Incidental Mutation 'R7414:Sbf2'
| ID |
575304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
045494-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R7414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109913271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1668
(E1668K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: E1668K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: E1668K
| 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: E1643K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: E1643K
| 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: E1622K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: E1622K
| 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 |
|
| Meta Mutation Damage Score |
0.1622 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (98/101) |
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,779 (GRCm39) |
T90M |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,896,387 (GRCm39) |
S540T |
probably benign |
Het |
| Adcy4 |
G |
A |
14: 56,019,090 (GRCm39) |
L156F |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,510,256 (GRCm39) |
L95M |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,611,670 (GRCm39) |
T567A |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,485,741 (GRCm39) |
I1378V |
possibly damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,706,539 (GRCm39) |
H639L |
probably damaging |
Het |
| Arfrp1 |
C |
T |
2: 181,001,307 (GRCm39) |
R189Q |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,459,193 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Bap1 |
G |
C |
14: 30,975,572 (GRCm39) |
G139R |
probably benign |
Het |
| Bms1 |
C |
T |
6: 118,360,706 (GRCm39) |
R1254Q |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,235 (GRCm39) |
V94A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,821,998 (GRCm39) |
F209L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,302,596 (GRCm39) |
T144A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,410,611 (GRCm39) |
T87A |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,055,479 (GRCm39) |
I1706L |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,832,344 (GRCm39) |
V981L |
probably benign |
Het |
| Cxcr6 |
G |
A |
9: 123,639,287 (GRCm39) |
W103* |
probably null |
Het |
| Dld |
A |
T |
12: 31,385,525 (GRCm39) |
F272Y |
probably damaging |
Het |
| Dmrt2 |
T |
A |
19: 25,650,950 (GRCm39) |
D45E |
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,433,502 (GRCm39) |
L8* |
probably null |
Het |
| Epg5 |
G |
T |
18: 78,026,747 (GRCm39) |
R1246L |
possibly damaging |
Het |
| Ets1 |
T |
A |
9: 32,664,153 (GRCm39) |
C350* |
probably null |
Het |
| Fam135b |
C |
T |
15: 71,350,105 (GRCm39) |
R345Q |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,229,122 (GRCm39) |
R696H |
probably damaging |
Het |
| Gbf1 |
C |
A |
19: 46,271,797 (GRCm39) |
Y159* |
probably null |
Het |
| Gcsam |
T |
C |
16: 45,437,301 (GRCm39) |
|
probably null |
Het |
| Gmpr2 |
G |
T |
14: 55,910,259 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
C |
A |
17: 36,498,275 (GRCm39) |
V257L |
not run |
Het |
| Hadha |
A |
G |
5: 30,331,610 (GRCm39) |
F449L |
possibly damaging |
Het |
| Haus3 |
T |
A |
5: 34,323,477 (GRCm39) |
I378L |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,706,392 (GRCm39) |
H272L |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,889 (GRCm39) |
V747A |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,370 (GRCm39) |
V81M |
possibly damaging |
Het |
| Insyn2a |
G |
T |
7: 134,519,738 (GRCm39) |
A264D |
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,840,673 (GRCm39) |
C345* |
probably null |
Het |
| Ipmk |
T |
A |
10: 71,217,124 (GRCm39) |
F223I |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,274,706 (GRCm39) |
N825K |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,475,072 (GRCm39) |
K344E |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,836,649 (GRCm39) |
T530I |
|
Het |
| Kmt2d |
C |
T |
15: 98,737,737 (GRCm39) |
V5120M |
unknown |
Het |
| Krt6b |
T |
G |
15: 101,587,449 (GRCm39) |
D215A |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,581,335 (GRCm39) |
K124R |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,240 (GRCm39) |
V67D |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrrc32 |
A |
T |
7: 98,149,201 (GRCm39) |
Q660H |
probably benign |
Het |
| Lurap1l |
T |
A |
4: 80,871,991 (GRCm39) |
H161Q |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,189 (GRCm39) |
I245T |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,069,022 (GRCm39) |
*1119K |
probably null |
Het |
| Mertk |
C |
A |
2: 128,571,313 (GRCm39) |
A89E |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 121,011,074 (GRCm39) |
Y375N |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,374,309 (GRCm39) |
D121E |
|
Het |
| N4bp2l1 |
T |
A |
5: 150,499,758 (GRCm39) |
N116I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,756 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,289,977 (GRCm39) |
D178E |
probably benign |
Het |
| Nt5c2 |
C |
A |
19: 46,878,328 (GRCm39) |
G444C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,349 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,762 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,764 (GRCm39) |
F64L |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,460,359 (GRCm39) |
S220A |
possibly damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,247 (GRCm39) |
S138P |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,866,267 (GRCm39) |
N979K |
|
Het |
| Prkcb |
A |
T |
7: 122,167,450 (GRCm39) |
T387S |
possibly damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,821,135 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
T |
G |
2: 26,313,643 (GRCm39) |
T455P |
|
Het |
| Sec24b |
C |
A |
3: 129,803,514 (GRCm39) |
V412F |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,145 (GRCm39) |
N220S |
probably benign |
Het |
| Sgip1 |
C |
T |
4: 102,824,821 (GRCm39) |
Q581* |
probably null |
Het |
| Shf |
A |
T |
2: 122,190,063 (GRCm39) |
I175N |
possibly damaging |
Het |
| Slc16a10 |
G |
A |
10: 40,017,992 (GRCm39) |
T14M |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,254 (GRCm39) |
M258K |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,618 (GRCm39) |
Y308* |
probably null |
Het |
| Slfnl1 |
T |
C |
4: 120,392,451 (GRCm39) |
Y249H |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,782,074 (GRCm39) |
Y29C |
probably damaging |
Het |
| Snai1 |
C |
A |
2: 167,380,588 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,518,289 (GRCm39) |
Y368C |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,365,334 (GRCm39) |
V126M |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,715 (GRCm39) |
Y87F |
probably damaging |
Het |
| Tarm1 |
C |
A |
7: 3,545,318 (GRCm39) |
M177I |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,819,786 (GRCm39) |
F485L |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,556,717 (GRCm39) |
I435F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,128 (GRCm39) |
V15A |
probably benign |
Het |
| Tll2 |
T |
C |
19: 41,092,268 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,612,776 (GRCm39) |
D104G |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,555 (GRCm39) |
L887P |
probably damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,168,642 (GRCm39) |
V132D |
probably damaging |
Het |
| Tomt |
T |
A |
7: 101,549,715 (GRCm39) |
D191V |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,160,459 (GRCm39) |
M373V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,568,493 (GRCm39) |
P27467S |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,573,130 (GRCm39) |
V25921G |
probably damaging |
Het |
| Ubxn2a |
A |
C |
12: 4,941,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Uchl5 |
A |
T |
1: 143,682,433 (GRCm39) |
K319N |
unknown |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,693 (GRCm39) |
D222G |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,446 (GRCm39) |
I10V |
unknown |
Het |
| Vps13b |
T |
C |
15: 35,910,973 (GRCm39) |
I3579T |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,295 (GRCm39) |
H443Q |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,250,407 (GRCm39) |
M2T |
unknown |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,359 (GRCm39) |
T160A |
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 |
|
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'- CAAGCATGGCTAGGTTGTGG -3'
(R):5'- TCTAAGAGTGAAGGTGTTTGAGAC -3'
Sequencing Primer
(F):5'- GGCTGTAGGCTGCATCTGAC -3'
(R):5'- ATCTGGGCCTGCAACAA -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation