Incidental Mutation 'R7626:Smarcad1'
ID |
589443 |
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 |
045690-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R7626 (G1)
|
Quality Score |
186.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65073033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 604
(S604R)
|
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: S604R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000031984 Gene: ENSMUSG00000029920 AA Change: S604R
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
Fam98c |
G |
T |
7: 28,852,248 (GRCm39) |
R104S |
probably damaging |
Het |
Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Kcnj3 |
T |
A |
2: 55,484,833 (GRCm39) |
C310* |
probably null |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,310,110 (GRCm39) |
H68L |
probably benign |
Het |
Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
Pramel32 |
A |
T |
4: 88,548,279 (GRCm39) |
I42N |
probably damaging |
Het |
Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,805,718 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
probably null |
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 |
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 |
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 |
PCR Primer
(F):5'- GGTGTCACACATGTACTTACATAGC -3'
(R):5'- AGTATGACAGTGGCCACAGG -3'
Sequencing Primer
(F):5'- AAAGACCACATTGTGTCC -3'
(R):5'- AAAGAACTTTAAAGGAAAAGCTTGC -3'
|
Posted On |
2019-10-24 |