Incidental Mutation 'R0748:Safb2'
| ID |
70237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Safb2
|
| Ensembl Gene |
ENSMUSG00000042625 |
| Gene Name |
scaffold attachment factor B2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56882580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 351
(N351S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000131056]
[ENSMUST00000133604]
[ENSMUST00000144255]
[ENSMUST00000155983]
|
| AlphaFold |
Q80YR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075510
AA Change: N351S
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: N351S
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
25 |
59 |
8.21e-11 |
SMART |
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
coiled coil region
|
262 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
RRM
|
452 |
525 |
1.33e-19 |
SMART |
|
low complexity region
|
557 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
645 |
N/A |
INTRINSIC |
|
coiled coil region
|
658 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
944 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131056
|
| SMART Domains |
Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
coiled coil region
|
146 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133604
|
| SMART Domains |
Protein: ENSMUSP00000119324
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
25 |
59 |
8.21e-11 |
SMART |
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156640
|
| SMART Domains |
Protein: ENSMUSP00000118127
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144255
|
| SMART Domains |
Protein: ENSMUSP00000123673
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
25 |
59 |
8.21e-11 |
SMART |
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155983
|
| SMART Domains |
Protein: ENSMUSP00000116363
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
25 |
59 |
8.21e-11 |
SMART |
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016]
PHENOTYPE: Male homozyous mutant mice exhibit an increase in testis weight and an increased number of Sertoli cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Safb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Safb2
|
APN |
17 |
56,878,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00954:Safb2
|
APN |
17 |
56,885,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01085:Safb2
|
APN |
17 |
56,872,242 (GRCm39) |
nonsense |
probably null |
|
|
IGL03073:Safb2
|
APN |
17 |
56,878,289 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1297:Safb2
|
UTSW |
17 |
56,891,265 (GRCm39) |
unclassified |
probably benign |
|
|
R1876:Safb2
|
UTSW |
17 |
56,883,909 (GRCm39) |
splice site |
probably null |
|
|
R2921:Safb2
|
UTSW |
17 |
56,875,906 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3966:Safb2
|
UTSW |
17 |
56,882,356 (GRCm39) |
missense |
probably null |
1.00 |
|
R5140:Safb2
|
UTSW |
17 |
56,884,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5484:Safb2
|
UTSW |
17 |
56,882,346 (GRCm39) |
intron |
probably benign |
|
|
R5542:Safb2
|
UTSW |
17 |
56,882,647 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5602:Safb2
|
UTSW |
17 |
56,882,630 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5801:Safb2
|
UTSW |
17 |
56,870,103 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5864:Safb2
|
UTSW |
17 |
56,873,491 (GRCm39) |
unclassified |
probably benign |
|
|
R5985:Safb2
|
UTSW |
17 |
56,870,181 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6060:Safb2
|
UTSW |
17 |
56,870,246 (GRCm39) |
splice site |
probably null |
|
|
R6279:Safb2
|
UTSW |
17 |
56,870,226 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6300:Safb2
|
UTSW |
17 |
56,870,226 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6411:Safb2
|
UTSW |
17 |
56,878,289 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6555:Safb2
|
UTSW |
17 |
56,889,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6555:Safb2
|
UTSW |
17 |
56,874,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Safb2
|
UTSW |
17 |
56,871,594 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7515:Safb2
|
UTSW |
17 |
56,889,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7796:Safb2
|
UTSW |
17 |
56,873,327 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8186:Safb2
|
UTSW |
17 |
56,873,051 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8361:Safb2
|
UTSW |
17 |
56,890,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8918:Safb2
|
UTSW |
17 |
56,882,975 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Safb2
|
UTSW |
17 |
56,870,391 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9025:Safb2
|
UTSW |
17 |
56,873,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9176:Safb2
|
UTSW |
17 |
56,878,292 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9183:Safb2
|
UTSW |
17 |
56,878,292 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9184:Safb2
|
UTSW |
17 |
56,878,292 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9213:Safb2
|
UTSW |
17 |
56,882,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9522:Safb2
|
UTSW |
17 |
56,873,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Safb2
|
UTSW |
17 |
56,872,978 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1186:Safb2
|
UTSW |
17 |
56,870,246 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTCTGGTCTAGGACTGAGAATC -3'
(R):5'- CAGCAAGTCTGAGTCTCCAAGCAC -3'
Sequencing Primer
(F):5'- GACTCTTTAGGAGGCGCAG -3'
(R):5'- TCCAAGCACTCGGTGTCAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation