Incidental Mutation 'R6038:Smarcad1'
ID |
479294 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044208-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R6038 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65050232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 284
(S284P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031984]
[ENSMUST00000204620]
|
AlphaFold |
Q04692 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031984
AA Change: S284P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031984 Gene: ENSMUSG00000029920 AA Change: S284P
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 |
|
Meta Mutation Damage Score |
0.0648 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 93.7%
- 20x: 76.5%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
Kndc1 |
CT |
C |
7: 139,503,691 (GRCm39) |
|
probably null |
Het |
Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
Marchf10 |
A |
G |
11: 105,292,877 (GRCm39) |
S72P |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
Syt16 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
probably benign |
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 |
IGL03131:Smarcad1
|
APN |
6 |
65,051,937 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |