Incidental Mutation 'R5864:Safb2'
| ID |
454096 |
| 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: 0.581)
|
| Stock # |
R5864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 56873491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000131056]
[ENSMUST00000133604]
[ENSMUST00000142940]
[ENSMUST00000154991]
[ENSMUST00000144255]
[ENSMUST00000155983]
|
| AlphaFold |
Q80YR5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000075510
AA Change: L724P
|
| SMART Domains |
Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: L724P
| 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 |
probably benign
Transcript: ENSMUST00000124111
|
| SMART Domains |
Protein: ENSMUSP00000120845
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127947
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131056
AA Change: L212P
|
| SMART Domains |
Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625
AA Change: L212P
| 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 |
unknown
Transcript: ENSMUST00000142940
AA Change: L88P
|
| SMART Domains |
Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625
AA Change: L88P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154991
AA Change: L89P
|
| SMART Domains |
Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625
AA Change: L89P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
180 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000134741
|
| 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: ENSMUST00000142752
|
| SMART Domains |
Protein: ENSMUSP00000119141
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
66 |
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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, 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
T |
12: 84,090,178 (GRCm39) |
I292F |
probably benign |
Het |
| Adamdec1 |
A |
G |
14: 68,807,551 (GRCm39) |
S370P |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,698,324 (GRCm39) |
K692R |
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,818,261 (GRCm39) |
|
probably null |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Bbs12 |
C |
T |
3: 37,373,639 (GRCm39) |
T144I |
probably damaging |
Het |
| C8g |
C |
T |
2: 25,388,955 (GRCm39) |
G186D |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,754,403 (GRCm39) |
F109S |
probably damaging |
Het |
| Coa8 |
G |
A |
12: 111,717,652 (GRCm39) |
V171I |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,252,973 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,078,501 (GRCm39) |
D400G |
probably damaging |
Het |
| Dgke |
G |
C |
11: 88,941,288 (GRCm39) |
Y298* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,297,159 (GRCm39) |
R1451Q |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,038,584 (GRCm39) |
D90G |
probably damaging |
Het |
| Dok7 |
A |
C |
5: 35,223,890 (GRCm39) |
D143A |
probably damaging |
Het |
| Elk3 |
G |
A |
10: 93,120,653 (GRCm39) |
A62V |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,738 (GRCm39) |
M58K |
probably damaging |
Het |
| Erp27 |
G |
T |
6: 136,885,098 (GRCm39) |
D233E |
probably benign |
Het |
| Gm5174 |
T |
A |
10: 86,493,045 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,760,107 (GRCm39) |
D214G |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,145,972 (GRCm39) |
E83K |
probably benign |
Het |
| Ifi35 |
A |
T |
11: 101,349,069 (GRCm39) |
I238F |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,467 (GRCm39) |
T983A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,403,374 (GRCm39) |
K2066N |
possibly damaging |
Het |
| Mansc1 |
T |
G |
6: 134,587,816 (GRCm39) |
|
probably null |
Het |
| Mapre3 |
T |
C |
5: 31,020,582 (GRCm39) |
F101S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,812,357 (GRCm39) |
T58A |
probably benign |
Het |
| Mical1 |
G |
T |
10: 41,362,064 (GRCm39) |
R857L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,550,581 (GRCm39) |
D870G |
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,702,607 (GRCm39) |
D118G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,325,380 (GRCm39) |
L26Q |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,312,671 (GRCm39) |
D25G |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,464,693 (GRCm39) |
S281P |
possibly damaging |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,814 (GRCm39) |
V696E |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 110,074,582 (GRCm39) |
A396S |
probably benign |
Het |
| Pecam1 |
G |
T |
11: 106,575,076 (GRCm39) |
C510* |
probably null |
Het |
| Pga5 |
C |
T |
19: 10,652,513 (GRCm39) |
G76S |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,571 (GRCm39) |
H435L |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,112 (GRCm39) |
R1884G |
possibly damaging |
Het |
| Ripk4 |
T |
C |
16: 97,564,782 (GRCm39) |
H43R |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,476 (GRCm39) |
V785A |
probably damaging |
Het |
| Sephs1 |
T |
C |
2: 4,910,393 (GRCm39) |
F288L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,586,266 (GRCm39) |
|
probably null |
Het |
| Siglece |
A |
G |
7: 43,308,741 (GRCm39) |
L204P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,857,151 (GRCm39) |
D380G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,033 (GRCm39) |
R126L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 42,003,669 (GRCm39) |
L209P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,095,925 (GRCm39) |
I310S |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,356,645 (GRCm39) |
T113A |
probably benign |
Het |
| Trav6-3 |
T |
A |
14: 53,667,628 (GRCm39) |
Y33* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,943 (GRCm39) |
E836G |
possibly damaging |
Het |
| Wdsub1 |
C |
T |
2: 59,708,819 (GRCm39) |
C18Y |
probably damaging |
Het |
| Zfp341 |
C |
A |
2: 154,485,474 (GRCm39) |
H637N |
possibly damaging |
Het |
| Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
| Zfp612 |
G |
A |
8: 110,816,358 (GRCm39) |
D522N |
probably damaging |
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 |
|
R0748:Safb2
|
UTSW |
17 |
56,882,580 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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'- GCTGGCCAATGAAAAGCACTAC -3'
(R):5'- TGAGTATGGGCAGCACTCAG -3'
Sequencing Primer
(F):5'- AGGACTGGTATCTGTACTCACCTAG -3'
(R):5'- TCAGGCCACAAACTGAGGTTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation