Incidental Mutation 'R1629:Smarcad1'
| ID |
172671 |
| 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 |
039666-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R1629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65044091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031984]
[ENSMUST00000204620]
|
| AlphaFold |
Q04692 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031984
AA Change: D221G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: D221G
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205092
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
C |
18: 59,087,691 (GRCm39) |
I574L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,806 (GRCm39) |
D457G |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,164 (GRCm39) |
K352E |
probably benign |
Het |
| Cdk14 |
A |
T |
5: 5,153,807 (GRCm39) |
H183Q |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,929,778 (GRCm39) |
T80A |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,226,105 (GRCm39) |
T351I |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,248,100 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
A |
3: 20,020,614 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,175 (GRCm39) |
V196E |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,992,353 (GRCm39) |
|
probably null |
Het |
| Dnm2 |
T |
A |
9: 21,415,754 (GRCm39) |
L642Q |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,212,480 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
G |
14: 121,780,986 (GRCm39) |
F2091L |
possibly damaging |
Het |
| Eaf2 |
A |
G |
16: 36,645,063 (GRCm39) |
V53A |
probably damaging |
Het |
| Fbl |
G |
T |
7: 27,874,212 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,159,610 (GRCm39) |
D2373G |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,316,735 (GRCm39) |
Y462C |
possibly damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,396,020 (GRCm39) |
F348I |
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,121 (GRCm39) |
I102N |
possibly damaging |
Het |
| Klhl11 |
T |
C |
11: 100,355,012 (GRCm39) |
T270A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,112,423 (GRCm39) |
S2288P |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,663,523 (GRCm39) |
E337G |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,402,208 (GRCm39) |
E549* |
probably null |
Het |
| Mmp3 |
G |
T |
9: 7,447,641 (GRCm39) |
V209F |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,601 (GRCm39) |
R1725W |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,910,312 (GRCm39) |
D1294E |
possibly damaging |
Het |
| Nrcam |
G |
A |
12: 44,610,769 (GRCm39) |
A496T |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,834 (GRCm39) |
T583A |
probably benign |
Het |
| Or5m3b |
A |
G |
2: 85,871,766 (GRCm39) |
T36A |
probably damaging |
Het |
| Ppig |
C |
A |
2: 69,566,217 (GRCm39) |
T128K |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,257,208 (GRCm39) |
C341S |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,271,528 (GRCm39) |
D374V |
probably damaging |
Het |
| Ranbp3l |
A |
C |
15: 9,065,068 (GRCm39) |
Q485P |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
A |
G |
4: 107,865,340 (GRCm39) |
Y276C |
probably damaging |
Het |
| Smn1 |
C |
A |
13: 100,264,404 (GRCm39) |
T45N |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,510 (GRCm39) |
S1086P |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,491 (GRCm39) |
Y45N |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,121 (GRCm39) |
H1943R |
possibly damaging |
Het |
| Tmem184c |
A |
C |
8: 78,329,551 (GRCm39) |
F170V |
possibly damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,791 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,466 (GRCm39) |
C98Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,386 (GRCm39) |
S421T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGCTATATCCATGCAATACACC -3'
(R):5'- GGTCTGACATCCAAACATTCAGCACAG -3'
Sequencing Primer
(F):5'- GCTATATCCATGCAATACACCTTTAC -3'
(R):5'- gcctactgaagccagaagac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation