Incidental Mutation 'R4620:Sbf1'
| ID |
345269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf1
|
| Ensembl Gene |
ENSMUSG00000036529 |
| Gene Name |
SET binding factor 1 |
| Synonyms |
B230113C15Rik, 2610510A08Rik, Mtmr5 |
| MMRRC Submission |
042008-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R4620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89191129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 187
(S187P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123791]
[ENSMUST00000124576]
[ENSMUST00000144585]
[ENSMUST00000146637]
|
| AlphaFold |
Q6ZPE2 |
| PDB Structure |
Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123791
AA Change: S187P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
86 |
6.68e-31 |
SMART |
|
DENN
|
128 |
310 |
4.05e-71 |
SMART |
|
dDENN
|
363 |
432 |
1.28e-18 |
SMART |
|
Pfam:SBF2
|
540 |
764 |
4.1e-110 |
PFAM |
|
GRAM
|
882 |
968 |
3.93e-12 |
SMART |
|
Pfam:Myotub-related
|
1100 |
1534 |
6.2e-114 |
PFAM |
|
low complexity region
|
1614 |
1621 |
N/A |
INTRINSIC |
|
low complexity region
|
1652 |
1666 |
N/A |
INTRINSIC |
|
low complexity region
|
1719 |
1750 |
N/A |
INTRINSIC |
|
PH
|
1762 |
1867 |
6.45e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124576
AA Change: S187P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
86 |
6.68e-31 |
SMART |
|
DENN
|
128 |
310 |
4.05e-71 |
SMART |
|
Pfam:dDENN
|
363 |
403 |
4.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124642
|
| SMART Domains |
Protein: ENSMUSP00000119943
Gene: ENSMUSG00000036529
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF2
|
1 |
94 |
1.2e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144585
AA Change: S187P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
86 |
6.68e-31 |
SMART |
|
DENN
|
128 |
310 |
4.05e-71 |
SMART |
|
dDENN
|
363 |
432 |
1.28e-18 |
SMART |
|
Pfam:SBF2
|
542 |
764 |
2.3e-108 |
PFAM |
|
GRAM
|
882 |
968 |
3.93e-12 |
SMART |
|
Pfam:Myotub-related
|
1106 |
1558 |
5.7e-93 |
PFAM |
|
low complexity region
|
1640 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1678 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1745 |
1776 |
N/A |
INTRINSIC |
|
PH
|
1788 |
1893 |
6.45e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146637
AA Change: S87P
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122386
Gene: ENSMUSG00000036529
AA Change: S87P
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
20 |
210 |
8.29e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184827
|
| Meta Mutation Damage Score |
0.3054 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
99% (80/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,945,335 (GRCm39) |
Y433* |
probably null |
Het |
| Apba2 |
C |
T |
7: 64,364,215 (GRCm39) |
R331C |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,632 (GRCm39) |
M284L |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Blvra |
T |
C |
2: 126,938,885 (GRCm39) |
I287T |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,578 (GRCm39) |
Y347C |
probably damaging |
Het |
| Cdcp2 |
A |
G |
4: 106,963,927 (GRCm39) |
E259G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,665 (GRCm39) |
V85A |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,184,943 (GRCm39) |
I1169T |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,772,911 (GRCm39) |
V1043A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,805,619 (GRCm39) |
H1497L |
probably benign |
Het |
| Chat |
A |
G |
14: 32,175,775 (GRCm39) |
M95T |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,052,694 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,449,149 (GRCm39) |
E3615G |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,701,006 (GRCm39) |
|
probably null |
Het |
| Dll1 |
C |
T |
17: 15,590,828 (GRCm39) |
A332T |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,577,021 (GRCm39) |
Q159L |
probably benign |
Het |
| Dnai3 |
A |
T |
3: 145,748,564 (GRCm39) |
L850Q |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,132,741 (GRCm39) |
M212K |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,962 (GRCm39) |
F557L |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,190 (GRCm39) |
V2604D |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,395,586 (GRCm39) |
V1871A |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| H2-M3 |
C |
A |
17: 37,583,310 (GRCm39) |
T257K |
probably damaging |
Het |
| Hdgf |
A |
G |
3: 87,821,883 (GRCm39) |
N166S |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,236,599 (GRCm39) |
N226Y |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,586,246 (GRCm39) |
Y169H |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,849,075 (GRCm39) |
I426L |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,208,324 (GRCm39) |
V735A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,054,523 (GRCm39) |
A1880T |
possibly damaging |
Het |
| Miox |
A |
T |
15: 89,220,324 (GRCm39) |
Y172F |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,708,773 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ndufb7 |
T |
C |
8: 84,293,487 (GRCm39) |
S14P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,129,070 (GRCm39) |
H371Q |
probably damaging |
Het |
| Or10d5j |
C |
T |
9: 39,868,205 (GRCm39) |
V9M |
probably damaging |
Het |
| Or52e15 |
T |
A |
7: 104,645,830 (GRCm39) |
I94F |
probably damaging |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or8b12c |
A |
G |
9: 37,716,115 (GRCm39) |
T303A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,734,174 (GRCm39) |
D203E |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,245,265 (GRCm39) |
T1518A |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,395,563 (GRCm39) |
D602G |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,750,718 (GRCm39) |
V136I |
possibly damaging |
Het |
| Postn |
A |
C |
3: 54,284,414 (GRCm39) |
D627A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,337 (GRCm39) |
V25A |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,836,297 (GRCm39) |
I41T |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,243 (GRCm39) |
E514V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,474,025 (GRCm39) |
H372Q |
probably damaging |
Het |
| Ranbp1 |
A |
G |
16: 18,057,968 (GRCm39) |
|
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,426,526 (GRCm39) |
I317V |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,622 (GRCm39) |
Q279R |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,478 (GRCm39) |
C868Y |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,194,838 (GRCm39) |
A722T |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Themis2 |
A |
G |
4: 132,513,333 (GRCm39) |
W298R |
probably damaging |
Het |
| Tmem168 |
T |
G |
6: 13,594,952 (GRCm39) |
N37T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,845 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
| Trav5-4 |
G |
T |
14: 53,941,853 (GRCm39) |
M75I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,233,698 (GRCm39) |
G64E |
probably damaging |
Het |
| Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,054,011 (GRCm39) |
F1603Y |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,867,782 (GRCm39) |
L155Q |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp780b |
A |
T |
7: 27,662,178 (GRCm39) |
Y792* |
probably null |
Het |
|
| Other mutations in Sbf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00265:Sbf1
|
APN |
15 |
89,189,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01478:Sbf1
|
APN |
15 |
89,183,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01533:Sbf1
|
APN |
15 |
89,172,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01603:Sbf1
|
APN |
15 |
89,187,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Sbf1
|
APN |
15 |
89,187,418 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01908:Sbf1
|
APN |
15 |
89,186,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02067:Sbf1
|
APN |
15 |
89,173,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Sbf1
|
APN |
15 |
89,186,708 (GRCm39) |
nonsense |
probably null |
|
|
IGL02150:Sbf1
|
APN |
15 |
89,179,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02284:Sbf1
|
APN |
15 |
89,189,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02367:Sbf1
|
APN |
15 |
89,191,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02427:Sbf1
|
APN |
15 |
89,190,188 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03025:Sbf1
|
APN |
15 |
89,173,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03103:Sbf1
|
APN |
15 |
89,178,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03226:Sbf1
|
APN |
15 |
89,173,308 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03376:Sbf1
|
APN |
15 |
89,173,219 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03397:Sbf1
|
APN |
15 |
89,172,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0043:Sbf1
|
UTSW |
15 |
89,179,764 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0139:Sbf1
|
UTSW |
15 |
89,186,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Sbf1
|
UTSW |
15 |
89,172,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0624:Sbf1
|
UTSW |
15 |
89,186,532 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0759:Sbf1
|
UTSW |
15 |
89,188,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Sbf1
|
UTSW |
15 |
89,189,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Sbf1
|
UTSW |
15 |
89,178,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Sbf1
|
UTSW |
15 |
89,186,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Sbf1
|
UTSW |
15 |
89,190,896 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2844:Sbf1
|
UTSW |
15 |
89,187,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2845:Sbf1
|
UTSW |
15 |
89,187,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3788:Sbf1
|
UTSW |
15 |
89,183,731 (GRCm39) |
nonsense |
probably null |
|
|
R4108:Sbf1
|
UTSW |
15 |
89,172,788 (GRCm39) |
unclassified |
probably benign |
|
|
R4403:Sbf1
|
UTSW |
15 |
89,178,157 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4605:Sbf1
|
UTSW |
15 |
89,187,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Sbf1
|
UTSW |
15 |
89,179,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Sbf1
|
UTSW |
15 |
89,187,315 (GRCm39) |
nonsense |
probably null |
|
|
R4697:Sbf1
|
UTSW |
15 |
89,199,288 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4747:Sbf1
|
UTSW |
15 |
89,186,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Sbf1
|
UTSW |
15 |
89,172,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Sbf1
|
UTSW |
15 |
89,192,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Sbf1
|
UTSW |
15 |
89,189,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Sbf1
|
UTSW |
15 |
89,177,679 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6256:Sbf1
|
UTSW |
15 |
89,185,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6490:Sbf1
|
UTSW |
15 |
89,189,111 (GRCm39) |
missense |
probably benign |
|
|
R6933:Sbf1
|
UTSW |
15 |
89,184,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Sbf1
|
UTSW |
15 |
89,189,623 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7921:Sbf1
|
UTSW |
15 |
89,190,426 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8005:Sbf1
|
UTSW |
15 |
89,178,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8350:Sbf1
|
UTSW |
15 |
89,183,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8450:Sbf1
|
UTSW |
15 |
89,183,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8509:Sbf1
|
UTSW |
15 |
89,177,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Sbf1
|
UTSW |
15 |
89,179,662 (GRCm39) |
missense |
probably benign |
|
|
R8788:Sbf1
|
UTSW |
15 |
89,186,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Sbf1
|
UTSW |
15 |
89,173,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9516:Sbf1
|
UTSW |
15 |
89,184,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Sbf1
|
UTSW |
15 |
89,191,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9673:Sbf1
|
UTSW |
15 |
89,179,675 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTAAGGGCAGCACAGAAC -3'
(R):5'- GAGTTTTCTCTGCAGCGCTG -3'
Sequencing Primer
(F):5'- TGTCCCTACTCCATAACCCAGGG -3'
(R):5'- CTGCTCAGCCAACAGAGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation