Incidental Mutation 'R9400:Smarcad1'
| ID |
711050 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R9400 (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 65050214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 278
(Y278H)
|
| 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: Y278H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: Y278H
| 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: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
G |
17: 9,211,118 (GRCm39) |
N89S |
probably benign |
Het |
| 9930111J21Rik1 |
C |
T |
11: 48,839,244 (GRCm39) |
E448K |
possibly damaging |
Het |
| Acer1 |
G |
A |
17: 57,288,990 (GRCm39) |
T40M |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,893 (GRCm39) |
T467A |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,476,981 (GRCm39) |
D129G |
probably damaging |
Het |
| Ak8 |
T |
A |
2: 28,650,011 (GRCm39) |
I346N |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,291,875 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,282 (GRCm39) |
L516R |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,075,855 (GRCm39) |
R402L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,641 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,319,844 (GRCm39) |
D380G |
|
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chst2 |
T |
C |
9: 95,287,642 (GRCm39) |
S235G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,616,953 (GRCm39) |
V899A |
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,273,703 (GRCm39) |
S617P |
probably damaging |
Het |
| Etv5 |
A |
T |
16: 22,220,476 (GRCm39) |
F304I |
probably benign |
Het |
| Fmo9 |
T |
G |
1: 166,505,243 (GRCm39) |
E50A |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,478,841 (GRCm39) |
E199G |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,028,541 (GRCm39) |
G893D |
probably damaging |
Het |
| Gorab |
G |
T |
1: 163,224,567 (GRCm39) |
P78Q |
probably damaging |
Het |
| Gprc5a |
A |
G |
6: 135,055,558 (GRCm39) |
T2A |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,275,683 (GRCm39) |
I581T |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,248 (GRCm39) |
F199S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,070,677 (GRCm39) |
V426E |
possibly damaging |
Het |
| Jag2 |
G |
T |
12: 112,875,608 (GRCm39) |
Y838* |
probably null |
Het |
| Kat6b |
G |
T |
14: 21,659,826 (GRCm39) |
R210L |
probably damaging |
Het |
| Kctd11 |
C |
A |
11: 69,770,544 (GRCm39) |
E165* |
probably null |
Het |
| Knl1 |
T |
C |
2: 118,931,224 (GRCm39) |
V1980A |
probably damaging |
Het |
| Lilrb4b |
T |
C |
10: 51,357,319 (GRCm39) |
S52P |
probably benign |
Het |
| Lrp5 |
T |
G |
19: 3,635,272 (GRCm39) |
M1535L |
probably benign |
Het |
| Lrr1 |
A |
G |
12: 69,221,476 (GRCm39) |
D206G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,899,677 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,502,025 (GRCm39) |
D241G |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,986,077 (GRCm39) |
Y237C |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,093 (GRCm39) |
E1489G |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,086,934 (GRCm39) |
H331R |
probably benign |
Het |
| Myoz1 |
T |
A |
14: 20,699,504 (GRCm39) |
H278L |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,554 (GRCm39) |
C240* |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,376,807 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4c104 |
A |
G |
2: 88,586,293 (GRCm39) |
I242T |
possibly damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,274 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Or5b24 |
T |
A |
19: 12,912,878 (GRCm39) |
Y259N |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,540,863 (GRCm39) |
|
probably null |
Het |
| Pcdha1 |
A |
G |
18: 37,064,760 (GRCm39) |
I475V |
probably benign |
Het |
| Pcgf1 |
A |
G |
6: 83,057,066 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pip |
C |
A |
6: 41,828,782 (GRCm39) |
T109K |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,932,689 (GRCm39) |
E59G |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,053 (GRCm39) |
I237V |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,595,267 (GRCm39) |
V543A |
probably benign |
Het |
| Slc9a2 |
T |
C |
1: 40,758,211 (GRCm39) |
V250A |
possibly damaging |
Het |
| Snx7 |
A |
T |
3: 117,630,863 (GRCm39) |
N248K |
probably benign |
Het |
| Spata6 |
T |
A |
4: 111,577,428 (GRCm39) |
C9S |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,885,293 (GRCm39) |
L587Q |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,830,293 (GRCm39) |
N916K |
possibly damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,385,516 (GRCm39) |
V319I |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,169,441 (GRCm39) |
I98K |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,215,367 (GRCm39) |
T1064A |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,175 (GRCm39) |
I332T |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,064 (GRCm39) |
L133Q |
probably damaging |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,687 (GRCm39) |
N167S |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,904 (GRCm39) |
C428S |
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 |
|
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 |
|
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 |
|
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'- AAGGTCACATTCCTATCCCTGTTG -3'
(R):5'- GTCTTGGCTATTACTATGGTGAAGAAC -3'
Sequencing Primer
(F):5'- ATGAGTTCAAGGCCATCCTG -3'
(R):5'- GCTATTACTATGGTGAAGAACAAGTC -3'
|
| Posted On |
2022-04-20 |
Incidental Mutation