Incidental Mutation 'IGL01603:Sbf1'
ID |
92224 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sbf1
|
Ensembl Gene |
ENSMUSG00000036529 |
Gene Name |
SET binding factor 1 |
Synonyms |
B230113C15Rik, 2610510A08Rik, Mtmr5 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
IGL01603
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89187481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 690
(V690E)
|
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: V690E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120725 Gene: ENSMUSG00000036529 AA Change: V690E
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 |
unknown
Transcript: ENSMUST00000124642
AA Change: V19E
|
SMART Domains |
Protein: ENSMUSP00000119943 Gene: ENSMUSG00000036529 AA Change: V19E
Domain | Start | End | E-Value | Type |
Pfam:SBF2
|
1 |
94 |
1.2e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144585
AA Change: V690E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118107 Gene: ENSMUSG00000036529 AA Change: V690E
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
T |
A |
17: 32,564,327 (GRCm39) |
D20V |
probably damaging |
Het |
Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
Cln3 |
T |
G |
7: 126,174,526 (GRCm39) |
N275T |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
Ctr9 |
C |
A |
7: 110,648,538 (GRCm39) |
A726D |
probably damaging |
Het |
Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,758,010 (GRCm39) |
D186V |
possibly damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
Serpinb2 |
T |
A |
1: 107,449,910 (GRCm39) |
S108T |
probably benign |
Het |
Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2013-12-09 |