Incidental Mutation 'R6237:Sbf1'
| ID |
505021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf1
|
| Ensembl Gene |
ENSMUSG00000036529 |
| Gene Name |
SET binding factor 1 |
| Synonyms |
B230113C15Rik, 2610510A08Rik, Mtmr5 |
| MMRRC Submission |
044362-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R6237 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89177679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1642
(R1642H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123791]
[ENSMUST00000124576]
[ENSMUST00000144585]
|
| AlphaFold |
Q6ZPE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123791
AA Change: R1642H
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: R1642H
| 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 |
noncoding transcript
Transcript: ENSMUST00000124398
|
| 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: ENSMUST00000144585
AA Change: R1668H
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: R1668H
| 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 |
unknown
Transcript: ENSMUST00000175778
AA Change: R189H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177388
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,342,502 (GRCm39) |
R380H |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,325,767 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,033,582 (GRCm39) |
M1020L |
possibly damaging |
Het |
| Cbx8 |
C |
A |
11: 118,931,213 (GRCm39) |
R25L |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,407 (GRCm39) |
Y633C |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,484,752 (GRCm39) |
S505N |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,839,810 (GRCm39) |
H539L |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,999 (GRCm39) |
D47E |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,608,607 (GRCm39) |
M1784R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,828 (GRCm39) |
L2520* |
probably null |
Het |
| E2f2 |
A |
G |
4: 135,905,796 (GRCm39) |
E103G |
possibly damaging |
Het |
| Eef1akmt3 |
T |
A |
10: 126,868,877 (GRCm39) |
H199L |
possibly damaging |
Het |
| Faxc |
A |
T |
4: 21,993,376 (GRCm39) |
N340I |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,497,026 (GRCm39) |
R1199* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,509,855 (GRCm39) |
D1439G |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,925,261 (GRCm39) |
W847C |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,337,793 (GRCm39) |
S303N |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,332 (GRCm39) |
K40* |
probably null |
Het |
| Gm4353 |
A |
C |
7: 115,683,134 (GRCm39) |
L149R |
possibly damaging |
Het |
| Grk5 |
A |
G |
19: 61,078,380 (GRCm39) |
D479G |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,486 (GRCm39) |
|
probably null |
Het |
| Hace1 |
T |
C |
10: 45,524,986 (GRCm39) |
Y251H |
probably benign |
Het |
| Hhla1 |
G |
T |
15: 65,813,646 (GRCm39) |
P229T |
probably damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,428 (GRCm39) |
Q156* |
probably null |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,683 (GRCm39) |
Y117N |
probably benign |
Het |
| Ikzf3 |
C |
A |
11: 98,357,879 (GRCm39) |
R486L |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,355,164 (GRCm39) |
T485M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,219,401 (GRCm39) |
Y131H |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,362 (GRCm39) |
P209L |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,448,094 (GRCm39) |
C39* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,255,700 (GRCm39) |
L519P |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,495,673 (GRCm39) |
I287T |
probably damaging |
Het |
| Mindy2 |
T |
C |
9: 70,512,480 (GRCm39) |
E590G |
possibly damaging |
Het |
| Mllt11 |
G |
T |
3: 95,127,602 (GRCm39) |
T56K |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,875,249 (GRCm39) |
R1551H |
probably damaging |
Het |
| Nmrk2 |
T |
C |
10: 81,036,796 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,831 (GRCm39) |
F203Y |
probably damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,365 (GRCm39) |
P79T |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,899 (GRCm39) |
D65G |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,957,131 (GRCm39) |
K1079* |
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,212,486 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Pnrc2 |
A |
T |
4: 135,599,397 (GRCm39) |
H117Q |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,749,455 (GRCm39) |
I1114F |
probably damaging |
Het |
| Rpl12 |
G |
A |
2: 32,853,000 (GRCm39) |
E72K |
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,873,118 (GRCm39) |
|
probably benign |
Het |
| Slc35c2 |
A |
T |
2: 165,122,617 (GRCm39) |
L194H |
probably damaging |
Het |
| Slfn4 |
T |
A |
11: 83,079,938 (GRCm39) |
Y150N |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,292,723 (GRCm39) |
R949G |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,415,618 (GRCm39) |
S28T |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,941,860 (GRCm39) |
S649P |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,929,728 (GRCm39) |
G1263V |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,069 (GRCm39) |
D114E |
possibly damaging |
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 |
|
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'- CACAGCTATCCCAAGTATGTAAGC -3'
(R):5'- TGCGACCCTACAGCAATGTG -3'
Sequencing Primer
(F):5'- CCCAAGTATGTAAGCAGTTCACATGG -3'
(R):5'- CTACAGCAATGTGTCCAATCTGAAGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation