Incidental Mutation 'R4726:Smarcad1'
ID |
358457 |
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 |
041989-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R4726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65052025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 6
(H6L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031984]
[ENSMUST00000204620]
|
AlphaFold |
Q04692 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031984
AA Change: H386L
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000031984 Gene: ENSMUSG00000029920 AA Change: H386L
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 damaging
Transcript: ENSMUST00000203411
AA Change: H6L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
0.0849 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (74/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,769,204 (GRCm39) |
A700S |
possibly damaging |
Het |
Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Ints3 |
A |
G |
3: 90,301,084 (GRCm39) |
S840P |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,534,586 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
Robo1 |
G |
A |
16: 72,768,931 (GRCm39) |
A499T |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
Zmiz1 |
T |
C |
14: 25,644,098 (GRCm39) |
|
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 |
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'- GTGCAGTGTGCTTCACAAAGTG -3'
(R):5'- CTGAAGACAATCTGACTATAAACGG -3'
Sequencing Primer
(F):5'- TGAAACAGAAAATTTCCGTGAAACC -3'
(R):5'- GACAATCTGACTATAAACGGTACTG -3'
|
Posted On |
2015-11-11 |