Incidental Mutation 'R5180:Smarcc2'
| ID |
399744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarcc2
|
| Ensembl Gene |
ENSMUSG00000025369 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
| Synonyms |
5930405J04Rik |
| MMRRC Submission |
042760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R5180 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128295117-128326351 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CCAGCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGCAGC
at 128323231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026433]
[ENSMUST00000099131]
[ENSMUST00000105235]
[ENSMUST00000164181]
[ENSMUST00000217733]
[ENSMUST00000217776]
[ENSMUST00000218228]
[ENSMUST00000219236]
[ENSMUST00000220307]
[ENSMUST00000218127]
[ENSMUST00000220427]
[ENSMUST00000217969]
|
| AlphaFold |
Q6PDG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026433
|
| SMART Domains |
Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
CHROMO
|
186 |
235 |
5.97e-6 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
424 |
512 |
4.9e-38 |
PFAM |
|
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
|
SANT
|
597 |
645 |
9.04e-12 |
SMART |
|
low complexity region
|
768 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
906 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1098 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099131
|
| SMART Domains |
Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
CHROMO
|
186 |
235 |
5.97e-6 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
424 |
512 |
3.9e-38 |
PFAM |
|
SANT
|
628 |
676 |
9.04e-12 |
SMART |
|
low complexity region
|
799 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
910 |
N/A |
INTRINSIC |
|
coiled coil region
|
937 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1093 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105235
|
| SMART Domains |
Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
CHROMO
|
186 |
235 |
5.97e-6 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
426 |
512 |
4.5e-35 |
PFAM |
|
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
|
SANT
|
597 |
645 |
9.04e-12 |
SMART |
|
Pfam:SWIRM-assoc_3
|
684 |
750 |
4.1e-34 |
PFAM |
|
low complexity region
|
768 |
816 |
N/A |
INTRINSIC |
|
Pfam:SWIRM-assoc_1
|
863 |
946 |
1.5e-34 |
PFAM |
|
low complexity region
|
948 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1077 |
1093 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1123 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164181
|
| SMART Domains |
Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
11 |
39 |
8.98e-4 |
SMART |
|
EFh
|
88 |
116 |
3.64e1 |
SMART |
|
EFh
|
123 |
151 |
6.63e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218813
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,986,358 (GRCm39) |
Q273K |
probably benign |
Het |
| Ankrd35 |
C |
A |
3: 96,587,789 (GRCm39) |
H109Q |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
| Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
| Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
| Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
| Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
| Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
| Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
| Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
| Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
| Pde4d |
A |
G |
13: 109,877,007 (GRCm39) |
N73S |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
| Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
| Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
A |
3: 54,616,506 (GRCm39) |
H254Q |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,509,216 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smarcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Smarcc2
|
APN |
10 |
128,298,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01450:Smarcc2
|
APN |
10 |
128,305,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01638:Smarcc2
|
APN |
10 |
128,323,943 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01663:Smarcc2
|
APN |
10 |
128,324,846 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02308:Smarcc2
|
APN |
10 |
128,318,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Smarcc2
|
APN |
10 |
128,297,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02633:Smarcc2
|
APN |
10 |
128,305,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03375:Smarcc2
|
APN |
10 |
128,318,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03493:Smarcc2
|
APN |
10 |
128,297,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Smarcc2
|
UTSW |
10 |
128,298,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Smarcc2
|
UTSW |
10 |
128,319,505 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0281:Smarcc2
|
UTSW |
10 |
128,310,591 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1299:Smarcc2
|
UTSW |
10 |
128,297,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Smarcc2
|
UTSW |
10 |
128,305,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1466:Smarcc2
|
UTSW |
10 |
128,310,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Smarcc2
|
UTSW |
10 |
128,310,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1498:Smarcc2
|
UTSW |
10 |
128,318,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1499:Smarcc2
|
UTSW |
10 |
128,299,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1616:Smarcc2
|
UTSW |
10 |
128,318,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Smarcc2
|
UTSW |
10 |
128,304,867 (GRCm39) |
intron |
probably benign |
|
|
R1767:Smarcc2
|
UTSW |
10 |
128,304,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1792:Smarcc2
|
UTSW |
10 |
128,299,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Smarcc2
|
UTSW |
10 |
128,310,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Smarcc2
|
UTSW |
10 |
128,324,210 (GRCm39) |
unclassified |
probably benign |
|
|
R2286:Smarcc2
|
UTSW |
10 |
128,299,612 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2367:Smarcc2
|
UTSW |
10 |
128,318,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2398:Smarcc2
|
UTSW |
10 |
128,305,551 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3084:Smarcc2
|
UTSW |
10 |
128,324,028 (GRCm39) |
unclassified |
probably benign |
|
|
R3085:Smarcc2
|
UTSW |
10 |
128,324,028 (GRCm39) |
unclassified |
probably benign |
|
|
R3777:Smarcc2
|
UTSW |
10 |
128,318,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4346:Smarcc2
|
UTSW |
10 |
128,304,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4967:Smarcc2
|
UTSW |
10 |
128,319,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4992:Smarcc2
|
UTSW |
10 |
128,310,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Smarcc2
|
UTSW |
10 |
128,297,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5071:Smarcc2
|
UTSW |
10 |
128,299,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Smarcc2
|
UTSW |
10 |
128,305,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5133:Smarcc2
|
UTSW |
10 |
128,297,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5231:Smarcc2
|
UTSW |
10 |
128,297,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Smarcc2
|
UTSW |
10 |
128,316,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5401:Smarcc2
|
UTSW |
10 |
128,301,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Smarcc2
|
UTSW |
10 |
128,323,943 (GRCm39) |
unclassified |
probably benign |
|
|
R5690:Smarcc2
|
UTSW |
10 |
128,320,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Smarcc2
|
UTSW |
10 |
128,319,996 (GRCm39) |
missense |
probably benign |
|
|
R6240:Smarcc2
|
UTSW |
10 |
128,323,893 (GRCm39) |
unclassified |
probably benign |
|
|
R6545:Smarcc2
|
UTSW |
10 |
128,319,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6713:Smarcc2
|
UTSW |
10 |
128,323,638 (GRCm39) |
splice site |
probably null |
|
|
R6934:Smarcc2
|
UTSW |
10 |
128,305,541 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7016:Smarcc2
|
UTSW |
10 |
128,321,198 (GRCm39) |
splice site |
probably null |
|
|
R7149:Smarcc2
|
UTSW |
10 |
128,318,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Smarcc2
|
UTSW |
10 |
128,323,917 (GRCm39) |
missense |
unknown |
|
|
R7395:Smarcc2
|
UTSW |
10 |
128,321,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Smarcc2
|
UTSW |
10 |
128,318,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Smarcc2
|
UTSW |
10 |
128,317,597 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8407:Smarcc2
|
UTSW |
10 |
128,318,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8468:Smarcc2
|
UTSW |
10 |
128,320,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8753:Smarcc2
|
UTSW |
10 |
128,319,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Smarcc2
|
UTSW |
10 |
128,301,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9325:Smarcc2
|
UTSW |
10 |
128,324,076 (GRCm39) |
missense |
unknown |
|
|
R9327:Smarcc2
|
UTSW |
10 |
128,321,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Smarcc2
|
UTSW |
10 |
128,323,310 (GRCm39) |
missense |
unknown |
|
|
R9686:Smarcc2
|
UTSW |
10 |
128,316,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9742:Smarcc2
|
UTSW |
10 |
128,297,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Smarcc2
|
UTSW |
10 |
128,297,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGTCTTCAGCCATGGTG -3'
(R):5'- TTCAGAAGGGCCCAAGCTTC -3'
Sequencing Primer
(F):5'- AGTCTTCAGCCATGGTGAGACAC -3'
(R):5'- AAGCTTCCAGGAGGGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation