Incidental Mutation 'R8812:Sbf2'
ID |
672494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
068647-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R8812 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109929069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1471
(S1471T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: S1471T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371 AA Change: S1471T
Domain | Start | End | E-Value | Type |
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
DENN
|
116 |
298 |
5.68e-75 |
SMART |
dDENN
|
351 |
420 |
2e-20 |
SMART |
Pfam:SBF2
|
530 |
752 |
3.3e-106 |
PFAM |
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
low complexity region
|
1078 |
1089 |
N/A |
INTRINSIC |
Pfam:Myotub-related
|
1091 |
1544 |
8.3e-86 |
PFAM |
PH
|
1767 |
1872 |
3.05e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164599
|
SMART Domains |
Protein: ENSMUSP00000131927 Gene: ENSMUSG00000038371
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164759
AA Change: S1446T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371 AA Change: S1446T
Domain | Start | End | E-Value | Type |
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
DENN
|
116 |
298 |
5.68e-75 |
SMART |
dDENN
|
351 |
420 |
2e-20 |
SMART |
Pfam:SBF2
|
528 |
752 |
1.6e-107 |
PFAM |
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
Pfam:Myotub-related
|
1089 |
1521 |
1.6e-98 |
PFAM |
PH
|
1742 |
1847 |
3.05e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166020
AA Change: S1425T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371 AA Change: S1425T
Domain | Start | End | E-Value | Type |
uDENN
|
1 |
75 |
9.26e-1 |
SMART |
DENN
|
70 |
252 |
5.68e-75 |
SMART |
dDENN
|
305 |
374 |
2e-20 |
SMART |
Pfam:SBF2
|
482 |
706 |
1.6e-107 |
PFAM |
GRAM
|
823 |
909 |
1.3e-12 |
SMART |
Pfam:Myotub-related
|
1043 |
1500 |
5.9e-98 |
PFAM |
PH
|
1721 |
1826 |
3.05e-18 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]
|
Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9) |
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
A |
13: 77,480,471 (GRCm39) |
P1167Q |
probably damaging |
Het |
Abtb3 |
A |
G |
10: 85,463,113 (GRCm39) |
Q626R |
probably damaging |
Het |
Adcy10 |
A |
T |
1: 165,378,867 (GRCm39) |
Q885H |
probably damaging |
Het |
Alkal2 |
C |
T |
12: 30,940,055 (GRCm39) |
L139F |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,441,062 (GRCm39) |
M439K |
probably benign |
Het |
Arl11 |
C |
A |
14: 61,548,422 (GRCm39) |
Y77* |
probably null |
Het |
Bcas3 |
T |
C |
11: 85,449,973 (GRCm39) |
Y669H |
probably benign |
Het |
Bpifb3 |
C |
T |
2: 153,764,516 (GRCm39) |
A136V |
probably benign |
Het |
Ccne2 |
A |
G |
4: 11,202,279 (GRCm39) |
T345A |
probably benign |
Het |
Ciz1 |
T |
C |
2: 32,254,286 (GRCm39) |
S76P |
probably benign |
Het |
Clip4 |
A |
T |
17: 72,107,800 (GRCm39) |
K94* |
probably null |
Het |
Cthrc1 |
G |
A |
15: 38,947,866 (GRCm39) |
R195H |
probably damaging |
Het |
Ddx31 |
T |
C |
2: 28,730,816 (GRCm39) |
|
probably benign |
Het |
Elf2 |
T |
A |
3: 51,174,188 (GRCm39) |
D113V |
possibly damaging |
Het |
Esrrb |
A |
G |
12: 86,535,324 (GRCm39) |
N155S |
probably benign |
Het |
Flnb |
A |
G |
14: 7,887,624 (GRCm38) |
D478G |
probably benign |
Het |
Galm |
T |
A |
17: 80,435,215 (GRCm39) |
L24H |
probably damaging |
Het |
Gask1b |
T |
C |
3: 79,816,078 (GRCm39) |
S363P |
possibly damaging |
Het |
Gon4l |
G |
A |
3: 88,802,314 (GRCm39) |
G975D |
possibly damaging |
Het |
Hspbp1 |
T |
G |
7: 4,667,783 (GRCm39) |
M237L |
probably benign |
Het |
Ighv1-62-1 |
A |
T |
12: 115,350,367 (GRCm39) |
M100K |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,676,575 (GRCm39) |
D971E |
possibly damaging |
Het |
Itgax |
C |
T |
7: 127,732,979 (GRCm39) |
A286V |
probably damaging |
Het |
Jpt2 |
T |
C |
17: 25,179,578 (GRCm39) |
Q3R |
probably benign |
Het |
Katnip |
A |
C |
7: 125,396,867 (GRCm39) |
R309S |
probably benign |
Het |
Klrg2 |
A |
C |
6: 38,613,838 (GRCm39) |
L55R |
probably damaging |
Het |
Lrp6 |
T |
A |
6: 134,433,141 (GRCm39) |
M1397L |
probably benign |
Het |
Lrrc31 |
T |
A |
3: 30,733,328 (GRCm39) |
Q462L |
probably benign |
Het |
Lyg2 |
T |
A |
1: 37,949,054 (GRCm39) |
I103F |
probably damaging |
Het |
Map10 |
T |
C |
8: 126,396,664 (GRCm39) |
V19A |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,569,323 (GRCm39) |
M1133L |
unknown |
Het |
Mrgpra4 |
A |
G |
7: 47,631,481 (GRCm39) |
V40A |
probably benign |
Het |
Myh1 |
G |
A |
11: 67,099,967 (GRCm39) |
G626R |
probably benign |
Het |
Myo9a |
T |
C |
9: 59,687,030 (GRCm39) |
V45A |
probably benign |
Het |
Ncdn |
A |
G |
4: 126,638,905 (GRCm39) |
F638S |
possibly damaging |
Het |
Ncs1 |
T |
A |
2: 31,174,213 (GRCm39) |
M121K |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,437,180 (GRCm39) |
V16A |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,579,317 (GRCm39) |
D1128E |
unknown |
Het |
Nup205 |
T |
G |
6: 35,191,269 (GRCm39) |
L1000R |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,925,921 (GRCm39) |
E5604G |
probably damaging |
Het |
Or1p4-ps1 |
T |
A |
11: 74,208,534 (GRCm39) |
S228T |
unknown |
Het |
Or2p2 |
T |
C |
13: 21,257,220 (GRCm39) |
N84D |
probably damaging |
Het |
Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
Or4c35 |
G |
T |
2: 89,808,715 (GRCm39) |
A198S |
possibly damaging |
Het |
Or51ah3 |
G |
T |
7: 103,209,816 (GRCm39) |
C44F |
probably benign |
Het |
Or5b96 |
A |
T |
19: 12,867,560 (GRCm39) |
V127E |
probably damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
Ovch2 |
T |
A |
7: 107,392,462 (GRCm39) |
I294F |
probably damaging |
Het |
Ovch2 |
A |
T |
7: 107,393,251 (GRCm39) |
C207* |
probably null |
Het |
P3h2 |
T |
A |
16: 25,801,467 (GRCm39) |
Y397F |
possibly damaging |
Het |
Pappa |
A |
T |
4: 65,123,166 (GRCm39) |
I834F |
possibly damaging |
Het |
Pcdha11 |
T |
C |
18: 37,140,716 (GRCm39) |
S782P |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,681,614 (GRCm39) |
V980A |
probably benign |
Het |
Pik3c2a |
G |
T |
7: 115,951,112 (GRCm39) |
L1258I |
probably damaging |
Het |
Pmp22 |
T |
A |
11: 63,049,239 (GRCm39) |
*161R |
probably null |
Het |
Ppp1r26 |
T |
A |
2: 28,341,192 (GRCm39) |
M274K |
probably benign |
Het |
Ppp6r2 |
T |
C |
15: 89,167,275 (GRCm39) |
V830A |
probably benign |
Het |
Pramel34 |
T |
C |
5: 93,785,660 (GRCm39) |
T207A |
possibly damaging |
Het |
Prss1 |
T |
A |
6: 41,439,520 (GRCm39) |
N84K |
probably benign |
Het |
Rab3il1 |
G |
A |
19: 10,004,141 (GRCm39) |
A18T |
probably damaging |
Het |
Setdb1 |
T |
A |
3: 95,263,371 (GRCm39) |
D45V |
probably damaging |
Het |
Sik3 |
G |
T |
9: 46,089,811 (GRCm39) |
V275L |
probably benign |
Het |
Skint6 |
C |
A |
4: 112,846,149 (GRCm39) |
M659I |
probably benign |
Het |
Slc24a1 |
T |
A |
9: 64,835,985 (GRCm39) |
D714V |
unknown |
Het |
Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
Stradb |
A |
G |
1: 59,033,478 (GRCm39) |
I380M |
probably benign |
Het |
Sult1e1 |
T |
C |
5: 87,735,501 (GRCm39) |
Y59C |
probably benign |
Het |
Tas2r122 |
C |
T |
6: 132,688,702 (GRCm39) |
A64T |
probably benign |
Het |
Tep1 |
C |
T |
14: 51,074,589 (GRCm39) |
C1812Y |
probably damaging |
Het |
Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
Trio |
A |
T |
15: 27,905,311 (GRCm39) |
C152S |
unknown |
Het |
Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
Vmn1r15 |
A |
G |
6: 57,235,123 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
G |
6: 57,381,436 (GRCm39) |
|
probably benign |
Het |
Vmn1r75 |
A |
G |
7: 11,614,630 (GRCm39) |
T121A |
possibly damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,477,669 (GRCm39) |
F241L |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,654,893 (GRCm39) |
L472P |
probably damaging |
Het |
Ylpm1 |
G |
T |
12: 85,043,566 (GRCm39) |
W101C |
unknown |
Het |
Zdbf2 |
C |
A |
1: 63,347,272 (GRCm39) |
H1884N |
probably benign |
Het |
Zfp1005 |
T |
A |
2: 150,109,624 (GRCm39) |
C105S |
possibly damaging |
Het |
|
Other mutations in Sbf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Sbf2
|
APN |
7 |
109,975,039 (GRCm39) |
splice site |
probably benign |
|
IGL01089:Sbf2
|
APN |
7 |
109,948,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01144:Sbf2
|
APN |
7 |
109,929,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01652:Sbf2
|
APN |
7 |
110,046,327 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01950:Sbf2
|
APN |
7 |
109,965,032 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02027:Sbf2
|
APN |
7 |
110,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02244:Sbf2
|
APN |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02376:Sbf2
|
APN |
7 |
110,062,163 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03405:Sbf2
|
APN |
7 |
110,062,139 (GRCm39) |
missense |
probably damaging |
0.98 |
N/A - 535:Sbf2
|
UTSW |
7 |
109,911,959 (GRCm39) |
missense |
probably benign |
|
R0084:Sbf2
|
UTSW |
7 |
110,041,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0092:Sbf2
|
UTSW |
7 |
109,920,013 (GRCm39) |
splice site |
probably benign |
|
R0121:Sbf2
|
UTSW |
7 |
110,088,426 (GRCm39) |
critical splice donor site |
probably null |
|
R0464:Sbf2
|
UTSW |
7 |
110,063,783 (GRCm39) |
splice site |
probably benign |
|
R0505:Sbf2
|
UTSW |
7 |
109,998,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0531:Sbf2
|
UTSW |
7 |
109,966,530 (GRCm39) |
splice site |
probably benign |
|
R0554:Sbf2
|
UTSW |
7 |
110,027,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Sbf2
|
UTSW |
7 |
109,929,890 (GRCm39) |
frame shift |
probably null |
|
R0619:Sbf2
|
UTSW |
7 |
109,909,469 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0799:Sbf2
|
UTSW |
7 |
109,940,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0898:Sbf2
|
UTSW |
7 |
109,970,859 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1077:Sbf2
|
UTSW |
7 |
109,966,379 (GRCm39) |
splice site |
probably benign |
|
R1167:Sbf2
|
UTSW |
7 |
109,963,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R1169:Sbf2
|
UTSW |
7 |
109,909,391 (GRCm39) |
missense |
probably benign |
0.04 |
R1424:Sbf2
|
UTSW |
7 |
109,914,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Sbf2
|
UTSW |
7 |
109,977,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Sbf2
|
UTSW |
7 |
110,027,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R1601:Sbf2
|
UTSW |
7 |
109,939,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1762:Sbf2
|
UTSW |
7 |
109,911,965 (GRCm39) |
missense |
probably benign |
|
R1771:Sbf2
|
UTSW |
7 |
110,060,353 (GRCm39) |
nonsense |
probably null |
|
R1989:Sbf2
|
UTSW |
7 |
109,948,130 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2109:Sbf2
|
UTSW |
7 |
110,060,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Sbf2
|
UTSW |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R2444:Sbf2
|
UTSW |
7 |
109,929,905 (GRCm39) |
missense |
probably benign |
0.31 |
R3765:Sbf2
|
UTSW |
7 |
109,974,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R3808:Sbf2
|
UTSW |
7 |
110,088,487 (GRCm39) |
makesense |
probably null |
|
R3895:Sbf2
|
UTSW |
7 |
110,046,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R3978:Sbf2
|
UTSW |
7 |
109,929,092 (GRCm39) |
missense |
probably benign |
0.00 |
R4056:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
R4057:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
R4111:Sbf2
|
UTSW |
7 |
110,027,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Sbf2
|
UTSW |
7 |
109,948,060 (GRCm39) |
critical splice donor site |
probably null |
|
R4670:Sbf2
|
UTSW |
7 |
109,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R4763:Sbf2
|
UTSW |
7 |
110,020,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Sbf2
|
UTSW |
7 |
109,950,817 (GRCm39) |
missense |
probably damaging |
0.98 |
R4811:Sbf2
|
UTSW |
7 |
109,971,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Sbf2
|
UTSW |
7 |
109,977,146 (GRCm39) |
intron |
probably benign |
|
R5110:Sbf2
|
UTSW |
7 |
109,963,864 (GRCm39) |
missense |
probably benign |
0.10 |
R5143:Sbf2
|
UTSW |
7 |
110,021,747 (GRCm39) |
nonsense |
probably null |
|
R5443:Sbf2
|
UTSW |
7 |
109,977,135 (GRCm39) |
intron |
probably benign |
|
R5457:Sbf2
|
UTSW |
7 |
109,912,037 (GRCm39) |
missense |
probably benign |
|
R5641:Sbf2
|
UTSW |
7 |
110,038,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R5915:Sbf2
|
UTSW |
7 |
109,977,303 (GRCm39) |
nonsense |
probably null |
|
R5948:Sbf2
|
UTSW |
7 |
110,088,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Sbf2
|
UTSW |
7 |
109,977,193 (GRCm39) |
missense |
probably benign |
0.00 |
R6052:Sbf2
|
UTSW |
7 |
110,040,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R6142:Sbf2
|
UTSW |
7 |
109,948,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6327:Sbf2
|
UTSW |
7 |
110,040,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R6356:Sbf2
|
UTSW |
7 |
109,971,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Sbf2
|
UTSW |
7 |
110,062,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R6587:Sbf2
|
UTSW |
7 |
110,040,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6696:Sbf2
|
UTSW |
7 |
110,159,505 (GRCm39) |
missense |
probably benign |
0.04 |
R6986:Sbf2
|
UTSW |
7 |
109,929,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R7147:Sbf2
|
UTSW |
7 |
110,046,268 (GRCm39) |
missense |
probably benign |
0.01 |
R7358:Sbf2
|
UTSW |
7 |
109,998,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7414:Sbf2
|
UTSW |
7 |
109,913,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7418:Sbf2
|
UTSW |
7 |
109,965,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Sbf2
|
UTSW |
7 |
110,038,055 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7425:Sbf2
|
UTSW |
7 |
109,974,984 (GRCm39) |
nonsense |
probably null |
|
R7431:Sbf2
|
UTSW |
7 |
109,950,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7497:Sbf2
|
UTSW |
7 |
110,213,923 (GRCm39) |
nonsense |
probably null |
|
R7556:Sbf2
|
UTSW |
7 |
109,913,260 (GRCm39) |
missense |
probably benign |
0.20 |
R7604:Sbf2
|
UTSW |
7 |
109,977,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7707:Sbf2
|
UTSW |
7 |
109,929,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7746:Sbf2
|
UTSW |
7 |
110,040,633 (GRCm39) |
missense |
probably benign |
0.01 |
R7812:Sbf2
|
UTSW |
7 |
110,049,170 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7849:Sbf2
|
UTSW |
7 |
109,971,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Sbf2
|
UTSW |
7 |
109,934,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R8048:Sbf2
|
UTSW |
7 |
109,914,289 (GRCm39) |
missense |
probably benign |
0.21 |
R8305:Sbf2
|
UTSW |
7 |
109,970,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8337:Sbf2
|
UTSW |
7 |
110,040,669 (GRCm39) |
missense |
probably benign |
|
R8773:Sbf2
|
UTSW |
7 |
109,948,202 (GRCm39) |
missense |
probably benign |
|
R8786:Sbf2
|
UTSW |
7 |
110,063,793 (GRCm39) |
critical splice donor site |
probably null |
|
R8876:Sbf2
|
UTSW |
7 |
110,049,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R8932:Sbf2
|
UTSW |
7 |
110,040,155 (GRCm39) |
critical splice donor site |
probably null |
|
R8954:Sbf2
|
UTSW |
7 |
110,038,118 (GRCm39) |
nonsense |
probably null |
|
R8991:Sbf2
|
UTSW |
7 |
109,911,896 (GRCm39) |
missense |
probably benign |
0.20 |
R9119:Sbf2
|
UTSW |
7 |
109,911,292 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9310:Sbf2
|
UTSW |
7 |
109,914,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9344:Sbf2
|
UTSW |
7 |
109,940,535 (GRCm39) |
missense |
probably benign |
0.10 |
R9346:Sbf2
|
UTSW |
7 |
109,919,946 (GRCm39) |
missense |
probably benign |
0.05 |
R9404:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9406:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9408:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9472:Sbf2
|
UTSW |
7 |
109,970,798 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9554:Sbf2
|
UTSW |
7 |
110,040,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9624:Sbf2
|
UTSW |
7 |
109,963,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9653:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9709:Sbf2
|
UTSW |
7 |
110,027,514 (GRCm39) |
missense |
probably damaging |
0.99 |
RF005:Sbf2
|
UTSW |
7 |
109,916,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCCTATGACTGAGCTGTGG -3'
(R):5'- CCATCCTGAAGCAGCTAGTC -3'
Sequencing Primer
(F):5'- TGTGGCAGCAGGTATCCAG -3'
(R):5'- GCAGCTAGTCAGAATATTTGCCCG -3'
|
Posted On |
2021-04-30 |