
probably null |
|
|
IGL01793:Synj2
|
APN |
17 |
6038046 |
missense |
probably benign |
0.01 |
|
IGL02096:Synj2
|
APN |
17 |
5990353 |
missense |
probably damaging |
1.00 |
|
IGL02115:Synj2
|
APN |
17 |
6017590 |
missense |
probably damaging |
1.00 |
|
IGL02222:Synj2
|
APN |
17 |
6037480 |
missense |
probably benign |
0.04 |
|
IGL02478:Synj2
|
APN |
17 |
6037924 |
missense |
probably benign |
0.00 |
|
IGL02634:Synj2
|
APN |
17 |
6029760 |
missense |
probably damaging |
1.00 |
|
IGL02652:Synj2
|
APN |
17 |
6017593 |
missense |
probably damaging |
1.00 |
|
IGL02681:Synj2
|
APN |
17 |
5990336 |
missense |
probably damaging |
1.00 |
|
IGL02719:Synj2
|
APN |
17 |
5996917 |
missense |
probably benign |
0.02 |
|
IGL03253:Synj2
|
APN |
17 |
6003159 |
splice site |
probably null |
|
|
IGL03365:Synj2
|
APN |
17 |
6019404 |
missense |
probably damaging |
1.00 |
|
I2288:Synj2
|
UTSW |
17 |
6022267 |
splice site |
probably benign |
|
|
I2289:Synj2
|
UTSW |
17 |
6022267 |
splice site |
probably benign |
|
|
R0389:Synj2
|
UTSW |
17 |
6029783 |
missense |
probably benign |
0.35 |
|
R0433:Synj2
|
UTSW |
17 |
6033848 |
missense |
probably damaging |
1.00 |
|
R0530:Synj2
|
UTSW |
17 |
6008105 |
missense |
possibly damaging |
0.88 |
|
R0539:Synj2
|
UTSW |
17 |
5996888 |
start codon destroyed |
probably null |
0.63 |
|
R0556:Synj2
|
UTSW |
17 |
6037955 |
nonsense |
probably null |
|
|
R1263:Synj2
|
UTSW |
17 |
6019359 |
missense |
probably damaging |
0.99 |
|
R1443:Synj2
|
UTSW |
17 |
6023665 |
missense |
probably damaging |
0.99 |
|
R1450:Synj2
|
UTSW |
17 |
6027324 |
splice site |
probably benign |
|
|
R1532:Synj2
|
UTSW |
17 |
6033919 |
missense |
probably benign |
0.00 |
|
R1542:Synj2
|
UTSW |
17 |
6025017 |
missense |
probably benign |
0.01 |
|
R1809:Synj2
|
UTSW |
17 |
6026551 |
missense |
possibly damaging |
0.95 |
|
R1875:Synj2
|
UTSW |
17 |
6028550 |
missense |
possibly damaging |
0.69 |
|
R1897:Synj2
|
UTSW |
17 |
6022137 |
nonsense |
probably null |
|
|
R1928:Synj2
|
UTSW |
17 |
5990267 |
missense |
probably damaging |
0.99 |
|
R2008:Synj2
|
UTSW |
17 |
5996946 |
missense |
probably damaging |
1.00 |
|
R2060:Synj2
|
UTSW |
17 |
6037480 |
missense |
probably benign |
0.04 |
|
R2109:Synj2
|
UTSW |
17 |
6013691 |
missense |
probably benign |
0.00 |
|
R2332:Synj2
|
UTSW |
17 |
6023794 |
missense |
probably damaging |
0.99 |
|
R2413:Synj2
|
UTSW |
17 |
6028574 |
missense |
probably damaging |
1.00 |
|
R3684:Synj2
|
UTSW |
17 |
6028443 |
missense |
probably damaging |
0.97 |
|
R4111:Synj2
|
UTSW |
17 |
6007965 |
missense |
probably benign |
0.02 |
|
R4113:Synj2
|
UTSW |
17 |
6007965 |
missense |
probably benign |
0.02 |
|
R4654:Synj2
|
UTSW |
17 |
6013538 |
missense |
probably damaging |
1.00 |
|
R4797:Synj2
|
UTSW |
17 |
6033888 |
missense |
probably damaging |
1.00 |
|
R4812:Synj2
|
UTSW |
17 |
6010664 |
missense |
probably damaging |
1.00 |
|
R4873:Synj2
|
UTSW |
17 |
5988068 |
intron |
probably benign |
|
|
R4875:Synj2
|
UTSW |
17 |
5988068 |
intron |
probably benign |
|
|
R5110:Synj2
|
UTSW |
17 |
6037715 |
missense |
probably benign |
0.06 |
|
R5205:Synj2
|
UTSW |
17 |
5941518 |
missense |
probably damaging |
1.00 |
|
R5504:Synj2
|
UTSW |
17 |
6036475 |
missense |
possibly damaging |
0.85 |
|
R5593:Synj2
|
UTSW |
17 |
6038115 |
makesense |
probably null |
|
|
R5690:Synj2
|
UTSW |
17 |
6035527 |
missense |
probably benign |
0.00 |
|
R5870:Synj2
|
UTSW |
17 |
6037853 |
missense |
probably benign |
0.00 |
|
R6084:Synj2
|
UTSW |
17 |
6017614 |
missense |
probably damaging |
0.98 |
|
R6084:Synj2
|
UTSW |
17 |
6038098 |
missense |
probably damaging |
1.00 |
|
R6158:Synj2
|
UTSW |
17 |
5986212 |
missense |
probably benign |
0.00 |
|
R6159:Synj2
|
UTSW |
17 |
5986052 |
missense |
probably damaging |
1.00 |
|
R6160:Synj2
|
UTSW |
17 |
6008061 |
missense |
possibly damaging |
0.92 |
|
R6278:Synj2
|
UTSW |
17 |
5975874 |
missense |
probably damaging |
1.00 |
|
R6406:Synj2
|
UTSW |
17 |
6019571 |
intron |
probably benign |
|
|
R6531:Synj2
|
UTSW |
17 |
6033839 |
missense |
probably damaging |
1.00 |
|
R6774:Synj2
|
UTSW |
17 |
6038015 |
missense |
possibly damaging |
0.87 |
|
R6792:Synj2
|
UTSW |
17 |
5990290 |
missense |
probably benign |
0.01 |
|
R6844:Synj2
|
UTSW |
17 |
5975806 |
missense |
probably damaging |
0.96 |
|
R6865:Synj2
|
UTSW |
17 |
6017569 |
nonsense |
probably null |
|
|
R7178:Synj2
|
UTSW |
17 |
6026479 |
missense |
possibly damaging |
0.95 |
|
R7286:Synj2
|
UTSW |
17 |
6037945 |
missense |
possibly damaging |
0.79 |
|
R7403:Synj2
|
UTSW |
17 |
6037730 |
missense |
possibly damaging |
0.76 |
|
R7451:Synj2
|
UTSW |
17 |
6029791 |
missense |
possibly damaging |
0.68 |
|
R7501:Synj2
|
UTSW |
17 |
5990239 |
missense |
possibly damaging |
0.79 |
|
R7730:Synj2
|
UTSW |
17 |
6016287 |
missense |
probably benign |
0.33 |
|
R7799:Synj2
|
UTSW |
17 |
6037823 |
missense |
probably benign |
0.10 |
|
R7804:Synj2
|
UTSW |
17 |
6019534 |
missense |
unknown |
|
|
R7841:Synj2
|
UTSW |
17 |
6044144 |
missense |
unknown |
|
|
R8347:Synj2
|
UTSW |
17 |
6009785 |
missense |
probably damaging |
1.00 |
|
R8358:Synj2
|
UTSW |
17 |
6023805 |
nonsense |
probably null |
|
|
R8391:Synj2
|
UTSW |
17 |
5941521 |
missense |
probably damaging |
0.99 |
|
R8725:Synj2
|
UTSW |
17 |
6037740 |
missense |
possibly damaging |
0.48 |
|
R8787:Synj2
|
UTSW |
17 |
5986239 |
missense |
possibly damaging |
0.57 |
|
R8877:Synj2
|
UTSW |
17 |
6037666 |
missense |
probably damaging |
1.00 |
|
R9091:Synj2
|
UTSW |
17 |
6017600 |
missense |
possibly damaging |
0.88 |
|
R9121:Synj2
|
UTSW |
17 |
5990324 |
missense |
probably damaging |
1.00 |
|
R9147:Synj2
|
UTSW |
17 |
6033897 |
missense |
probably damaging |
1.00 |
|
R9148:Synj2
|
UTSW |
17 |
6033897 |
missense |
probably damaging |
1.00 |
|
R9270:Synj2
|
UTSW |
17 |
6017600 |
missense |
possibly damaging |
0.88 |
|
R9489:Synj2
|
UTSW |
17 |
6013519 |
missense |
probably benign |
0.00 |
|
R9605:Synj2
|
UTSW |
17 |
6013519 |
missense |
probably benign |
0.00 |
|
R9720:Synj2
|
UTSW |
17 |
5990309 |
missense |
probably benign |
|
|
R9773:Synj2
|
UTSW |
17 |
6043957 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGTTAGGAAGGCTCTCC -3'
(R):5'- CCTGTTTCTGAGCCCTGATG -3'
Sequencing Primer
(F):5'- TCATTCAGGGATGATGCACC -3'
(R):5'- TGGTCAGATCGAAGCAGGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation