Incidental Mutation 'R6490:Sbf1'
| ID |
522814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf1
|
| Ensembl Gene |
ENSMUSG00000036529 |
| Gene Name |
SET binding factor 1 |
| Synonyms |
B230113C15Rik, 2610510A08Rik, Mtmr5 |
| MMRRC Submission |
044622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R6490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89189111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 537
(S537G)
|
| 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 benign
Transcript: ENSMUST00000123791
AA Change: S537G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: S537G
| 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 benign
Transcript: ENSMUST00000124576
|
| SMART Domains |
Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529
| 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 benign
Transcript: ENSMUST00000144585
AA Change: S537G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: S537G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000122386
Gene: ENSMUSG00000036529
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
20 |
210 |
8.29e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176028
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
G |
8: 122,267,293 (GRCm39) |
K38T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,661 (GRCm39) |
T2803A |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,596,613 (GRCm39) |
D565G |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,262,150 (GRCm39) |
T1067A |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,251,819 (GRCm39) |
Y1921* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,149,757 (GRCm39) |
N1604D |
probably benign |
Het |
| Atxn7 |
A |
T |
14: 14,089,446 (GRCm38) |
R321* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,361,968 (GRCm39) |
I104N |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,747,619 (GRCm39) |
S413P |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,732,073 (GRCm39) |
C2024Y |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,262,448 (GRCm39) |
V1388E |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,876,090 (GRCm39) |
V544M |
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,255,301 (GRCm39) |
T199I |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,952,191 (GRCm39) |
L569* |
probably null |
Het |
| Ctnna2 |
A |
G |
6: 77,120,892 (GRCm39) |
I12T |
probably benign |
Het |
| Dhx37 |
A |
G |
5: 125,496,196 (GRCm39) |
M754T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,395 (GRCm39) |
S249T |
possibly damaging |
Het |
| Ell |
G |
T |
8: 71,025,553 (GRCm39) |
S59I |
probably damaging |
Het |
| Fam89a |
G |
A |
8: 125,467,982 (GRCm39) |
S110F |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,889,834 (GRCm39) |
F278V |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,427,398 (GRCm39) |
I427T |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,832,365 (GRCm39) |
D250G |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,546 (GRCm39) |
V194A |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,360 (GRCm39) |
|
probably null |
Het |
| Gm7995 |
A |
G |
14: 42,133,327 (GRCm39) |
K69R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,822,329 (GRCm39) |
T379A |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,147 (GRCm39) |
A570S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,459,029 (GRCm39) |
I5192V |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,913,844 (GRCm39) |
I65F |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,236,992 (GRCm39) |
T1063K |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,930 (GRCm39) |
V381A |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,953,405 (GRCm39) |
D907G |
probably damaging |
Het |
| Jmjd8 |
T |
A |
17: 26,048,086 (GRCm39) |
V16E |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,387,449 (GRCm39) |
Y374C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,386,165 (GRCm39) |
V891I |
possibly damaging |
Het |
| Kif20a |
C |
A |
18: 34,762,543 (GRCm39) |
T472K |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,711,578 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,347,486 (GRCm39) |
S3070P |
unknown |
Het |
| Mettl21e |
T |
G |
1: 44,249,425 (GRCm39) |
Y77S |
probably damaging |
Het |
| Mlst8 |
G |
T |
17: 24,696,935 (GRCm39) |
D82E |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,617 (GRCm39) |
L67Q |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,750,237 (GRCm39) |
L1192Q |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,882,365 (GRCm39) |
Y520F |
unknown |
Het |
| Naip2 |
A |
T |
13: 100,297,193 (GRCm39) |
W948R |
probably benign |
Het |
| Nlrp9a |
A |
C |
7: 26,250,311 (GRCm39) |
K25N |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,212 (GRCm39) |
C414R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,274,374 (GRCm39) |
V142D |
possibly damaging |
Het |
| Or2aj6 |
C |
T |
16: 19,443,194 (GRCm39) |
V219M |
probably benign |
Het |
| P2ry6 |
T |
C |
7: 100,587,580 (GRCm39) |
T260A |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,771,196 (GRCm39) |
Q87R |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,727,086 (GRCm39) |
R557* |
probably null |
Het |
| Rgs13 |
G |
T |
1: 144,016,576 (GRCm39) |
H56N |
probably damaging |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,125,138 (GRCm39) |
L2624Q |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,954 (GRCm39) |
T23A |
probably benign |
Het |
| Tbl1xr1 |
C |
A |
3: 22,258,141 (GRCm39) |
H467Q |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,820,587 (GRCm39) |
S1222P |
possibly damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,759 (GRCm39) |
Q123H |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,463,862 (GRCm39) |
I379N |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,727,003 (GRCm39) |
I277F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,211 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,615,003 (GRCm39) |
V245D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,967,881 (GRCm39) |
M414K |
probably benign |
Het |
| Wrn |
T |
G |
8: 33,809,248 (GRCm39) |
L249F |
probably benign |
Het |
| Zc3h13 |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
14: 75,560,998 (GRCm39) |
|
probably benign |
Het |
| Zfp454 |
T |
C |
11: 50,764,950 (GRCm39) |
N161D |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,183,586 (GRCm39) |
G60R |
probably benign |
Het |
| Zfp623 |
T |
A |
15: 75,820,308 (GRCm39) |
H421Q |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,916,606 (GRCm39) |
|
probably benign |
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 |
|
R4620:Sbf1
|
UTSW |
15 |
89,191,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- ACACATAGGAGATGCAATTCCG -3'
(R):5'- TAGCCAATGTCTGCCCATGTTC -3'
Sequencing Primer
(F):5'- TAGGAGATGCAATTCCGTACTACCTC -3'
(R):5'- AATGTCTGCCCATGTTCCCTCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation