Incidental Mutation 'R4324:Stac3'
| ID |
323970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stac3
|
| Ensembl Gene |
ENSMUSG00000040287 |
| Gene Name |
SH3 and cysteine rich domain 3 |
| Synonyms |
|
| MMRRC Submission |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4324 (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 127339118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 76
(P76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035839]
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000160019]
[ENSMUST00000164161]
[ENSMUST00000164831]
[ENSMUST00000166820]
[ENSMUST00000170336]
[ENSMUST00000160610]
[ENSMUST00000169888]
|
| AlphaFold |
Q8BZ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035839
AA Change: P76S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: P76S
| 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: ENSMUST00000064793
|
| SMART Domains |
Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
730 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077046
|
| SMART Domains |
Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
Pfam:SUZ
|
250 |
303 |
7.4e-14 |
PFAM |
|
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
775 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105249
|
| SMART Domains |
Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
Pfam:SUZ
|
250 |
303 |
5.4e-12 |
PFAM |
|
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105250
|
| SMART Domains |
Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
Pfam:SUZ
|
250 |
303 |
5.6e-12 |
PFAM |
|
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105251
|
| SMART Domains |
Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
Pfam:SUZ
|
250 |
303 |
5.6e-12 |
PFAM |
|
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160019
AA Change: P76S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: P76S
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164161
|
| SMART Domains |
Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164831
|
| SMART Domains |
Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166820
|
| SMART Domains |
Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
Pfam:SUZ
|
250 |
303 |
5.7e-12 |
PFAM |
|
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
775 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170336
|
| SMART Domains |
Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
|
R3H
|
152 |
229 |
1.26e-16 |
SMART |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160610
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169888
|
| SMART Domains |
Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
7 |
54 |
4.7e-12 |
PFAM |
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
474 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
| Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly 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 |
|
|
R3000:Stac3
|
UTSW |
10 |
127,344,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TTTCCCATGATTGGAAAATGAGACC -3'
(R):5'- ACAGACACACCTCTCCTTGG -3'
Sequencing Primer
(F):5'- GACCATGACTGTCATTTAATGATGGG -3'
(R):5'- GACACACCTCTCCTTGGTCCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation