Incidental Mutation 'R3000:Stac3'
| ID |
257258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stac3
|
| Ensembl Gene |
ENSMUSG00000040287 |
| Gene Name |
SH3 and cysteine rich domain 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3000 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127337555-127344692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127344016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 305
(R305C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035839]
[ENSMUST00000160019]
|
| AlphaFold |
Q8BZ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035839
AA Change: R305C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: R305C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
C1
|
89 |
139 |
2.19e-7 |
SMART |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
238 |
N/A |
INTRINSIC |
|
SH3
|
246 |
301 |
1.41e-16 |
SMART |
|
SH3
|
305 |
360 |
8.45e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160019
AA Change: R305C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: R305C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
C1
|
89 |
139 |
2.19e-7 |
SMART |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
238 |
N/A |
INTRINSIC |
|
SH3
|
246 |
301 |
1.41e-16 |
SMART |
|
SH3
|
305 |
360 |
8.45e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162302
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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 a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, abnormal posture, thin diaphragm muscle, abnormal skeletal muscle morphology characterized by centralized nuclei and disorganized myofibrils, and impaired skeletal muscle contractility due to defective excitation-contraction coupling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,609,447 (GRCm39) |
K1364E |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,307,755 (GRCm39) |
N331K |
probably damaging |
Het |
| Bco2 |
C |
A |
9: 50,450,229 (GRCm39) |
D324Y |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,915,342 (GRCm39) |
*211R |
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,456 (GRCm39) |
H228Q |
probably damaging |
Het |
| Lrfn1 |
G |
A |
7: 28,166,832 (GRCm39) |
G742E |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,609,273 (GRCm39) |
D377E |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,839,662 (GRCm39) |
I338N |
possibly damaging |
Het |
| Mep1b |
G |
A |
18: 21,226,361 (GRCm39) |
G408S |
probably damaging |
Het |
| Pdlim5 |
C |
A |
3: 142,017,892 (GRCm39) |
Q125H |
probably damaging |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,460 (GRCm39) |
R4000H |
probably damaging |
Het |
| Ripor3 |
A |
T |
2: 167,833,100 (GRCm39) |
Y357N |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,670,033 (GRCm39) |
D1679E |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,393 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
C |
9: 119,781,320 (GRCm39) |
Y498H |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,273,263 (GRCm39) |
F239S |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,360,949 (GRCm39) |
L173Q |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,714 (GRCm39) |
N2982K |
probably damaging |
Het |
|
| Other mutations in Stac3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Stac3
|
APN |
10 |
127,339,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Stac3
|
APN |
10 |
127,339,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0051:Stac3
|
UTSW |
10 |
127,344,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0090:Stac3
|
UTSW |
10 |
127,339,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0131:Stac3
|
UTSW |
10 |
127,339,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0131:Stac3
|
UTSW |
10 |
127,339,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0132:Stac3
|
UTSW |
10 |
127,339,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0330:Stac3
|
UTSW |
10 |
127,343,616 (GRCm39) |
splice site |
probably null |
|
|
R0630:Stac3
|
UTSW |
10 |
127,343,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Stac3
|
UTSW |
10 |
127,343,128 (GRCm39) |
missense |
probably benign |
|
|
R1450:Stac3
|
UTSW |
10 |
127,340,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Stac3
|
UTSW |
10 |
127,343,635 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2316:Stac3
|
UTSW |
10 |
127,339,229 (GRCm39) |
splice site |
probably null |
|
|
R2511:Stac3
|
UTSW |
10 |
127,339,787 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4324:Stac3
|
UTSW |
10 |
127,339,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4758:Stac3
|
UTSW |
10 |
127,339,214 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5040:Stac3
|
UTSW |
10 |
127,343,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6244:Stac3
|
UTSW |
10 |
127,344,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Stac3
|
UTSW |
10 |
127,343,615 (GRCm39) |
nonsense |
probably null |
|
|
R7335:Stac3
|
UTSW |
10 |
127,340,769 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8191:Stac3
|
UTSW |
10 |
127,344,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Stac3
|
UTSW |
10 |
127,339,229 (GRCm39) |
splice site |
probably null |
|
|
R8410:Stac3
|
UTSW |
10 |
127,339,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Stac3
|
UTSW |
10 |
127,339,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Stac3
|
UTSW |
10 |
127,340,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9008:Stac3
|
UTSW |
10 |
127,339,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Stac3
|
UTSW |
10 |
127,343,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Stac3
|
UTSW |
10 |
127,338,654 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R9759:Stac3
|
UTSW |
10 |
127,344,083 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAATCACAGAGAGGGTCTCCTTTC -3'
(R):5'- GGGTCGTACATACTGATGGG -3'
Sequencing Primer
(F):5'- GAGAGGGTCTCCTTTCTATCCCAG -3'
(R):5'- ACATACTGATGGGTTAGGGCCTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation