Incidental Mutation 'R4697:Smarcad1'
| ID |
355768 |
| 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 |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65029625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 71
(P71L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031984]
[ENSMUST00000204114]
[ENSMUST00000204620]
[ENSMUST00000204801]
[ENSMUST00000204955]
|
| AlphaFold |
Q04692 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031984
AA Change: P71L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: P71L
| 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 |
noncoding transcript
Transcript: ENSMUST00000203756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204114
|
| SMART Domains |
Protein: ENSMUSP00000145228
Gene: ENSMUSG00000029920
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204620
AA Change: P71L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920
AA Change: P71L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204801
AA Change: P71L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000145195
Gene: ENSMUSG00000029920
AA Change: P71L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204955
|
| SMART Domains |
Protein: ENSMUSP00000145152
Gene: ENSMUSG00000029920
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205092
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,243 (GRCm39) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,339,964 (GRCm39) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,549,509 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,789,314 (GRCm39) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,467,613 (GRCm39) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,502,446 (GRCm39) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 122,011,816 (GRCm39) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,244,931 (GRCm39) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,377,225 (GRCm39) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,832,473 (GRCm39) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 78,391,624 (GRCm39) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,902,640 (GRCm39) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,395,332 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,969,172 (GRCm39) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,235,581 (GRCm39) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,873,857 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,139,873 (GRCm39) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 30,739,286 (GRCm39) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,275,777 (GRCm39) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,524,531 (GRCm39) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,532,614 (GRCm39) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,672 (GRCm39) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,800 (GRCm39) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,212 (GRCm39) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,152 (GRCm39) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,858,980 (GRCm39) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,098 (GRCm39) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,471,242 (GRCm39) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,368 (GRCm39) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,821 (GRCm39) |
V379L |
probably benign |
Het |
| Or10ad1c |
G |
A |
15: 98,084,749 (GRCm39) |
R310W |
probably damaging |
Het |
| Or4c1 |
C |
A |
2: 89,133,246 (GRCm39) |
S230I |
possibly damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,247 (GRCm39) |
S230C |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,081 (GRCm39) |
D189E |
probably benign |
Het |
| Or5b12 |
C |
T |
19: 12,897,298 (GRCm39) |
C125Y |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,850,261 (GRCm39) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,608,989 (GRCm39) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,114,786 (GRCm39) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,282,492 (GRCm39) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,268,600 (GRCm39) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,528 (GRCm39) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,472,556 (GRCm39) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,211,925 (GRCm39) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,450,196 (GRCm39) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,199,288 (GRCm39) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,791,784 (GRCm39) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,722,741 (GRCm39) |
L381P |
probably damaging |
Het |
| Spns1 |
T |
A |
7: 125,976,209 (GRCm39) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,122,526 (GRCm39) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,870,479 (GRCm39) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,138 (GRCm39) |
N567K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,670,106 (GRCm39) |
K1543E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,142,375 (GRCm39) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 10,902,178 (GRCm39) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,244,532 (GRCm39) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,451 (GRCm39) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,785 (GRCm39) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,687,168 (GRCm39) |
I850F |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,390,671 (GRCm39) |
I455N |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,074,337 (GRCm39) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,354,487 (GRCm39) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,122,366 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTCAGTGGAAAGAAATTTTGG -3'
(R):5'- CTGACAGTGAAATGGCTTACAC -3'
Sequencing Primer
(F):5'- TGCTCTTCCAGAGGACCTAAG -3'
(R):5'- GGCTTACACTATAATCACTGTGTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation