Incidental Mutation 'IGL02150:Sbf1'
| ID |
281941 |
| 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: 0.558)
|
| Stock # |
IGL02150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89179683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1308
(H1308R)
|
| 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: H1308R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: H1308R
| 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: H1334R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: H1334R
| 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 |
noncoding transcript
Transcript: ENSMUST00000150539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177388
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
| Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
| Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
| Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
| Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
| Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
| Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
| Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
| Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
| Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
| Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
| Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
| Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,148,526 (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 |
|
|
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 |
2015-04-16 |
Incidental Mutation