Incidental Mutation 'IGL01085:Safb2'
| ID |
53030 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Safb2
|
| Ensembl Gene |
ENSMUSG00000042625 |
| Gene Name |
scaffold attachment factor B2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56867965-56891585 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56872242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 197
(R197*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075510]
[ENSMUST00000131056]
[ENSMUST00000133604]
[ENSMUST00000142940]
[ENSMUST00000154991]
[ENSMUST00000144255]
|
| AlphaFold |
Q80YR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075510
AA Change: R832*
|
| SMART Domains |
Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: R832*
| 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 |
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: ENSMUST00000134741
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142940
AA Change: R196*
|
| SMART Domains |
Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625
AA Change: R196*
| 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 null
Transcript: ENSMUST00000154991
AA Change: R197*
|
| SMART Domains |
Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625
AA Change: R197*
| 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 |
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 |
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation