Incidental Mutation 'R1120:Smarcb1'
| ID |
226116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarcb1
|
| Ensembl Gene |
ENSMUSG00000000902 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
| Synonyms |
Ini1, SNF5/INI1, Baf47, Snf5, integrase interactor 1 |
| MMRRC Submission |
039193-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1120 (G1)
|
| Quality Score |
26 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75732603-75757448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75757157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 25
(F25L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000924]
[ENSMUST00000000925]
[ENSMUST00000120281]
[ENSMUST00000121304]
[ENSMUST00000132869]
[ENSMUST00000140388]
|
| AlphaFold |
Q9Z0H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000924
|
| SMART Domains |
Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
ZnMc
|
105 |
263 |
2.58e-57 |
SMART |
|
HX
|
302 |
345 |
1.16e-10 |
SMART |
|
HX
|
347 |
388 |
1.27e-7 |
SMART |
|
HX
|
391 |
438 |
7.63e-11 |
SMART |
|
HX
|
440 |
484 |
6.91e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000925
AA Change: F25L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: F25L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
179 |
254 |
1.1e-27 |
PFAM |
|
Pfam:SNF5
|
249 |
373 |
3.1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120281
|
| SMART Domains |
Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
ZnMc
|
105 |
263 |
2.58e-57 |
SMART |
|
HX
|
302 |
345 |
1.16e-10 |
SMART |
|
HX
|
347 |
388 |
1.27e-7 |
SMART |
|
HX
|
391 |
438 |
7.63e-11 |
SMART |
|
HX
|
440 |
484 |
6.91e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121304
AA Change: F25L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
AA Change: F25L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
169 |
364 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132869
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140388
AA Change: F25L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152222
|
| SMART Domains |
Protein: ENSMUSP00000116279
Gene: ENSMUSG00000000901
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
2 |
26 |
1e-8 |
BLAST |
|
HX
|
29 |
76 |
7.63e-11 |
SMART |
|
HX
|
78 |
117 |
1.91e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0678 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (40/40) |
| 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 part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
G |
5: 24,613,818 (GRCm39) |
|
probably null |
Het |
| Akp3 |
A |
T |
1: 87,053,159 (GRCm39) |
Q77L |
probably damaging |
Het |
| Blm |
A |
G |
7: 80,131,214 (GRCm39) |
L878S |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,561,550 (GRCm39) |
Y984H |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,838,793 (GRCm39) |
Q86R |
probably damaging |
Het |
| Cd2 |
C |
T |
3: 101,194,804 (GRCm39) |
D95N |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 17,990,826 (GRCm39) |
I438T |
possibly damaging |
Het |
| Crhbp |
G |
T |
13: 95,578,593 (GRCm39) |
T176K |
probably benign |
Het |
| D630045J12Rik |
G |
T |
6: 38,171,705 (GRCm39) |
T821K |
probably damaging |
Het |
| Disp1 |
T |
C |
1: 182,880,139 (GRCm39) |
D288G |
probably benign |
Het |
| Dsc3 |
A |
G |
18: 20,120,034 (GRCm39) |
V208A |
probably benign |
Het |
| Eef1e1 |
A |
T |
13: 38,842,910 (GRCm39) |
N20K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,201,001 (GRCm39) |
D187G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,514 (GRCm39) |
M1199K |
probably benign |
Het |
| Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
| Fxyd3 |
A |
G |
7: 30,770,803 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,052,084 (GRCm39) |
|
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,652,720 (GRCm39) |
|
probably benign |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Knl1 |
A |
G |
2: 118,892,856 (GRCm39) |
R51G |
probably damaging |
Het |
| Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,202,499 (GRCm39) |
D250V |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,491,662 (GRCm39) |
S357P |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Or4a27 |
A |
G |
2: 88,559,281 (GRCm39) |
Y221H |
probably damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,423 (GRCm39) |
M41T |
possibly damaging |
Het |
| Or9k2 |
A |
G |
10: 129,998,406 (GRCm39) |
L263P |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,351,730 (GRCm39) |
T568A |
possibly damaging |
Het |
| Ptprn |
A |
G |
1: 75,234,825 (GRCm39) |
I254T |
probably benign |
Het |
| Rab5b |
A |
C |
10: 128,515,483 (GRCm39) |
N188K |
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,504,792 (GRCm39) |
V154A |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,141 (GRCm39) |
Y1847* |
probably null |
Het |
| Smpd4 |
T |
C |
16: 17,456,350 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,429,502 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf26 |
G |
A |
7: 143,171,651 (GRCm39) |
R101C |
probably damaging |
Het |
| Trmu |
A |
G |
15: 85,774,486 (GRCm39) |
K37E |
possibly damaging |
Het |
| Tsen54 |
C |
T |
11: 115,705,839 (GRCm39) |
A52V |
probably damaging |
Het |
| Ubb |
T |
C |
11: 62,443,009 (GRCm39) |
I13T |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,797,723 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smarcb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01533:Smarcb1
|
APN |
10 |
75,752,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02399:Smarcb1
|
APN |
10 |
75,733,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Smarcb1
|
APN |
10 |
75,757,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0505:Smarcb1
|
UTSW |
10 |
75,732,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Smarcb1
|
UTSW |
10 |
75,733,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Smarcb1
|
UTSW |
10 |
75,752,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Smarcb1
|
UTSW |
10 |
75,751,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5157:Smarcb1
|
UTSW |
10 |
75,747,628 (GRCm39) |
intron |
probably benign |
|
|
R5632:Smarcb1
|
UTSW |
10 |
75,740,252 (GRCm39) |
nonsense |
probably null |
|
|
R5662:Smarcb1
|
UTSW |
10 |
75,740,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7472:Smarcb1
|
UTSW |
10 |
75,733,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Smarcb1
|
UTSW |
10 |
75,745,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9151:Smarcb1
|
UTSW |
10 |
75,750,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Smarcb1
|
UTSW |
10 |
75,741,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Smarcb1
|
UTSW |
10 |
75,740,345 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGACGCTCTAAGCTAGGACAGATG -3'
(R):5'- GTCGCTGAGAGGTTTTCCTCCTTAC -3'
Sequencing Primer
(F):5'- TGCTTAGGGTCTGAACAACG -3'
(R):5'- CCAAGGAGCCCAGTAGTGAC -3'
|
| Posted On |
2014-09-12 |
Incidental Mutation