Incidental Mutation 'R0464:Sbf2'
ID |
71426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
038664-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R0464 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 110063783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033058
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371
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: ENSMUST00000164759
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371
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 |
noncoding transcript
Transcript: ENSMUST00000165449
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166020
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166885
|
SMART Domains |
Protein: ENSMUSP00000130476 Gene: ENSMUSG00000038371
Domain | Start | End | E-Value | Type |
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167880
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171218
|
SMART Domains |
Protein: ENSMUSP00000129805 Gene: ENSMUSG00000038371
Domain | Start | End | E-Value | Type |
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
DENN
|
116 |
298 |
5.68e-75 |
SMART |
dDENN
|
351 |
407 |
1.5e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171378
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (80/80) |
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 |
Ada |
G |
T |
2: 163,574,884 (GRCm39) |
Y84* |
probably null |
Het |
Adar |
T |
A |
3: 89,642,889 (GRCm39) |
C257S |
possibly damaging |
Het |
Adgrd1 |
G |
T |
5: 129,239,714 (GRCm39) |
C507F |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,622 (GRCm39) |
Y299H |
probably benign |
Het |
Bok |
G |
T |
1: 93,621,935 (GRCm39) |
R77L |
probably damaging |
Het |
Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
Ceacam1 |
A |
G |
7: 25,171,442 (GRCm39) |
S341P |
possibly damaging |
Het |
Cfhr3 |
A |
T |
1: 139,521,683 (GRCm39) |
|
noncoding transcript |
Het |
Ckap5 |
A |
G |
2: 91,409,858 (GRCm39) |
I947V |
probably benign |
Het |
Clec2i |
T |
C |
6: 128,872,386 (GRCm39) |
Y173H |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,408,690 (GRCm39) |
D977G |
possibly damaging |
Het |
Cyp2f2 |
C |
A |
7: 26,831,962 (GRCm39) |
Q406K |
probably benign |
Het |
Ddx28 |
A |
G |
8: 106,736,685 (GRCm39) |
S458P |
probably damaging |
Het |
Dppa3 |
T |
A |
6: 122,605,492 (GRCm39) |
|
probably null |
Het |
Dusp10 |
C |
A |
1: 183,801,273 (GRCm39) |
L347I |
probably benign |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
Fbxl15 |
A |
T |
19: 46,316,951 (GRCm39) |
E13D |
probably benign |
Het |
Fhit |
T |
A |
14: 10,991,567 (GRCm38) |
|
probably benign |
Het |
Fras1 |
G |
T |
5: 96,784,662 (GRCm39) |
V882F |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gabbr1 |
C |
T |
17: 37,361,726 (GRCm39) |
|
probably benign |
Het |
Ganc |
T |
A |
2: 120,267,175 (GRCm39) |
V497D |
probably benign |
Het |
Glt8d2 |
T |
G |
10: 82,490,564 (GRCm39) |
H242P |
possibly damaging |
Het |
Gna15 |
T |
C |
10: 81,348,338 (GRCm39) |
Y131C |
probably benign |
Het |
Gpatch8 |
T |
C |
11: 102,371,712 (GRCm39) |
K609E |
unknown |
Het |
Gprc5a |
A |
T |
6: 135,056,413 (GRCm39) |
K287* |
probably null |
Het |
Iqub |
T |
A |
6: 24,479,262 (GRCm39) |
K427* |
probably null |
Het |
Itpr2 |
C |
G |
6: 146,277,387 (GRCm39) |
D666H |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,234,269 (GRCm39) |
I15M |
possibly damaging |
Het |
Kcnn2 |
A |
G |
18: 45,693,426 (GRCm39) |
E334G |
probably damaging |
Het |
Lypd6 |
T |
A |
2: 50,080,690 (GRCm39) |
I126N |
probably damaging |
Het |
Ms4a20 |
A |
G |
19: 11,089,801 (GRCm39) |
L28P |
probably damaging |
Het |
Mtus1 |
T |
C |
8: 41,455,511 (GRCm39) |
D56G |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,498,571 (GRCm39) |
D889G |
probably damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Nab1 |
T |
C |
1: 52,529,174 (GRCm39) |
D241G |
possibly damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ncbp3 |
C |
T |
11: 72,960,647 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
A |
8: 61,525,307 (GRCm39) |
|
probably benign |
Het |
Nf1 |
T |
C |
11: 79,447,615 (GRCm39) |
V2452A |
probably benign |
Het |
Nlrp1b |
A |
C |
11: 71,109,070 (GRCm39) |
S144A |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,640,597 (GRCm39) |
|
probably null |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Paox |
T |
A |
7: 139,709,195 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,462,676 (GRCm39) |
|
probably null |
Het |
Pde8b |
G |
A |
13: 95,241,206 (GRCm39) |
T202M |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,019,814 (GRCm39) |
V905D |
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,926,796 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
C |
1: 131,139,998 (GRCm39) |
N87S |
probably benign |
Het |
Rbl1 |
C |
A |
2: 156,989,465 (GRCm39) |
K1051N |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,525,486 (GRCm39) |
V892A |
probably damaging |
Het |
Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
T |
A |
13: 47,396,363 (GRCm39) |
Y233* |
probably null |
Het |
Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
Sgo2a |
A |
T |
1: 58,039,253 (GRCm39) |
K85N |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,921,279 (GRCm39) |
C631S |
probably damaging |
Het |
Simc1 |
C |
T |
13: 54,684,913 (GRCm39) |
R50* |
probably null |
Het |
Skint5 |
T |
A |
4: 113,392,928 (GRCm39) |
M1235L |
unknown |
Het |
Slc22a19 |
A |
T |
19: 7,660,278 (GRCm39) |
N377K |
probably benign |
Het |
Spata31d1a |
A |
G |
13: 59,849,573 (GRCm39) |
F852L |
possibly damaging |
Het |
Spata31e3 |
A |
G |
13: 50,402,311 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
G |
A |
17: 86,427,430 (GRCm39) |
S401F |
probably damaging |
Het |
Stk36 |
C |
A |
1: 74,650,331 (GRCm39) |
Q288K |
probably damaging |
Het |
Styx |
T |
C |
14: 45,609,908 (GRCm39) |
S191P |
probably benign |
Het |
Supt6 |
T |
A |
11: 78,107,164 (GRCm39) |
N1214I |
probably benign |
Het |
Tcim |
T |
A |
8: 24,928,644 (GRCm39) |
D90V |
probably damaging |
Het |
Tdpoz1 |
T |
A |
3: 93,578,782 (GRCm39) |
M1L |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,085,141 (GRCm39) |
T881S |
probably benign |
Het |
Tlr5 |
C |
T |
1: 182,801,275 (GRCm39) |
A193V |
probably benign |
Het |
Tmem117 |
T |
A |
15: 94,612,800 (GRCm39) |
F112Y |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,651,375 (GRCm39) |
R1633W |
probably damaging |
Het |
Trh |
T |
C |
6: 92,220,649 (GRCm39) |
|
probably null |
Het |
Triobp |
A |
G |
15: 78,851,186 (GRCm39) |
R447G |
possibly damaging |
Het |
Trip6 |
A |
G |
5: 137,311,943 (GRCm39) |
F46S |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,081,872 (GRCm39) |
|
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,255 (GRCm39) |
I156F |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,123,427 (GRCm39) |
|
probably benign |
Het |
Wdr35 |
G |
T |
12: 9,077,472 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
C |
T |
4: 19,638,763 (GRCm39) |
|
probably benign |
Het |
Zfp652 |
T |
C |
11: 95,654,475 (GRCm39) |
C293R |
probably 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 |
|
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 |
|
R8812:Sbf2
|
UTSW |
7 |
109,929,069 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGCTTTCATCCAACACAAATCTGCTTTT -3'
(R):5'- AACACTCAAAGTTGGTGTTCATACCTGT -3'
Sequencing Primer
(F):5'- CAACACAAATCTGCTTTTTCATGTC -3'
(R):5'- GCTTTGAAAACACATGAAACAAATAC -3'
|
Posted On |
2013-09-30 |