Incidental Mutation 'R6411:Safb2'
| ID |
514611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Safb2
|
| Ensembl Gene |
ENSMUSG00000042625 |
| Gene Name |
scaffold attachment factor B2 |
| Synonyms |
|
| MMRRC Submission |
044384-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.581)
|
| Stock # |
R6411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56878289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000131056]
[ENSMUST00000133604]
[ENSMUST00000144255]
[ENSMUST00000155983]
[ENSMUST00000154991]
[ENSMUST00000142940]
|
| AlphaFold |
Q80YR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075510
AA Change: S537P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: S537P
| 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 |
noncoding transcript
Transcript: ENSMUST00000127947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131056
AA Change: S24P
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625
AA Change: S24P
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154991
|
| SMART Domains |
Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625
| 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: ENSMUST00000142940
|
| SMART Domains |
Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
| Carmil2 |
G |
T |
8: 106,423,658 (GRCm39) |
D1211Y |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
| Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
| Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
| Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
| Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
| Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
| Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
| Rab8b |
A |
T |
9: 66,761,948 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,659,191 (GRCm39) |
W212R |
probably damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
Het |
| Zfp758 |
A |
T |
17: 22,594,075 (GRCm39) |
D155V |
possibly 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 |
|
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 |
|
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'- AGCTAACAAGCTGTCTGGC -3'
(R):5'- CAATGTCCACGTCAGATGAGG -3'
Sequencing Primer
(F):5'- AACAAGCTGTCTGGCTCTAG -3'
(R):5'- TGAGGCCACCAAATGCATTAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation