Incidental Mutation 'R8009:Sntg1'
| ID |
616778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sntg1
|
| Ensembl Gene |
ENSMUSG00000025909 |
| Gene Name |
syntrophin, gamma 1 |
| Synonyms |
G1SYN, SYN4 |
| MMRRC Submission |
046049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
8431699-9370103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8433794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 486
(V486I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115488]
[ENSMUST00000132064]
[ENSMUST00000140295]
[ENSMUST00000140302]
[ENSMUST00000191683]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115488
AA Change: V487I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: V487I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tubulin_C
|
6 |
54 |
3e-20 |
BLAST |
|
PDZ
|
66 |
140 |
3.41e-17 |
SMART |
|
PH
|
180 |
266 |
8.91e0 |
SMART |
|
PH
|
284 |
392 |
7.66e-1 |
SMART |
|
low complexity region
|
440 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132064
AA Change: V486I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: V486I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tubulin_C
|
6 |
54 |
3e-20 |
BLAST |
|
PDZ
|
66 |
139 |
1.84e-13 |
SMART |
|
PH
|
179 |
265 |
8.91e0 |
SMART |
|
PH
|
283 |
391 |
7.66e-1 |
SMART |
|
low complexity region
|
439 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140295
AA Change: V487I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: V487I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tubulin_C
|
17 |
65 |
3e-20 |
BLAST |
|
PDZ
|
77 |
150 |
1.84e-13 |
SMART |
|
PH
|
190 |
276 |
8.91e0 |
SMART |
|
PH
|
294 |
402 |
7.66e-1 |
SMART |
|
low complexity region
|
450 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140302
|
| SMART Domains |
Protein: ENSMUSP00000117397
Gene: ENSMUSG00000025909
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
66 |
140 |
3.41e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191683
AA Change: V486I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: V486I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tubulin_C
|
6 |
54 |
3e-20 |
BLAST |
|
PDZ
|
66 |
139 |
1.84e-13 |
SMART |
|
PH
|
179 |
265 |
8.91e0 |
SMART |
|
PH
|
283 |
391 |
7.66e-1 |
SMART |
|
low complexity region
|
439 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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 a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,816 (GRCm39) |
Y1466* |
probably null |
Het |
| Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
| Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
| Clcc1 |
A |
G |
3: 108,568,774 (GRCm39) |
N36S |
probably damaging |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,347,354 (GRCm39) |
E1057G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,793 (GRCm39) |
E4842G |
possibly damaging |
Het |
| Gadd45b |
G |
A |
10: 80,766,984 (GRCm39) |
V90I |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,871,667 (GRCm39) |
H79L |
probably damaging |
Het |
| Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,714,553 (GRCm39) |
A950T |
probably benign |
Het |
| Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
| Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
| Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,826,083 (GRCm39) |
D720V |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,915,222 (GRCm39) |
D1622G |
possibly damaging |
Het |
| Meioc |
G |
C |
11: 102,567,569 (GRCm39) |
A788P |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,467,236 (GRCm39) |
T271S |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
| Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
| Or14j5 |
A |
T |
17: 38,161,693 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,848 (GRCm39) |
L36P |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
| Phactr3 |
A |
C |
2: 177,974,737 (GRCm39) |
R523S |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
| Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,362,708 (GRCm39) |
D294G |
probably benign |
Het |
| Psg28 |
T |
A |
7: 18,156,922 (GRCm39) |
I438L |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
| Rbm33 |
G |
A |
5: 28,599,606 (GRCm39) |
G185R |
|
Het |
| Rps6ka5 |
T |
C |
12: 100,544,048 (GRCm39) |
E350G |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
C |
6: 4,691,636 (GRCm39) |
D313G |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,692,046 (GRCm39) |
V366A |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,853,819 (GRCm39) |
T167M |
not run |
Het |
| Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,887,751 (GRCm39) |
V19M |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,829,901 (GRCm39) |
M194K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,634,106 (GRCm39) |
E700G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,314,439 (GRCm39) |
E115D |
probably benign |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
probably benign |
Het |
|
| Other mutations in Sntg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Sntg1
|
APN |
1 |
8,665,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01536:Sntg1
|
APN |
1 |
8,653,424 (GRCm39) |
splice site |
probably null |
|
|
IGL01558:Sntg1
|
APN |
1 |
8,533,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL01649:Sntg1
|
APN |
1 |
8,752,193 (GRCm39) |
splice site |
probably benign |
|
|
IGL02230:Sntg1
|
APN |
1 |
8,752,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02252:Sntg1
|
APN |
1 |
8,484,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02804:Sntg1
|
APN |
1 |
8,874,182 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03165:Sntg1
|
APN |
1 |
8,515,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03400:Sntg1
|
APN |
1 |
8,533,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0013:Sntg1
|
UTSW |
1 |
8,533,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Sntg1
|
UTSW |
1 |
8,749,286 (GRCm39) |
splice site |
probably benign |
|
|
R0379:Sntg1
|
UTSW |
1 |
8,853,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Sntg1
|
UTSW |
1 |
8,624,960 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1081:Sntg1
|
UTSW |
1 |
8,515,343 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1645:Sntg1
|
UTSW |
1 |
8,874,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2089:Sntg1
|
UTSW |
1 |
8,665,763 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2091:Sntg1
|
UTSW |
1 |
8,665,763 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2091:Sntg1
|
UTSW |
1 |
8,665,763 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3951:Sntg1
|
UTSW |
1 |
8,853,125 (GRCm39) |
splice site |
probably benign |
|
|
R4152:Sntg1
|
UTSW |
1 |
8,653,569 (GRCm39) |
splice site |
probably null |
|
|
R4153:Sntg1
|
UTSW |
1 |
8,653,569 (GRCm39) |
splice site |
probably null |
|
|
R4154:Sntg1
|
UTSW |
1 |
8,653,569 (GRCm39) |
splice site |
probably null |
|
|
R4847:Sntg1
|
UTSW |
1 |
8,665,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4888:Sntg1
|
UTSW |
1 |
8,433,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Sntg1
|
UTSW |
1 |
8,853,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5065:Sntg1
|
UTSW |
1 |
8,433,663 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5293:Sntg1
|
UTSW |
1 |
8,665,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5550:Sntg1
|
UTSW |
1 |
8,695,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Sntg1
|
UTSW |
1 |
8,484,495 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5687:Sntg1
|
UTSW |
1 |
8,533,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5759:Sntg1
|
UTSW |
1 |
8,484,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6075:Sntg1
|
UTSW |
1 |
8,749,338 (GRCm39) |
makesense |
probably null |
|
|
R6266:Sntg1
|
UTSW |
1 |
8,624,953 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6313:Sntg1
|
UTSW |
1 |
8,515,248 (GRCm39) |
splice site |
probably null |
|
|
R6345:Sntg1
|
UTSW |
1 |
8,653,508 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6490:Sntg1
|
UTSW |
1 |
8,653,508 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6571:Sntg1
|
UTSW |
1 |
8,433,752 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6736:Sntg1
|
UTSW |
1 |
8,515,274 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7112:Sntg1
|
UTSW |
1 |
8,518,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7266:Sntg1
|
UTSW |
1 |
8,752,243 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7414:Sntg1
|
UTSW |
1 |
8,518,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Sntg1
|
UTSW |
1 |
8,515,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7892:Sntg1
|
UTSW |
1 |
8,853,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Sntg1
|
UTSW |
1 |
8,433,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7968:Sntg1
|
UTSW |
1 |
8,535,760 (GRCm39) |
nonsense |
probably null |
|
|
R8888:Sntg1
|
UTSW |
1 |
8,748,074 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8895:Sntg1
|
UTSW |
1 |
8,748,074 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8986:Sntg1
|
UTSW |
1 |
8,484,491 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9184:Sntg1
|
UTSW |
1 |
8,748,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Sntg1
|
UTSW |
1 |
8,433,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9463:Sntg1
|
UTSW |
1 |
8,624,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9603:Sntg1
|
UTSW |
1 |
8,748,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Sntg1
|
UTSW |
1 |
8,433,749 (GRCm39) |
missense |
unknown |
|
|
X0026:Sntg1
|
UTSW |
1 |
8,484,471 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCATGGTCTCTTCAGGG -3'
(R):5'- TACATGTGGGTTATCCTCATTGC -3'
Sequencing Primer
(F):5'- CATGGTCTCTTCAGGGTGGAAG -3'
(R):5'- GTGGGTTATCCTCATTGCAATAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation