Incidental Mutation 'R7796:Safb2'
| ID |
600253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Safb2
|
| Ensembl Gene |
ENSMUSG00000042625 |
| Gene Name |
scaffold attachment factor B2 |
| Synonyms |
|
| MMRRC Submission |
045852-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.581)
|
| Stock # |
R7796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56873327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 779
(R779G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000131056]
[ENSMUST00000133604]
[ENSMUST00000142940]
[ENSMUST00000144255]
[ENSMUST00000154991]
[ENSMUST00000155983]
|
| AlphaFold |
Q80YR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075510
AA Change: R779G
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: R779G
| 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 |
unknown
Transcript: ENSMUST00000131056
AA Change: R267G
|
| SMART Domains |
Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625
AA Change: R267G
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000142940
AA Change: R143G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625
AA Change: R143G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
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 |
possibly damaging
Transcript: ENSMUST00000154991
AA Change: R144G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625
AA Change: R144G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
180 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
T |
A |
16: 97,867,024 (GRCm39) |
I313F |
probably benign |
Het |
| Acot2 |
T |
A |
12: 84,035,257 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
G |
T |
4: 110,518,165 (GRCm39) |
G152V |
unknown |
Het |
| Arap2 |
A |
G |
5: 62,888,105 (GRCm39) |
S414P |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,157,497 (GRCm39) |
N735K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,833 (GRCm39) |
S1209G |
possibly damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dpf1 |
C |
G |
7: 29,011,106 (GRCm39) |
N168K |
possibly damaging |
Het |
| Dync1li2 |
T |
A |
8: 105,157,181 (GRCm39) |
Y184F |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,319,727 (GRCm39) |
T187A |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fndc3b |
G |
A |
3: 27,515,892 (GRCm39) |
T638I |
probably benign |
Het |
| Gm11564 |
A |
G |
11: 99,706,424 (GRCm39) |
V2A |
unknown |
Het |
| Gm3159 |
A |
G |
14: 4,400,560 (GRCm38) |
*206W |
probably null |
Het |
| Gm32742 |
A |
G |
9: 51,071,123 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
G |
A |
1: 166,469,819 (GRCm39) |
H85Y |
probably damaging |
Het |
| Gprc5c |
A |
T |
11: 114,755,358 (GRCm39) |
D345V |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,007,854 (GRCm39) |
Y1363* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,367,724 (GRCm39) |
V473A |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,032,350 (GRCm39) |
C28R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,321,965 (GRCm39) |
Y664H |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,698 (GRCm39) |
S32P |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,383,865 (GRCm39) |
V424A |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,759,634 (GRCm39) |
T201A |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,654 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,410,731 (GRCm39) |
T680N |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,923 (GRCm39) |
S1704P |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,901 (GRCm39) |
S194P |
probably benign |
Het |
| Nrsn2 |
T |
A |
2: 152,218,471 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
C |
T |
5: 73,452,290 (GRCm39) |
P27L |
probably damaging |
Het |
| Or13p5 |
T |
A |
4: 118,591,882 (GRCm39) |
I52N |
probably damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,157 (GRCm39) |
T89S |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,435,220 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,446 (GRCm39) |
I140V |
possibly damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,202,025 (GRCm39) |
N49D |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,727 (GRCm39) |
D432V |
possibly damaging |
Het |
| Pxdc1 |
T |
A |
13: 34,836,354 (GRCm39) |
N22I |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,865 (GRCm39) |
Y672H |
probably damaging |
Het |
| Rps23rg1 |
T |
C |
8: 3,634,160 (GRCm39) |
V111A |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,063,394 (GRCm39) |
G628S |
probably damaging |
Het |
| Smg5 |
A |
T |
3: 88,256,739 (GRCm39) |
Q299L |
probably damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,929,044 (GRCm39) |
L864S |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,119,212 (GRCm39) |
V119A |
probably benign |
Het |
| Tasp1 |
T |
C |
2: 139,850,705 (GRCm39) |
N106S |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,697,140 (GRCm39) |
N156K |
probably benign |
Het |
| Trav14n-3 |
T |
A |
14: 53,607,827 (GRCm39) |
Y52* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,665,222 (GRCm39) |
E11598G |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,542,873 (GRCm39) |
I376V |
probably benign |
Het |
| Ybx3 |
T |
C |
6: 131,345,479 (GRCm39) |
E298G |
probably damaging |
Het |
| Yipf7 |
T |
C |
5: 69,684,596 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,583 (GRCm39) |
A321T |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,444,029 (GRCm39) |
R391G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,654,982 (GRCm39) |
E492G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,673,403 (GRCm39) |
T51A |
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 |
|
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 |
|
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 |
|
|
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'- CCAAAGGTACCTCAGGATGG -3'
(R):5'- TCAGGCCACAAACTGAGGTTTC -3'
Sequencing Primer
(F):5'- CTCAGGATGGAGGCAGGCTG -3'
(R):5'- AACGGATGCAGCTCCAGTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation