Incidental Mutation 'R2109:Sbf2'
| ID |
232371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
040113-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R2109 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110060419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 182
(Q182K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: Q182K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: Q182K
| 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: Q182K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: Q182K
| 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 |
possibly damaging
Transcript: ENSMUST00000166020
AA Change: Q136K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: Q136K
| 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 |
unknown
Transcript: ENSMUST00000166885
AA Change: Q36K
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: Q36K
| 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 damaging
Transcript: ENSMUST00000171218
AA Change: Q182K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: Q182K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
G |
T |
7: 43,900,435 (GRCm39) |
R113S |
probably benign |
Het |
| Ackr2 |
A |
T |
9: 121,738,026 (GRCm39) |
I134F |
probably damaging |
Het |
| Actr3b |
T |
A |
5: 26,036,709 (GRCm39) |
I174N |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,094,847 (GRCm39) |
S2214T |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,890,768 (GRCm39) |
R986L |
possibly damaging |
Het |
| Brap |
G |
T |
5: 121,801,422 (GRCm39) |
S59I |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,598,578 (GRCm39) |
H65Y |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,612,004 (GRCm39) |
T121A |
probably damaging |
Het |
| Capn1 |
T |
A |
19: 6,064,388 (GRCm39) |
Y37F |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,869,650 (GRCm39) |
K726E |
probably damaging |
Het |
| Cd300lb |
G |
A |
11: 114,816,865 (GRCm39) |
S195F |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,264 (GRCm39) |
K307E |
probably damaging |
Het |
| Chodl |
A |
C |
16: 78,738,251 (GRCm39) |
N73T |
possibly damaging |
Het |
| Cimip2c |
G |
A |
5: 30,637,851 (GRCm39) |
G66E |
probably damaging |
Het |
| Crnn |
A |
T |
3: 93,055,747 (GRCm39) |
M178L |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,110 (GRCm39) |
D221G |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,406,498 (GRCm39) |
I303N |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,097 (GRCm39) |
V2338A |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,928,411 (GRCm39) |
P2086Q |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,725,346 (GRCm39) |
I486V |
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,524,855 (GRCm39) |
S265P |
probably damaging |
Het |
| Eif1b |
A |
G |
9: 120,323,296 (GRCm39) |
D52G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,790,153 (GRCm39) |
T602S |
probably benign |
Het |
| Exoc3l2 |
A |
T |
7: 19,223,059 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
C |
A |
15: 76,421,173 (GRCm39) |
V297F |
probably damaging |
Het |
| Fgr |
T |
A |
4: 132,725,786 (GRCm39) |
N398K |
probably benign |
Het |
| G3bp1 |
A |
G |
11: 55,379,986 (GRCm39) |
R107G |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,155 (GRCm39) |
N186K |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,217,831 (GRCm39) |
L249* |
probably null |
Het |
| Hmgcs2 |
T |
A |
3: 98,204,337 (GRCm39) |
L246* |
probably null |
Het |
| Hsp90ab1 |
G |
T |
17: 45,880,254 (GRCm39) |
H96Q |
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,588,603 (GRCm39) |
V1078I |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,212,530 (GRCm39) |
D677G |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,887,405 (GRCm39) |
T3078I |
possibly damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,402 (GRCm39) |
F199S |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,592 (GRCm39) |
T1814I |
probably damaging |
Het |
| Msantd5l |
T |
A |
11: 51,145,264 (GRCm39) |
I108F |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,800,763 (GRCm39) |
F766I |
probably benign |
Het |
| Nbl1 |
T |
A |
4: 138,810,915 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
A |
19: 18,618,802 (GRCm39) |
L118Q |
probably damaging |
Het |
| Nopchap1 |
C |
T |
10: 83,201,656 (GRCm39) |
S143L |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,082 (GRCm39) |
L172H |
probably damaging |
Het |
| Or2y11 |
T |
G |
11: 49,443,260 (GRCm39) |
S229A |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 12,892,457 (GRCm39) |
Q332P |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,243,709 (GRCm39) |
F921L |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,069,054 (GRCm39) |
S1086G |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,369,942 (GRCm39) |
T18A |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,276 (GRCm39) |
S955T |
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,960,413 (GRCm39) |
I639N |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,505,254 (GRCm39) |
I852T |
probably benign |
Het |
| Prps1l1 |
A |
G |
12: 35,035,521 (GRCm39) |
K212R |
probably benign |
Het |
| Ptpn5 |
A |
G |
7: 46,735,807 (GRCm39) |
Y304H |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,973 (GRCm39) |
I281T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,099,880 (GRCm39) |
Y278* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,333,489 (GRCm39) |
Y2899* |
probably null |
Het |
| Rttn |
C |
T |
18: 89,004,197 (GRCm39) |
T397I |
possibly damaging |
Het |
| Sacs |
G |
T |
14: 61,410,902 (GRCm39) |
|
probably null |
Het |
| Sec14l5 |
C |
T |
16: 4,984,968 (GRCm39) |
R105* |
probably null |
Het |
| Sh2b1 |
A |
T |
7: 126,071,536 (GRCm39) |
D216E |
possibly damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,920,008 (GRCm39) |
N72S |
possibly damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,015,619 (GRCm39) |
I391F |
probably damaging |
Het |
| Slc36a2 |
G |
A |
11: 55,072,381 (GRCm39) |
A77V |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,474,987 (GRCm39) |
I888L |
probably benign |
Het |
| Smoc1 |
C |
T |
12: 81,197,450 (GRCm39) |
T194M |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,630 (GRCm39) |
G93R |
probably benign |
Het |
| Sox30 |
T |
G |
11: 45,882,595 (GRCm39) |
F542V |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,206,030 (GRCm39) |
V116A |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,063,966 (GRCm39) |
D330G |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,796,384 (GRCm39) |
S202A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,601,443 (GRCm39) |
T151I |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,527 (GRCm39) |
E361G |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,746,009 (GRCm39) |
D305E |
probably damaging |
Het |
| Tpp1 |
A |
G |
7: 105,399,177 (GRCm39) |
L133P |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,215,243 (GRCm39) |
M41K |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,549 (GRCm39) |
D9G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,804,598 (GRCm39) |
I225F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,457,298 (GRCm39) |
K313R |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,555,379 (GRCm39) |
V425A |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,971,445 (GRCm39) |
Y153* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,861,273 (GRCm39) |
S478G |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,707,969 (GRCm39) |
E77G |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,008,496 (GRCm39) |
M154T |
probably benign |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp763 |
G |
T |
17: 33,238,752 (GRCm39) |
A131E |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,711,651 (GRCm39) |
V32E |
probably null |
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 |
|
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'- TAAGTCCTTATGGAAGCTTGGTC -3'
(R):5'- GCTCCTATCTACTGAGGTTTCAAC -3'
Sequencing Primer
(F):5'- CCTTATGGAAGCTTGGTCTATTGTTC -3'
(R):5'- ACTGAGGTTTCAACTTCCATGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation