Incidental Mutation 'R0505:Sbf2'
ID |
47474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
038700-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R0505 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109998550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 628
(Y628N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: Y628N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371 AA Change: Y628N
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 damaging
Transcript: ENSMUST00000164759
AA Change: Y628N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371 AA Change: Y628N
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 damaging
Transcript: ENSMUST00000166020
AA Change: Y582N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371 AA Change: Y582N
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: ENSMUST00000171378
|
Meta Mutation Damage Score |
0.2821 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
98% (119/121) |
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: 117 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,241,058 (GRCm39) |
Y974H |
probably benign |
Het |
Abca2 |
G |
T |
2: 25,324,906 (GRCm39) |
G300V |
probably benign |
Het |
Abi1 |
A |
G |
2: 22,852,516 (GRCm39) |
|
probably benign |
Het |
Actr10 |
T |
A |
12: 71,006,738 (GRCm39) |
Y332N |
probably damaging |
Het |
Adam25 |
G |
T |
8: 41,208,261 (GRCm39) |
C509F |
probably damaging |
Het |
Adck1 |
A |
T |
12: 88,338,461 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,166,676 (GRCm39) |
|
probably null |
Het |
Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
Akr1c21 |
A |
G |
13: 4,626,306 (GRCm39) |
Y110C |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,019,566 (GRCm39) |
I463V |
probably null |
Het |
Atp6v1e2 |
C |
T |
17: 87,252,006 (GRCm39) |
V131M |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,505,688 (GRCm39) |
|
probably null |
Het |
Bltp3b |
T |
C |
10: 89,627,305 (GRCm39) |
S145P |
probably damaging |
Het |
C7 |
A |
T |
15: 5,023,624 (GRCm39) |
|
probably benign |
Het |
Cdc27 |
T |
C |
11: 104,419,114 (GRCm39) |
T273A |
probably benign |
Het |
Cdo1 |
T |
A |
18: 46,848,678 (GRCm39) |
I187F |
probably benign |
Het |
Cep104 |
A |
T |
4: 154,080,761 (GRCm39) |
T742S |
probably benign |
Het |
Ckm |
A |
T |
7: 19,153,377 (GRCm39) |
K223* |
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,895,259 (GRCm39) |
P586L |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,042,758 (GRCm39) |
R2325Q |
probably damaging |
Het |
Dcpp1 |
A |
T |
17: 24,101,568 (GRCm39) |
I106L |
possibly damaging |
Het |
Diaph3 |
A |
C |
14: 87,328,400 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,070,245 (GRCm39) |
V1520A |
probably damaging |
Het |
Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,609,185 (GRCm39) |
K199* |
probably null |
Het |
Eeig2 |
T |
C |
3: 108,887,520 (GRCm39) |
E248G |
probably benign |
Het |
Efcab11 |
T |
A |
12: 99,685,294 (GRCm39) |
Q160L |
probably benign |
Het |
Eif2ak4 |
T |
A |
2: 118,261,517 (GRCm39) |
S686T |
probably benign |
Het |
Epha6 |
C |
T |
16: 60,026,095 (GRCm39) |
S449N |
possibly damaging |
Het |
Ercc4 |
T |
C |
16: 12,944,331 (GRCm39) |
V329A |
probably benign |
Het |
Faf1 |
T |
C |
4: 109,697,600 (GRCm39) |
F309L |
possibly damaging |
Het |
G6pd2 |
C |
A |
5: 61,966,910 (GRCm39) |
D228E |
probably benign |
Het |
Ggt1 |
T |
G |
10: 75,421,791 (GRCm39) |
V546G |
probably damaging |
Het |
Gpatch4 |
G |
T |
3: 87,958,524 (GRCm39) |
V3F |
probably damaging |
Het |
Gprin3 |
A |
G |
6: 59,330,372 (GRCm39) |
L645P |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,449,270 (GRCm39) |
Y342C |
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,907,849 (GRCm39) |
I16T |
possibly damaging |
Het |
Inca1 |
T |
C |
11: 70,581,025 (GRCm39) |
Y61C |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,180,145 (GRCm39) |
W860R |
possibly damaging |
Het |
Kcnj9 |
C |
T |
1: 172,150,591 (GRCm39) |
A341T |
probably benign |
Het |
Kdm5b |
T |
C |
1: 134,530,309 (GRCm39) |
V440A |
probably damaging |
Het |
L3mbtl1 |
C |
T |
2: 162,789,255 (GRCm39) |
|
probably benign |
Het |
Lin54 |
G |
A |
5: 100,600,152 (GRCm39) |
T307I |
probably damaging |
Het |
Lrrc18 |
C |
A |
14: 32,731,096 (GRCm39) |
Q212K |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,393,851 (GRCm39) |
S525P |
probably benign |
Het |
Lrrc71 |
T |
A |
3: 87,653,006 (GRCm39) |
S137C |
probably damaging |
Het |
Lrrk1 |
A |
T |
7: 65,940,656 (GRCm39) |
|
probably null |
Het |
Man2b2 |
G |
A |
5: 36,973,542 (GRCm39) |
S58L |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,276,888 (GRCm39) |
H539L |
probably benign |
Het |
Med1 |
G |
A |
11: 98,047,730 (GRCm39) |
P1022L |
probably damaging |
Het |
Meis1 |
T |
A |
11: 18,961,360 (GRCm39) |
H171L |
probably damaging |
Het |
Mier1 |
T |
A |
4: 103,012,820 (GRCm39) |
|
probably benign |
Het |
Mmp13 |
A |
T |
9: 7,272,929 (GRCm39) |
R96S |
probably damaging |
Het |
Mms19 |
G |
A |
19: 41,942,173 (GRCm39) |
T38I |
probably damaging |
Het |
Mrc1 |
G |
A |
2: 14,314,843 (GRCm39) |
C976Y |
probably damaging |
Het |
Mrtfb |
C |
T |
16: 13,230,390 (GRCm39) |
T1025I |
possibly damaging |
Het |
Naalad2 |
A |
G |
9: 18,297,191 (GRCm39) |
Y32H |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,183,085 (GRCm39) |
|
probably benign |
Het |
Nefm |
C |
T |
14: 68,361,608 (GRCm39) |
D219N |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,454 (GRCm39) |
D679E |
probably damaging |
Het |
Ogdh |
T |
A |
11: 6,289,936 (GRCm39) |
|
probably benign |
Het |
Olfm3 |
T |
A |
3: 114,916,330 (GRCm39) |
S421T |
possibly damaging |
Het |
Opn5 |
T |
G |
17: 42,903,844 (GRCm39) |
T164P |
possibly damaging |
Het |
Or4k37 |
A |
T |
2: 111,159,673 (GRCm39) |
N303I |
probably benign |
Het |
Or51a25 |
T |
A |
7: 102,373,236 (GRCm39) |
I154F |
probably damaging |
Het |
Or52a24 |
T |
C |
7: 103,381,583 (GRCm39) |
V150A |
probably benign |
Het |
Or5ak20 |
A |
G |
2: 85,184,093 (GRCm39) |
M59T |
possibly damaging |
Het |
Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
Pde7b |
C |
T |
10: 20,314,492 (GRCm39) |
V166M |
probably damaging |
Het |
Peds1 |
A |
T |
2: 167,486,907 (GRCm39) |
|
probably benign |
Het |
Pik3ap1 |
T |
C |
19: 41,313,003 (GRCm39) |
N370S |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,452,814 (GRCm39) |
D3913V |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,174,971 (GRCm39) |
I90V |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,326,656 (GRCm39) |
T197A |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,179,054 (GRCm39) |
M987K |
probably benign |
Het |
Pmch |
A |
G |
10: 87,927,221 (GRCm39) |
N75D |
probably benign |
Het |
Prom2 |
T |
A |
2: 127,374,787 (GRCm39) |
Q583L |
possibly damaging |
Het |
Pyroxd1 |
T |
A |
6: 142,299,288 (GRCm39) |
M148K |
possibly damaging |
Het |
R3hdm2 |
C |
T |
10: 127,293,569 (GRCm39) |
L158F |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,516,789 (GRCm39) |
T349S |
probably benign |
Het |
Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,000,749 (GRCm39) |
P1401Q |
probably damaging |
Het |
Robo3 |
G |
A |
9: 37,328,055 (GRCm39) |
|
probably benign |
Het |
Rpn1 |
T |
A |
6: 88,067,224 (GRCm39) |
S195T |
probably benign |
Het |
Rslcan18 |
C |
A |
13: 67,250,183 (GRCm39) |
K17N |
probably benign |
Het |
Rsph3b |
A |
T |
17: 7,209,126 (GRCm39) |
I48N |
probably damaging |
Het |
Sis |
T |
C |
3: 72,867,629 (GRCm39) |
T139A |
probably benign |
Het |
Slc22a14 |
A |
G |
9: 119,001,100 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Smarcb1 |
T |
C |
10: 75,732,900 (GRCm39) |
T372A |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,855,531 (GRCm39) |
H328L |
probably damaging |
Het |
Sun5 |
T |
A |
2: 153,712,872 (GRCm39) |
D16V |
probably damaging |
Het |
Syde2 |
G |
A |
3: 145,720,135 (GRCm39) |
E1053K |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,146,238 (GRCm39) |
S6419P |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,794,195 (GRCm39) |
|
probably benign |
Het |
Timm44 |
C |
A |
8: 4,310,532 (GRCm39) |
E407* |
probably null |
Het |
Tnpo2 |
A |
G |
8: 85,773,991 (GRCm39) |
T342A |
probably benign |
Het |
Trio |
A |
G |
15: 27,767,993 (GRCm39) |
C1964R |
probably benign |
Het |
Trip11 |
A |
C |
12: 101,851,931 (GRCm39) |
L711R |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,100,450 (GRCm39) |
H101Q |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,851,266 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,680,335 (GRCm39) |
|
probably benign |
Het |
Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
Unc5a |
T |
A |
13: 55,152,767 (GRCm39) |
S838T |
probably damaging |
Het |
Uxs1 |
T |
C |
1: 43,804,046 (GRCm39) |
|
probably null |
Het |
Vmn2r108 |
A |
T |
17: 20,683,096 (GRCm39) |
C703S |
possibly damaging |
Het |
Zc3hav1 |
C |
T |
6: 38,309,599 (GRCm39) |
G408R |
probably damaging |
Het |
Zfp1004 |
T |
A |
2: 150,035,000 (GRCm39) |
C471* |
probably null |
Het |
Zfp609 |
G |
A |
9: 65,610,744 (GRCm39) |
L740F |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,292 (GRCm39) |
E341G |
probably damaging |
Het |
Zfp707 |
A |
T |
15: 75,847,105 (GRCm39) |
H312L |
probably damaging |
Het |
Zfp773 |
T |
C |
7: 7,136,023 (GRCm39) |
D191G |
probably benign |
Het |
Zgrf1 |
C |
A |
3: 127,366,887 (GRCm39) |
D755E |
probably benign |
Het |
Zscan5b |
T |
A |
7: 6,242,074 (GRCm39) |
I431N |
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 |
|
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'- TGGGCTTTCTGTACCAGGGTGAAC -3'
(R):5'- GTAAAGCGTAACAGTCCCGACCTC -3'
Sequencing Primer
(F):5'- TCTGGACCAGAGTTTCAAGC -3'
(R):5'- CTCCCCAGGGCGTTTAC -3'
|
Posted On |
2013-06-12 |