Incidental Mutation 'R4091:Smarcc1'
| ID |
317621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarcc1
|
| Ensembl Gene |
ENSMUSG00000032481 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 |
| Synonyms |
BAF155, SRG3, msp3 |
| MMRRC Submission |
041626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109961129-110069773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109993897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 247
(D247E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088716]
[ENSMUST00000197480]
[ENSMUST00000197984]
[ENSMUST00000199896]
|
| AlphaFold |
P97496 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088716
AA Change: D247E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: D247E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
CHROMO
|
214 |
260 |
3.06e-3 |
SMART |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
450 |
536 |
1.7e-33 |
PFAM |
|
SANT
|
618 |
666 |
4.52e-12 |
SMART |
|
Pfam:SWIRM-assoc_3
|
705 |
771 |
9.6e-35 |
PFAM |
|
low complexity region
|
830 |
839 |
N/A |
INTRINSIC |
|
Pfam:SWIRM-assoc_1
|
870 |
953 |
2.5e-34 |
PFAM |
|
low complexity region
|
955 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197480
AA Change: D247E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142629
Gene: ENSMUSG00000032481
AA Change: D247E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
CHROMO
|
214 |
260 |
3.06e-3 |
SMART |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197984
AA Change: D247E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: D247E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
CHROMO
|
214 |
260 |
3.06e-3 |
SMART |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
448 |
536 |
1.4e-35 |
PFAM |
|
SANT
|
618 |
666 |
4.52e-12 |
SMART |
|
low complexity region
|
710 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
885 |
N/A |
INTRINSIC |
|
coiled coil region
|
909 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199896
AA Change: D247E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: D247E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
CHROMO
|
214 |
260 |
3.06e-3 |
SMART |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
450 |
536 |
1.5e-33 |
PFAM |
|
SANT
|
618 |
666 |
4.52e-12 |
SMART |
|
Pfam:SWIRM-assoc_3
|
705 |
771 |
1.4e-34 |
PFAM |
|
low complexity region
|
830 |
839 |
N/A |
INTRINSIC |
|
Pfam:SWIRM-assoc_1
|
870 |
953 |
1.4e-34 |
PFAM |
|
low complexity region
|
955 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200237
|
| Meta Mutation Damage Score |
0.1186 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (61/62) |
| 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
| Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
| Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
| Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
| Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
| Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
| Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
| Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
| Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,282,415 (GRCm39) |
T745S |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
| Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,262,937 (GRCm39) |
N1034I |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,381,909 (GRCm39) |
V121M |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,652,883 (GRCm39) |
Y469N |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
| Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
possibly damaging |
Het |
|
| Other mutations in Smarcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Smarcc1
|
APN |
9 |
110,051,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Smarcc1
|
APN |
9 |
109,968,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01353:Smarcc1
|
APN |
9 |
109,964,734 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01401:Smarcc1
|
APN |
9 |
109,979,033 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01483:Smarcc1
|
APN |
9 |
110,051,128 (GRCm39) |
nonsense |
probably null |
|
|
IGL01679:Smarcc1
|
APN |
9 |
110,042,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Smarcc1
|
APN |
9 |
109,961,194 (GRCm39) |
intron |
probably benign |
|
|
IGL02498:Smarcc1
|
APN |
9 |
110,020,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Smarcc1
|
APN |
9 |
110,051,068 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03003:Smarcc1
|
APN |
9 |
110,035,168 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03284:Smarcc1
|
APN |
9 |
110,004,142 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0116:Smarcc1
|
UTSW |
9 |
109,976,172 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0403:Smarcc1
|
UTSW |
9 |
110,066,876 (GRCm39) |
splice site |
probably null |
|
|
R1436:Smarcc1
|
UTSW |
9 |
109,947,708 (GRCm39) |
unclassified |
probably benign |
|
|
R1583:Smarcc1
|
UTSW |
9 |
110,042,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Smarcc1
|
UTSW |
9 |
110,003,072 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1732:Smarcc1
|
UTSW |
9 |
110,014,888 (GRCm39) |
splice site |
probably benign |
|
|
R1833:Smarcc1
|
UTSW |
9 |
109,982,879 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1881:Smarcc1
|
UTSW |
9 |
110,004,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Smarcc1
|
UTSW |
9 |
109,947,411 (GRCm39) |
unclassified |
probably benign |
|
|
R2175:Smarcc1
|
UTSW |
9 |
109,993,877 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2215:Smarcc1
|
UTSW |
9 |
110,066,907 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2904:Smarcc1
|
UTSW |
9 |
110,003,043 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3899:Smarcc1
|
UTSW |
9 |
109,947,586 (GRCm39) |
unclassified |
probably benign |
|
|
R3900:Smarcc1
|
UTSW |
9 |
109,947,586 (GRCm39) |
unclassified |
probably benign |
|
|
R4012:Smarcc1
|
UTSW |
9 |
109,961,273 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4356:Smarcc1
|
UTSW |
9 |
110,025,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4881:Smarcc1
|
UTSW |
9 |
109,964,696 (GRCm39) |
start gained |
probably benign |
|
|
R4993:Smarcc1
|
UTSW |
9 |
110,004,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5110:Smarcc1
|
UTSW |
9 |
110,026,852 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5375:Smarcc1
|
UTSW |
9 |
110,020,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5655:Smarcc1
|
UTSW |
9 |
109,986,412 (GRCm39) |
missense |
probably null |
1.00 |
|
R5715:Smarcc1
|
UTSW |
9 |
110,025,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5767:Smarcc1
|
UTSW |
9 |
109,961,251 (GRCm39) |
intron |
probably benign |
|
|
R5816:Smarcc1
|
UTSW |
9 |
110,026,712 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6969:Smarcc1
|
UTSW |
9 |
110,025,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7068:Smarcc1
|
UTSW |
9 |
110,014,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Smarcc1
|
UTSW |
9 |
109,979,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7558:Smarcc1
|
UTSW |
9 |
109,976,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7903:Smarcc1
|
UTSW |
9 |
110,033,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8190:Smarcc1
|
UTSW |
9 |
110,031,602 (GRCm39) |
missense |
probably benign |
|
|
R8695:Smarcc1
|
UTSW |
9 |
110,002,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8842:Smarcc1
|
UTSW |
9 |
110,051,199 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9024:Smarcc1
|
UTSW |
9 |
110,015,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9131:Smarcc1
|
UTSW |
9 |
109,964,710 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9180:Smarcc1
|
UTSW |
9 |
109,964,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9279:Smarcc1
|
UTSW |
9 |
109,996,792 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9352:Smarcc1
|
UTSW |
9 |
110,035,220 (GRCm39) |
missense |
probably null |
1.00 |
|
R9538:Smarcc1
|
UTSW |
9 |
109,961,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9645:Smarcc1
|
UTSW |
9 |
109,986,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Smarcc1
|
UTSW |
9 |
110,035,153 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGGCAGCATCTATTTAGAATTC -3'
(R):5'- GCCAGAGTGACAACAGCTTTC -3'
Sequencing Primer
(F):5'- GAAAAGTCAGGTCTCCTACTTGTGC -3'
(R):5'- ATGTGTGCCTAGTCAACACG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation