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 |
89172439-89199514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89178628 bp (GRCm39)
|
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: 144,396,529 (GRCm39) |
V401A |
probably benign |
Het |
Abca4 |
G |
A |
3: 121,904,330 (GRCm39) |
V794M |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,957,479 (GRCm39) |
T772S |
probably damaging |
Het |
Acox3 |
G |
A |
5: 35,765,683 (GRCm39) |
|
probably null |
Het |
Adamts17 |
A |
G |
7: 66,797,463 (GRCm39) |
N1060S |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,214,150 (GRCm39) |
Y1346C |
probably benign |
Het |
Apol10b |
A |
T |
15: 77,469,215 (GRCm39) |
F321I |
probably benign |
Het |
Atp5pb |
A |
G |
3: 105,858,905 (GRCm39) |
|
probably null |
Het |
Bloc1s5 |
A |
G |
13: 38,803,060 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,153 (GRCm39) |
V1121A |
probably benign |
Het |
Cad |
G |
A |
5: 31,218,295 (GRCm39) |
V460I |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,744,619 (GRCm39) |
D935E |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,393,795 (GRCm39) |
K686N |
probably benign |
Het |
Ccnt2 |
T |
C |
1: 127,727,143 (GRCm39) |
F186L |
possibly damaging |
Het |
Cd5l |
G |
A |
3: 87,275,187 (GRCm39) |
|
probably null |
Het |
Chrna7 |
A |
G |
7: 62,749,000 (GRCm39) |
V494A |
probably benign |
Het |
Clec2i |
T |
G |
6: 128,872,388 (GRCm39) |
Y198* |
probably null |
Het |
Col22a1 |
A |
G |
15: 71,879,025 (GRCm39) |
V44A |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,794,263 (GRCm39) |
I666N |
probably damaging |
Het |
Cyp3a16 |
A |
T |
5: 145,401,841 (GRCm39) |
|
probably null |
Het |
Dlk1 |
G |
T |
12: 109,424,045 (GRCm39) |
C102F |
probably damaging |
Het |
Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,947,535 (GRCm39) |
H215L |
probably damaging |
Het |
Dus1l |
C |
G |
11: 120,686,497 (GRCm39) |
G15R |
probably benign |
Het |
Eps8l1 |
G |
T |
7: 4,474,822 (GRCm39) |
V268L |
probably benign |
Het |
F2 |
A |
C |
2: 91,465,251 (GRCm39) |
C104W |
probably damaging |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,329,832 (GRCm39) |
L74P |
unknown |
Het |
Frmd6 |
G |
A |
12: 70,940,396 (GRCm39) |
R347Q |
possibly damaging |
Het |
Gabbr1 |
T |
G |
17: 37,365,659 (GRCm39) |
S158A |
probably damaging |
Het |
Galc |
T |
C |
12: 98,200,525 (GRCm39) |
N295S |
probably damaging |
Het |
Gm6408 |
A |
T |
5: 146,419,132 (GRCm39) |
N49I |
probably damaging |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Grm8 |
C |
T |
6: 27,285,866 (GRCm39) |
V849I |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,204,602 (GRCm39) |
D59G |
probably damaging |
Het |
Iars1 |
G |
A |
13: 49,876,553 (GRCm39) |
|
probably null |
Het |
Ifi27l2a |
C |
T |
12: 103,403,941 (GRCm39) |
A127V |
possibly damaging |
Het |
Ikbip |
A |
G |
10: 90,932,343 (GRCm39) |
N329S |
probably damaging |
Het |
Ikbke |
T |
C |
1: 131,193,614 (GRCm39) |
T479A |
probably benign |
Het |
Krt12 |
T |
A |
11: 99,306,886 (GRCm39) |
N472I |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,743,025 (GRCm39) |
L193Q |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,704,401 (GRCm39) |
V128A |
probably benign |
Het |
Map4k4 |
C |
A |
1: 40,039,917 (GRCm39) |
|
probably benign |
Het |
Mtmr7 |
T |
C |
8: 41,004,852 (GRCm39) |
T575A |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,225,402 (GRCm39) |
A256T |
probably benign |
Het |
Napepld |
A |
G |
5: 21,888,408 (GRCm39) |
Y14H |
probably benign |
Het |
Npr1 |
T |
C |
3: 90,366,644 (GRCm39) |
T552A |
probably damaging |
Het |
Nudt15 |
A |
G |
14: 73,759,087 (GRCm39) |
F127S |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,965,614 (GRCm39) |
S1733T |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,321 (GRCm39) |
F102L |
probably benign |
Het |
Or4c102 |
A |
G |
2: 88,422,780 (GRCm39) |
I211V |
probably benign |
Het |
Or4c10b |
G |
A |
2: 89,711,473 (GRCm39) |
G101E |
probably damaging |
Het |
Or6z1 |
T |
G |
7: 6,504,440 (GRCm39) |
I262L |
probably benign |
Het |
Or8b44 |
A |
G |
9: 38,410,334 (GRCm39) |
Y123C |
probably damaging |
Het |
Paqr7 |
A |
T |
4: 134,234,409 (GRCm39) |
I89F |
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,019,543 (GRCm39) |
V706L |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,620,911 (GRCm39) |
I469N |
probably damaging |
Het |
Ppip5k1 |
A |
G |
2: 121,179,028 (GRCm39) |
Y233H |
probably damaging |
Het |
Psmc3 |
A |
G |
2: 90,886,340 (GRCm39) |
T166A |
possibly damaging |
Het |
Ptchd3 |
A |
T |
11: 121,733,368 (GRCm39) |
I753L |
probably benign |
Het |
Rad21 |
T |
C |
15: 51,841,566 (GRCm39) |
K50R |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs20 |
C |
T |
1: 4,980,863 (GRCm39) |
R154Q |
probably damaging |
Het |
Sema4g |
C |
T |
19: 44,990,044 (GRCm39) |
R708* |
probably null |
Het |
Septin9 |
T |
C |
11: 117,181,254 (GRCm39) |
I18T |
probably benign |
Het |
Serpinb6b |
A |
G |
13: 33,162,041 (GRCm39) |
E280G |
probably damaging |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,937,158 (GRCm39) |
W554* |
probably null |
Het |
Slco1a4 |
A |
C |
6: 141,758,457 (GRCm39) |
I518R |
probably benign |
Het |
Stab1 |
T |
A |
14: 30,890,373 (GRCm39) |
Q26L |
probably benign |
Het |
Stox1 |
A |
G |
10: 62,503,744 (GRCm39) |
F104L |
probably damaging |
Het |
Suco |
T |
C |
1: 161,662,518 (GRCm39) |
K638E |
possibly damaging |
Het |
Synpo |
T |
C |
18: 60,735,856 (GRCm39) |
K458E |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,229,565 (GRCm39) |
W2820R |
unknown |
Het |
Tmtc1 |
C |
A |
6: 148,196,116 (GRCm39) |
G499W |
probably damaging |
Het |
Tonsl |
A |
C |
15: 76,522,266 (GRCm39) |
S242R |
probably damaging |
Het |
Trpc4 |
G |
T |
3: 54,102,243 (GRCm39) |
S47I |
possibly damaging |
Het |
Zfp106 |
G |
A |
2: 120,350,909 (GRCm39) |
R1581C |
probably benign |
Het |
Zfp27 |
A |
G |
7: 29,594,801 (GRCm39) |
L388P |
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 |
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 |
|
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 |