Incidental Mutation 'PIT4403001:Smarcc2'
| ID |
555486 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
PIT4403001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128295117-128326351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128298893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 92
(H92L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026433]
[ENSMUST00000099131]
[ENSMUST00000105235]
[ENSMUST00000218228]
|
| AlphaFold |
Q6PDG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026433
AA Change: H92L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: H92L
| 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 |
possibly damaging
Transcript: ENSMUST00000099131
AA Change: H92L
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: H92L
| 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 damaging
Transcript: ENSMUST00000105235
AA Change: H92L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: H92L
| 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: ENSMUST00000218228
AA Change: H92L
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
| Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
| Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,982 (GRCm39) |
G348D |
probably damaging |
Het |
| Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
| Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
| Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
| Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
| Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,784,099 (GRCm39) |
Q607L |
possibly damaging |
Het |
| Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
| Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
| Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
| Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
| Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
| Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
| Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
| Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
| Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
| Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
| Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,637,535 (GRCm39) |
M132T |
probably damaging |
Het |
| Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
| Slc24a2 |
A |
G |
4: 86,950,523 (GRCm39) |
F425L |
probably benign |
Het |
| Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
| Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
| Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
| Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
| Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,609 (GRCm39) |
N436I |
possibly damaging |
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 |
|
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 |
|
|
R5180:Smarcc2
|
UTSW |
10 |
128,323,231 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CTTAAAAGGAGGCACTGGAATTTAG -3'
(R):5'- AAATGCGTGAGTCACTCCAC -3'
Sequencing Primer
(F):5'- AGGCACTGGAATTTAGATTTGC -3'
(R):5'- GGAGACTACTTTGGCCATGACATC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation