Incidental Mutation 'R1601:Sbf2'
ID |
176150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
039638-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R1601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 109939283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000166020]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably null
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 null
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: ENSMUST00000164525
|
SMART Domains |
Protein: ENSMUSP00000128340 Gene: ENSMUSG00000038371
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
Pfam:Myotub-related
|
28 |
217 |
1.5e-21 |
PFAM |
|
Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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: ENSMUST00000165992
|
Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000169740
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
Adgra2 |
T |
C |
8: 27,600,046 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
T |
C |
4: 129,886,630 (GRCm39) |
S257P |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,748,353 (GRCm39) |
K518E |
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,514,683 (GRCm39) |
Y64* |
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,832,638 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
T |
A |
1: 179,892,566 (GRCm39) |
Y243* |
probably null |
Het |
Cdk14 |
C |
T |
5: 5,185,378 (GRCm39) |
V176M |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,175,551 (GRCm39) |
E54G |
probably damaging |
Het |
Crx |
T |
C |
7: 15,601,736 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,611 (GRCm39) |
F511L |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,457,380 (GRCm39) |
M810V |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,527,519 (GRCm39) |
T1077A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,418,303 (GRCm39) |
D2011N |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,158 (GRCm39) |
H241L |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,774,756 (GRCm39) |
K740* |
probably null |
Het |
Enah |
A |
T |
1: 181,747,185 (GRCm39) |
L523* |
probably null |
Het |
Fabp3 |
T |
C |
4: 130,202,641 (GRCm39) |
L24P |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,836 (GRCm39) |
S2626P |
probably benign |
Het |
Fbxo4 |
A |
G |
15: 3,998,447 (GRCm39) |
M337T |
possibly damaging |
Het |
Gas6 |
G |
T |
8: 13,515,786 (GRCm39) |
T662N |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Hrh4 |
G |
A |
18: 13,148,955 (GRCm39) |
V106I |
possibly damaging |
Het |
Ido2 |
G |
T |
8: 25,066,205 (GRCm39) |
H20Q |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,560,974 (GRCm39) |
R613L |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,452 (GRCm39) |
S836P |
probably benign |
Het |
Kcng3 |
A |
T |
17: 83,895,768 (GRCm39) |
C233S |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,941,784 (GRCm39) |
Q625R |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,055,087 (GRCm39) |
S553G |
probably benign |
Het |
Krt82 |
A |
T |
15: 101,453,588 (GRCm39) |
I266N |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,839,538 (GRCm39) |
L736Q |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,970,329 (GRCm39) |
C138R |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,845,982 (GRCm39) |
C397R |
possibly damaging |
Het |
Me1 |
A |
C |
9: 86,560,065 (GRCm39) |
Y52D |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,575,875 (GRCm39) |
|
probably benign |
Het |
Myo18b |
G |
T |
5: 113,019,364 (GRCm39) |
Q638K |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,162,735 (GRCm39) |
L170P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,177,264 (GRCm39) |
L1359* |
probably null |
Het |
Nomo1 |
C |
A |
7: 45,696,379 (GRCm39) |
S299Y |
probably damaging |
Het |
Onecut1 |
A |
T |
9: 74,769,973 (GRCm39) |
H132L |
probably benign |
Het |
Or2b2 |
C |
A |
13: 21,887,396 (GRCm39) |
T75K |
probably damaging |
Het |
Or2w3 |
A |
T |
11: 58,556,903 (GRCm39) |
R173W |
probably damaging |
Het |
Or4e2 |
A |
C |
14: 52,687,899 (GRCm39) |
T10P |
probably benign |
Het |
Or7a41 |
A |
T |
10: 78,871,338 (GRCm39) |
Y236F |
possibly damaging |
Het |
Paqr3 |
A |
G |
5: 97,259,248 (GRCm39) |
Y19H |
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,884,926 (GRCm39) |
H140R |
possibly damaging |
Het |
Prox1 |
T |
C |
1: 189,893,203 (GRCm39) |
D414G |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,555,637 (GRCm39) |
E774A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,844,944 (GRCm39) |
D412V |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,448,396 (GRCm39) |
T259M |
probably benign |
Het |
Sbno2 |
C |
T |
10: 79,896,326 (GRCm39) |
R898H |
probably damaging |
Het |
Smox |
C |
A |
2: 131,362,094 (GRCm39) |
T172N |
probably damaging |
Het |
Taf7l2 |
T |
C |
10: 115,949,521 (GRCm39) |
S2G |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 111,989,687 (GRCm39) |
R341* |
probably null |
Het |
Thrap3 |
C |
G |
4: 126,073,894 (GRCm39) |
G284A |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,238 (GRCm39) |
V271A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,202,545 (GRCm39) |
T1637A |
probably damaging |
Het |
Tspan5 |
T |
A |
3: 138,602,596 (GRCm39) |
I166N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,642,582 (GRCm39) |
V1398A |
probably benign |
Het |
Xbp1 |
C |
T |
11: 5,471,975 (GRCm39) |
R34W |
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 |
|
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 |
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'- GGATTCATAAGCTGCCTTTGGCTTTTC -3'
(R):5'- TGCAGCACACACTCTGCTTGTC -3'
Sequencing Primer
(F):5'- TTCTAAGCGAGAGAAAAAGCTTACC -3'
(R):5'- ACACACTCTGCTTGTCTCTCAG -3'
|
Posted On |
2014-04-24 |