Incidental Mutation 'R1763:Sbf1'
| ID |
193232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf1
|
| Ensembl Gene |
ENSMUSG00000036529 |
| Gene Name |
SET binding factor 1 |
| Synonyms |
B230113C15Rik, 2610510A08Rik, Mtmr5 |
| MMRRC Submission |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89288236-89315311 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89294425 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1449
(D1449G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123791]
[ENSMUST00000123791]
[ENSMUST00000123791]
[ENSMUST00000123791]
[ENSMUST00000124576]
[ENSMUST00000124576]
[ENSMUST00000124576]
[ENSMUST00000144585]
[ENSMUST00000144585]
[ENSMUST00000144585]
[ENSMUST00000144585]
|
| AlphaFold |
Q6ZPE2 |
| PDB Structure |
Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123791
AA Change: D1423G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: D1423G
| 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 |
possibly damaging
Transcript: ENSMUST00000123791
AA Change: D1423G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: D1423G
| 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 |
possibly damaging
Transcript: ENSMUST00000123791
AA Change: D1423G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: D1423G
| 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 |
possibly damaging
Transcript: ENSMUST00000123791
AA Change: D1423G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: D1423G
| 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: 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: 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 damaging
Transcript: ENSMUST00000144585
AA Change: D1449G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: D1449G
| 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 damaging
Transcript: ENSMUST00000144585
AA Change: D1449G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: D1449G
| 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 damaging
Transcript: ENSMUST00000144585
AA Change: D1449G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: D1449G
| 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 damaging
Transcript: ENSMUST00000144585
AA Change: D1449G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: D1449G
| 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: ENSMUST00000175778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177388
|
| Meta Mutation Damage Score |
0.2965 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,669,959 (GRCm38) |
V401A |
probably benign |
Het |
| Abca4 |
G |
A |
3: 122,110,681 (GRCm38) |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 122,163,830 (GRCm38) |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,608,339 (GRCm38) |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 67,147,715 (GRCm38) |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,332,483 (GRCm38) |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,174,991 (GRCm38) |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,585,015 (GRCm38) |
F321I |
probably benign |
Het |
| Atp5pb |
A |
G |
3: 105,951,589 (GRCm38) |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,619,084 (GRCm38) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,334,297 (GRCm38) |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,099,196 (GRCm38) |
V1121A |
probably benign |
Het |
| Cad |
G |
A |
5: 31,060,951 (GRCm38) |
V460I |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,843,121 (GRCm38) |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,354,636 (GRCm38) |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,799,406 (GRCm38) |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,367,880 (GRCm38) |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 63,099,252 (GRCm38) |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,895,425 (GRCm38) |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 72,007,176 (GRCm38) |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,886,979 (GRCm38) |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,465,031 (GRCm38) |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,458,119 (GRCm38) |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 55,080,176 (GRCm38) |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 55,084,139 (GRCm38) |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,795,671 (GRCm38) |
G15R |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,471,823 (GRCm38) |
V268L |
probably benign |
Het |
| F2 |
A |
C |
2: 91,634,906 (GRCm38) |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,192,535 (GRCm38) |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,502,266 (GRCm38) |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,893,622 (GRCm38) |
R347Q |
possibly damaging |
Het |
| Gabbr1 |
T |
G |
17: 37,054,767 (GRCm38) |
S158A |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,234,266 (GRCm38) |
N295S |
probably damaging |
Het |
| Gm6408 |
A |
T |
5: 146,482,322 (GRCm38) |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 11,079,866 (GRCm38) |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,867 (GRCm38) |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,314,590 (GRCm38) |
D59G |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,723,077 (GRCm38) |
|
probably null |
Het |
| Ifi27 |
C |
T |
12: 103,437,682 (GRCm38) |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 91,096,481 (GRCm38) |
N329S |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,265,877 (GRCm38) |
T479A |
probably benign |
Het |
| Krt12 |
T |
A |
11: 99,416,060 (GRCm38) |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,907,191 (GRCm38) |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,650,252 (GRCm38) |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,000,757 (GRCm38) |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 40,551,811 (GRCm38) |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,334,576 (GRCm38) |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,683,410 (GRCm38) |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,459,337 (GRCm38) |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,521,647 (GRCm38) |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,808,271 (GRCm38) |
S1733T |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,225,430 (GRCm38) |
F102L |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,592,436 (GRCm38) |
I211V |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,881,129 (GRCm38) |
G101E |
probably damaging |
Het |
| Or6z1 |
T |
G |
7: 6,501,441 (GRCm38) |
I262L |
probably benign |
Het |
| Or8b44 |
A |
G |
9: 38,499,038 (GRCm38) |
Y123C |
probably damaging |
Het |
| Paqr7 |
A |
T |
4: 134,507,098 (GRCm38) |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,439,630 (GRCm38) |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,713,595 (GRCm38) |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,348,547 (GRCm38) |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 91,055,995 (GRCm38) |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,842,542 (GRCm38) |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,978,170 (GRCm38) |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm38) |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 (GRCm38) |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,910,640 (GRCm38) |
R154Q |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 45,001,605 (GRCm38) |
R708* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,290,428 (GRCm38) |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,058 (GRCm38) |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,942,587 (GRCm38) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 45,287,734 (GRCm38) |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,812,731 (GRCm38) |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 31,168,416 (GRCm38) |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,667,965 (GRCm38) |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,834,949 (GRCm38) |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,602,784 (GRCm38) |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,372,368 (GRCm38) |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,294,618 (GRCm38) |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,638,066 (GRCm38) |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,194,822 (GRCm38) |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,520,428 (GRCm38) |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,895,376 (GRCm38) |
L388P |
possibly damaging |
Het |
|
| Other mutations in Sbf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00265:Sbf1
|
APN |
15 |
89,305,575 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01478:Sbf1
|
APN |
15 |
89,299,743 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01533:Sbf1
|
APN |
15 |
89,288,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01603:Sbf1
|
APN |
15 |
89,303,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01758:Sbf1
|
APN |
15 |
89,303,215 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01908:Sbf1
|
APN |
15 |
89,302,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02067:Sbf1
|
APN |
15 |
89,289,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02089:Sbf1
|
APN |
15 |
89,302,505 (GRCm38) |
nonsense |
probably null |
|
|
IGL02150:Sbf1
|
APN |
15 |
89,295,480 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02284:Sbf1
|
APN |
15 |
89,305,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02367:Sbf1
|
APN |
15 |
89,307,572 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02427:Sbf1
|
APN |
15 |
89,305,985 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03025:Sbf1
|
APN |
15 |
89,289,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03103:Sbf1
|
APN |
15 |
89,293,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03226:Sbf1
|
APN |
15 |
89,289,105 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03376:Sbf1
|
APN |
15 |
89,289,016 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03397:Sbf1
|
APN |
15 |
89,288,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0043:Sbf1
|
UTSW |
15 |
89,295,561 (GRCm38) |
missense |
probably benign |
0.26 |
|
R0139:Sbf1
|
UTSW |
15 |
89,302,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0528:Sbf1
|
UTSW |
15 |
89,288,712 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0624:Sbf1
|
UTSW |
15 |
89,302,329 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0759:Sbf1
|
UTSW |
15 |
89,304,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1555:Sbf1
|
UTSW |
15 |
89,305,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2025:Sbf1
|
UTSW |
15 |
89,302,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2207:Sbf1
|
UTSW |
15 |
89,306,693 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2844:Sbf1
|
UTSW |
15 |
89,303,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2845:Sbf1
|
UTSW |
15 |
89,303,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3788:Sbf1
|
UTSW |
15 |
89,299,528 (GRCm38) |
nonsense |
probably null |
|
|
R4108:Sbf1
|
UTSW |
15 |
89,288,585 (GRCm38) |
unclassified |
probably benign |
|
|
R4403:Sbf1
|
UTSW |
15 |
89,293,954 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4605:Sbf1
|
UTSW |
15 |
89,303,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4620:Sbf1
|
UTSW |
15 |
89,306,926 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4666:Sbf1
|
UTSW |
15 |
89,295,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4696:Sbf1
|
UTSW |
15 |
89,303,112 (GRCm38) |
nonsense |
probably null |
|
|
R4697:Sbf1
|
UTSW |
15 |
89,315,085 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4747:Sbf1
|
UTSW |
15 |
89,302,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5828:Sbf1
|
UTSW |
15 |
89,288,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5841:Sbf1
|
UTSW |
15 |
89,308,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6185:Sbf1
|
UTSW |
15 |
89,305,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6237:Sbf1
|
UTSW |
15 |
89,293,476 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6256:Sbf1
|
UTSW |
15 |
89,300,867 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6490:Sbf1
|
UTSW |
15 |
89,304,908 (GRCm38) |
missense |
probably benign |
|
|
R6933:Sbf1
|
UTSW |
15 |
89,300,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7806:Sbf1
|
UTSW |
15 |
89,305,420 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7921:Sbf1
|
UTSW |
15 |
89,306,223 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8005:Sbf1
|
UTSW |
15 |
89,294,205 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8350:Sbf1
|
UTSW |
15 |
89,299,509 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8450:Sbf1
|
UTSW |
15 |
89,299,509 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8509:Sbf1
|
UTSW |
15 |
89,293,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8753:Sbf1
|
UTSW |
15 |
89,295,459 (GRCm38) |
missense |
probably benign |
|
|
R8788:Sbf1
|
UTSW |
15 |
89,301,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9182:Sbf1
|
UTSW |
15 |
89,289,603 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9516:Sbf1
|
UTSW |
15 |
89,300,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9608:Sbf1
|
UTSW |
15 |
89,307,605 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9673:Sbf1
|
UTSW |
15 |
89,295,472 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCCACTAGCAGTCGGAAGCC -3'
(R):5'- CCCAGTGAAAACTAGAGTGCTGAGG -3'
Sequencing Primer
(F):5'- TCGGAAGCCTTCCAGAGTG -3'
(R):5'- caaccaccaccacaccc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation