Incidental Mutation 'R6555:Safb2'
ID |
522124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Safb2
|
Ensembl Gene |
ENSMUSG00000042625 |
Gene Name |
scaffold attachment factor B2 |
Synonyms |
|
MMRRC Submission |
044680-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.581)
|
Stock # |
R6555 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 56889982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000095224]
[ENSMUST00000133604]
[ENSMUST00000144255]
[ENSMUST00000155983]
[ENSMUST00000182533]
[ENSMUST00000182800]
|
AlphaFold |
Q80YR5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000075510
|
SMART Domains |
Protein: ENSMUSP00000074953 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 |
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: ENSMUST00000095224
|
SMART Domains |
Protein: ENSMUSP00000092849 Gene: ENSMUSG00000071054
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
SAP
|
31 |
65 |
7.15e-11 |
SMART |
coiled coil region
|
268 |
291 |
N/A |
INTRINSIC |
low complexity region
|
292 |
300 |
N/A |
INTRINSIC |
RRM
|
429 |
502 |
3.76e-19 |
SMART |
coiled coil region
|
651 |
728 |
N/A |
INTRINSIC |
low complexity region
|
760 |
778 |
N/A |
INTRINSIC |
low complexity region
|
885 |
898 |
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: ENSMUST00000140037
|
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 |
noncoding transcript
Transcript: ENSMUST00000146070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146958
|
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 |
noncoding transcript
Transcript: ENSMUST00000182031
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182533
|
SMART Domains |
Protein: ENSMUSP00000138277 Gene: ENSMUSG00000071054
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
SAP
|
31 |
65 |
7.15e-11 |
SMART |
coiled coil region
|
268 |
291 |
N/A |
INTRINSIC |
low complexity region
|
292 |
300 |
N/A |
INTRINSIC |
RRM
|
429 |
502 |
3.76e-19 |
SMART |
coiled coil region
|
651 |
728 |
N/A |
INTRINSIC |
low complexity region
|
760 |
778 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
low complexity region
|
887 |
900 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182800
|
Meta Mutation Damage Score |
0.9488 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,752,468 (GRCm39) |
I480V |
probably damaging |
Het |
Akap1 |
A |
T |
11: 88,735,708 (GRCm39) |
I351N |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,975,742 (GRCm39) |
M256V |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,498,258 (GRCm39) |
C421S |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,302,235 (GRCm39) |
D2631G |
probably damaging |
Het |
Cfap206 |
A |
G |
4: 34,719,049 (GRCm39) |
V319A |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 46,736,694 (GRCm39) |
W707R |
probably damaging |
Het |
Ctss |
T |
A |
3: 95,450,340 (GRCm39) |
L97* |
probably null |
Het |
Eif2ak4 |
A |
T |
2: 118,258,350 (GRCm39) |
N455Y |
probably damaging |
Het |
Ercc6 |
G |
A |
14: 32,239,064 (GRCm39) |
E51K |
probably benign |
Het |
Gm10318 |
G |
A |
10: 77,688,855 (GRCm39) |
|
probably benign |
Het |
Gp6 |
C |
T |
7: 4,387,929 (GRCm39) |
R180Q |
probably damaging |
Het |
Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
Igkv1-99 |
A |
G |
6: 68,519,300 (GRCm39) |
R85G |
probably damaging |
Het |
Il36a |
G |
A |
2: 24,114,611 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
T |
C |
6: 121,361,178 (GRCm39) |
H935R |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,380,965 (GRCm39) |
V94A |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,339,647 (GRCm39) |
K1088R |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,823,510 (GRCm39) |
N1494S |
probably benign |
Het |
Mta3 |
C |
T |
17: 84,015,875 (GRCm39) |
R26W |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,835,006 (GRCm39) |
R660G |
possibly damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or4q3 |
G |
A |
14: 50,583,303 (GRCm39) |
Q168* |
probably null |
Het |
Or5d16 |
T |
A |
2: 87,773,632 (GRCm39) |
E113D |
probably damaging |
Het |
Or8b51 |
C |
A |
9: 38,569,585 (GRCm39) |
M34I |
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,882,488 (GRCm39) |
T750A |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,937,473 (GRCm39) |
|
probably null |
Het |
Ppip5k1 |
T |
C |
2: 121,168,093 (GRCm39) |
E720G |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,140 (GRCm39) |
I133M |
possibly damaging |
Het |
Ptprn2 |
T |
C |
12: 117,190,820 (GRCm39) |
Y786H |
probably damaging |
Het |
Selp |
C |
T |
1: 163,969,171 (GRCm39) |
|
probably null |
Het |
Slc16a10 |
T |
C |
10: 39,956,774 (GRCm39) |
I122V |
probably benign |
Het |
Slc22a22 |
G |
A |
15: 57,122,527 (GRCm39) |
T131M |
probably benign |
Het |
Trmt2a |
A |
T |
16: 18,071,067 (GRCm39) |
I574F |
probably benign |
Het |
Tsen54 |
C |
T |
11: 115,711,519 (GRCm39) |
T156I |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,846,993 (GRCm39) |
N2592S |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,547,856 (GRCm39) |
R131H |
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 |
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 |
56,874,600 (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'- AAGCCACTGGTAAAACCTGACTTC -3'
(R):5'- ATTGTGAACACTTGCAACTGC -3'
Sequencing Primer
(F):5'- CATGGAGACTGGTAACCATTCCTG -3'
(R):5'- CATACTCTTTCCCATCAGGC -3'
|
Posted On |
2018-06-06 |