Incidental Mutation 'R5223:Smtn'
| ID |
402446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smtn
|
| Ensembl Gene |
ENSMUSG00000020439 |
| Gene Name |
smoothelin |
| Synonyms |
|
| MMRRC Submission |
042796-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.515)
|
| Stock # |
R5223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3467522-3489337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3479530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 512
(N512K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020718]
[ENSMUST00000020721]
[ENSMUST00000075118]
[ENSMUST00000110011]
[ENSMUST00000170588]
[ENSMUST00000136243]
[ENSMUST00000156201]
|
| AlphaFold |
Q921U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020718
|
| SMART Domains |
Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
coiled coil region
|
41 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
Pfam:Smoothelin
|
154 |
208 |
1e-23 |
PFAM |
|
low complexity region
|
212 |
236 |
N/A |
INTRINSIC |
|
CH
|
322 |
421 |
1.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020721
AA Change: N512K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: N512K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
1.7e-15 |
PFAM |
|
Pfam:Smoothelin
|
68 |
122 |
6.8e-19 |
PFAM |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
391 |
N/A |
INTRINSIC |
|
Pfam:Smoothelin
|
563 |
617 |
2.7e-23 |
PFAM |
|
low complexity region
|
697 |
721 |
N/A |
INTRINSIC |
|
CH
|
807 |
906 |
1.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075118
AA Change: N512K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: N512K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
1.7e-15 |
PFAM |
|
Pfam:Smoothelin
|
68 |
122 |
6.8e-19 |
PFAM |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
391 |
N/A |
INTRINSIC |
|
Pfam:Smoothelin
|
563 |
617 |
2.8e-23 |
PFAM |
|
low complexity region
|
697 |
721 |
N/A |
INTRINSIC |
|
CH
|
807 |
907 |
9.51e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110011
AA Change: N512K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: N512K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
2.5e-14 |
PFAM |
|
Pfam:Smoothelin
|
72 |
122 |
8.5e-19 |
PFAM |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
391 |
N/A |
INTRINSIC |
|
Pfam:Smoothelin
|
568 |
617 |
6e-25 |
PFAM |
|
low complexity region
|
697 |
721 |
N/A |
INTRINSIC |
|
CH
|
807 |
930 |
1.62e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123459
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170588
AA Change: N512K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: N512K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
1.7e-15 |
PFAM |
|
Pfam:Smoothelin
|
68 |
122 |
6.8e-19 |
PFAM |
|
low complexity region
|
159 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
391 |
N/A |
INTRINSIC |
|
Pfam:Smoothelin
|
563 |
617 |
2.7e-23 |
PFAM |
|
low complexity region
|
697 |
721 |
N/A |
INTRINSIC |
|
CH
|
807 |
906 |
1.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136243
|
| SMART Domains |
Protein: ENSMUSP00000117307
Gene: ENSMUSG00000020439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
2.3e-16 |
PFAM |
|
Pfam:Smoothelin
|
68 |
122 |
6.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156201
|
| SMART Domains |
Protein: ENSMUSP00000118750
Gene: ENSMUSG00000020439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smoothelin
|
1 |
41 |
3.4e-13 |
PFAM |
|
Pfam:Smoothelin
|
68 |
122 |
1e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appearnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
| Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
| Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
| Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
| Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
| Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
| Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
| Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
| Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
| Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
| Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
| Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,402,074 (GRCm39) |
V1100E |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
| Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
| Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,383,272 (GRCm39) |
Y789H |
probably damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
| Pex5l |
A |
T |
3: 33,012,945 (GRCm39) |
S15T |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,944,891 (GRCm39) |
R1316W |
possibly damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
| Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
| Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
| Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
| Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
| Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
| Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,142,589 (GRCm39) |
I712F |
probably damaging |
Het |
| Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
| Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
| Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
| Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
probably benign |
Het |
|
| Other mutations in Smtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Smtn
|
APN |
11 |
3,476,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02335:Smtn
|
APN |
11 |
3,476,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Smtn
|
APN |
11 |
3,482,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Smtn
|
APN |
11 |
3,476,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02824:Smtn
|
APN |
11 |
3,482,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03067:Smtn
|
APN |
11 |
3,480,165 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03142:Smtn
|
APN |
11 |
3,482,601 (GRCm39) |
nonsense |
probably null |
|
|
runtish
|
UTSW |
11 |
3,481,326 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0279:Smtn
|
UTSW |
11 |
3,480,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0523:Smtn
|
UTSW |
11 |
3,474,664 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0855:Smtn
|
UTSW |
11 |
3,471,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1080:Smtn
|
UTSW |
11 |
3,467,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Smtn
|
UTSW |
11 |
3,480,021 (GRCm39) |
missense |
probably benign |
|
|
R1571:Smtn
|
UTSW |
11 |
3,480,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1899:Smtn
|
UTSW |
11 |
3,481,326 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2033:Smtn
|
UTSW |
11 |
3,467,781 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2126:Smtn
|
UTSW |
11 |
3,480,045 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2358:Smtn
|
UTSW |
11 |
3,482,865 (GRCm39) |
splice site |
probably null |
|
|
R3690:Smtn
|
UTSW |
11 |
3,477,687 (GRCm39) |
intron |
probably benign |
|
|
R3712:Smtn
|
UTSW |
11 |
3,482,865 (GRCm39) |
splice site |
probably null |
|
|
R4108:Smtn
|
UTSW |
11 |
3,476,449 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4709:Smtn
|
UTSW |
11 |
3,474,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4710:Smtn
|
UTSW |
11 |
3,474,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4830:Smtn
|
UTSW |
11 |
3,470,736 (GRCm39) |
intron |
probably benign |
|
|
R4944:Smtn
|
UTSW |
11 |
3,472,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Smtn
|
UTSW |
11 |
3,477,825 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5554:Smtn
|
UTSW |
11 |
3,470,811 (GRCm39) |
nonsense |
probably null |
|
|
R5610:Smtn
|
UTSW |
11 |
3,479,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Smtn
|
UTSW |
11 |
3,467,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5972:Smtn
|
UTSW |
11 |
3,483,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Smtn
|
UTSW |
11 |
3,479,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6227:Smtn
|
UTSW |
11 |
3,477,624 (GRCm39) |
intron |
probably benign |
|
|
R7016:Smtn
|
UTSW |
11 |
3,480,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7423:Smtn
|
UTSW |
11 |
3,481,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7426:Smtn
|
UTSW |
11 |
3,480,249 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7447:Smtn
|
UTSW |
11 |
3,480,196 (GRCm39) |
missense |
probably benign |
|
|
R7496:Smtn
|
UTSW |
11 |
3,479,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7716:Smtn
|
UTSW |
11 |
3,474,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8762:Smtn
|
UTSW |
11 |
3,476,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8925:Smtn
|
UTSW |
11 |
3,479,477 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8927:Smtn
|
UTSW |
11 |
3,479,477 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8932:Smtn
|
UTSW |
11 |
3,472,908 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9137:Smtn
|
UTSW |
11 |
3,472,838 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9502:Smtn
|
UTSW |
11 |
3,482,780 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGACTATTAGTCTCTCTGGCC -3'
(R):5'- ACTCCTGATTCTGCTGGTGC -3'
Sequencing Primer
(F):5'- CTTTGTATGCACCATAGAGAATGCCC -3'
(R):5'- ACTGGCACTGCCTACATT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation