Incidental Mutation 'IGL03131:Smarcad1'
| ID |
410359 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smarcad1
|
| Ensembl Gene |
ENSMUSG00000029920 |
| Gene Name |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 |
| Synonyms |
Etl1, D6Pas1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
IGL03131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65051937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 357
(S357T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031984]
[ENSMUST00000204620]
|
| AlphaFold |
Q04692 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031984
AA Change: S357T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: S357T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
DEXDc
|
488 |
682 |
2.58e-38 |
SMART |
|
Blast:DEXDc
|
685 |
745 |
4e-16 |
BLAST |
|
HELICc
|
879 |
962 |
4.58e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204620
|
| SMART Domains |
Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(258) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(256) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
| A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
| Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
| Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
| Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
| Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,475,979 (GRCm39) |
V672I |
probably benign |
Het |
| Crnkl1 |
T |
C |
2: 145,774,178 (GRCm39) |
K95R |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,272,051 (GRCm39) |
I369R |
probably benign |
Het |
| Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
| Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
| Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
| F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
| Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,314,964 (GRCm39) |
F885I |
probably damaging |
Het |
| Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
| Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
| Mef2c |
T |
C |
13: 83,810,494 (GRCm39) |
I382T |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
| Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
| Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
| Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
| Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
| Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
| Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
| Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
| Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
| Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
| Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
| Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
| Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
| Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
| Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
probably damaging |
Het |
|
| Other mutations in Smarcad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02318:Smarcad1
|
APN |
6 |
65,050,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Smarcad1
|
APN |
6 |
65,029,790 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03006:Smarcad1
|
APN |
6 |
65,060,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03406:Smarcad1
|
APN |
6 |
65,069,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Trollip
|
UTSW |
6 |
65,091,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wastrel
|
UTSW |
6 |
65,029,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
N/A - 293:Smarcad1
|
UTSW |
6 |
65,051,898 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0020:Smarcad1
|
UTSW |
6 |
65,060,991 (GRCm39) |
splice site |
probably benign |
|
|
R0452:Smarcad1
|
UTSW |
6 |
65,051,806 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1005:Smarcad1
|
UTSW |
6 |
65,085,711 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1143:Smarcad1
|
UTSW |
6 |
65,073,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1624:Smarcad1
|
UTSW |
6 |
65,029,631 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1629:Smarcad1
|
UTSW |
6 |
65,044,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1705:Smarcad1
|
UTSW |
6 |
65,033,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Smarcad1
|
UTSW |
6 |
65,050,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2979:Smarcad1
|
UTSW |
6 |
65,051,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3937:Smarcad1
|
UTSW |
6 |
65,091,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4391:Smarcad1
|
UTSW |
6 |
65,033,443 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4648:Smarcad1
|
UTSW |
6 |
65,044,073 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4697:Smarcad1
|
UTSW |
6 |
65,029,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4709:Smarcad1
|
UTSW |
6 |
65,052,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4726:Smarcad1
|
UTSW |
6 |
65,052,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Smarcad1
|
UTSW |
6 |
65,075,808 (GRCm39) |
missense |
probably null |
1.00 |
|
R4928:Smarcad1
|
UTSW |
6 |
65,051,898 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5619:Smarcad1
|
UTSW |
6 |
65,088,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5709:Smarcad1
|
UTSW |
6 |
65,051,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6038:Smarcad1
|
UTSW |
6 |
65,050,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6038:Smarcad1
|
UTSW |
6 |
65,050,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6220:Smarcad1
|
UTSW |
6 |
65,091,313 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6302:Smarcad1
|
UTSW |
6 |
65,052,122 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7014:Smarcad1
|
UTSW |
6 |
65,029,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Smarcad1
|
UTSW |
6 |
65,029,716 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7378:Smarcad1
|
UTSW |
6 |
65,087,360 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7569:Smarcad1
|
UTSW |
6 |
65,029,695 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7626:Smarcad1
|
UTSW |
6 |
65,073,033 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7774:Smarcad1
|
UTSW |
6 |
65,084,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Smarcad1
|
UTSW |
6 |
65,029,766 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8119:Smarcad1
|
UTSW |
6 |
65,071,303 (GRCm39) |
missense |
probably benign |
|
|
R8129:Smarcad1
|
UTSW |
6 |
65,044,078 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8558:Smarcad1
|
UTSW |
6 |
65,060,908 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8679:Smarcad1
|
UTSW |
6 |
65,088,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8770:Smarcad1
|
UTSW |
6 |
65,029,718 (GRCm39) |
missense |
probably benign |
|
|
R8795:Smarcad1
|
UTSW |
6 |
65,049,033 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9104:Smarcad1
|
UTSW |
6 |
65,075,649 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9133:Smarcad1
|
UTSW |
6 |
65,049,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9400:Smarcad1
|
UTSW |
6 |
65,050,214 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9401:Smarcad1
|
UTSW |
6 |
65,071,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9608:Smarcad1
|
UTSW |
6 |
65,091,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation