Incidental Mutation 'R6220:Smarcad1'
| ID |
503946 |
| 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 |
044352-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R6220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65019577-65093045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65091313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 1011
(I1011M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031982]
[ENSMUST00000031984]
[ENSMUST00000204620]
|
| AlphaFold |
Q04692 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031982
|
| SMART Domains |
Protein: ENSMUSP00000031982
Gene: ENSMUSG00000029919
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
4 |
73 |
2.8e-13 |
PFAM |
|
Pfam:GST_N_3
|
14 |
79 |
2.9e-7 |
PFAM |
|
Pfam:GST_C
|
91 |
185 |
3.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031984
AA Change: I1011M
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: I1011M
| 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: ENSMUST00000203104
|
| 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: ENSMUST00000205250
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| Abhd16b |
A |
G |
2: 181,135,578 (GRCm39) |
D160G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,780,505 (GRCm39) |
F15S |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,625 (GRCm39) |
S153C |
probably damaging |
Het |
| Afp |
A |
T |
5: 90,652,269 (GRCm39) |
D420V |
possibly damaging |
Het |
| Ak9 |
T |
A |
10: 41,246,095 (GRCm39) |
H729Q |
unknown |
Het |
| Armh3 |
T |
C |
19: 45,834,554 (GRCm39) |
E618G |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bcr |
A |
G |
10: 74,898,124 (GRCm39) |
T423A |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ctns |
T |
C |
11: 73,083,954 (GRCm39) |
T23A |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,758,754 (GRCm39) |
N332K |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,126,727 (GRCm39) |
I1344N |
probably damaging |
Het |
| Elovl3 |
A |
T |
19: 46,122,939 (GRCm39) |
M172L |
probably benign |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,390,352 (GRCm39) |
N313K |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,437,947 (GRCm39) |
T716K |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10645 |
A |
G |
8: 83,892,386 (GRCm39) |
|
probably benign |
Het |
| Gm10735 |
T |
C |
13: 113,178,030 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,521,134 (GRCm39) |
L388P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,341,070 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,112 (GRCm39) |
L542H |
probably damaging |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,338 (GRCm39) |
N96I |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,439,803 (GRCm39) |
T182A |
probably benign |
Het |
| Jph4 |
T |
C |
14: 55,347,542 (GRCm39) |
E421G |
probably benign |
Het |
| Lrrc45 |
T |
C |
11: 120,610,353 (GRCm39) |
I488T |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,075,083 (GRCm39) |
I471T |
probably benign |
Het |
| Ms4a2 |
A |
T |
19: 11,594,927 (GRCm39) |
D96E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,547 (GRCm39) |
N68K |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,905,373 (GRCm39) |
M2075T |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,160,984 (GRCm39) |
K2229R |
probably null |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,987 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
C |
A |
11: 71,033,164 (GRCm39) |
S10I |
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,375,142 (GRCm39) |
T487S |
probably benign |
Het |
| Nrxn1 |
G |
C |
17: 91,395,904 (GRCm39) |
T84R |
probably benign |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,700 (GRCm39) |
C921R |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,531 (GRCm39) |
Y200C |
probably damaging |
Het |
| Pknox1 |
A |
T |
17: 31,822,177 (GRCm39) |
R315* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,410 (GRCm39) |
W726* |
probably null |
Het |
| Rassf8 |
G |
A |
6: 145,762,859 (GRCm39) |
R402H |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,698,775 (GRCm39) |
Y1091N |
probably damaging |
Het |
| Riok3 |
T |
G |
18: 12,282,608 (GRCm39) |
V349G |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,174,110 (GRCm39) |
V15E |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,788,268 (GRCm39) |
Y1323F |
possibly damaging |
Het |
| Rspry1 |
T |
C |
8: 95,385,378 (GRCm39) |
C437R |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,875 (GRCm39) |
Y996N |
probably damaging |
Het |
| Supv3l1 |
A |
T |
10: 62,274,800 (GRCm39) |
M295K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,113,134 (GRCm39) |
D605G |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,947 (GRCm39) |
W252* |
probably null |
Het |
| Tes |
T |
A |
6: 17,086,195 (GRCm39) |
C29* |
probably null |
Het |
| Thsd4 |
A |
G |
9: 59,890,030 (GRCm39) |
W856R |
probably damaging |
Het |
| Treml4 |
A |
T |
17: 48,571,876 (GRCm39) |
D93V |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,300 (GRCm39) |
T218A |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,973 (GRCm39) |
D128G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,819 (GRCm39) |
W1746R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,434 (GRCm39) |
I357V |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,807 (GRCm39) |
D86E |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,377 (GRCm39) |
H694Q |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,927,141 (GRCm39) |
F341L |
probably benign |
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 |
|
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'- CAGCTGTATAGGTTAGGTCAGG -3'
(R):5'- GATGTGAGGATCTGGAGAATCC -3'
Sequencing Primer
(F):5'- GGTCAGGTTTTTAATGAGATGACACC -3'
(R):5'- CCAGTTAGTGGCAAAAAGTTGTCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation