Incidental Mutation 'R1771:Sbf2'
ID |
196591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
039802-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R1771 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 110060353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 204
(Q204*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033058
AA Change: Q204*
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371 AA Change: Q204*
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: ENSMUST00000164759
AA Change: Q204*
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371 AA Change: Q204*
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 null
Transcript: ENSMUST00000166020
AA Change: Q158*
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371 AA Change: Q158*
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: ENSMUST00000166885
AA Change: Q58*
|
SMART Domains |
Protein: ENSMUSP00000130476 Gene: ENSMUSG00000038371 AA Change: Q58*
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 null
Transcript: ENSMUST00000171218
AA Change: Q204*
|
SMART Domains |
Protein: ENSMUSP00000129805 Gene: ENSMUSG00000038371 AA Change: Q204*
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: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,773,061 (GRCm39) |
S642P |
probably damaging |
Het |
Adam30 |
T |
C |
3: 98,068,835 (GRCm39) |
S95P |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,991,117 (GRCm39) |
V4134I |
probably benign |
Het |
Ankrd13a |
T |
C |
5: 114,941,649 (GRCm39) |
V512A |
probably benign |
Het |
Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,660,131 (GRCm39) |
V384L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,805,074 (GRCm39) |
W1014R |
probably damaging |
Het |
Cand1 |
A |
C |
10: 119,044,211 (GRCm39) |
N1054K |
probably benign |
Het |
Car15 |
A |
T |
16: 17,654,730 (GRCm39) |
V96E |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,905,972 (GRCm39) |
E101G |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,469 (GRCm39) |
T332S |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,787,171 (GRCm39) |
V500E |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
Dennd5a |
T |
C |
7: 109,517,893 (GRCm39) |
D581G |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,846,967 (GRCm39) |
V371A |
probably damaging |
Het |
Dhcr24 |
A |
G |
4: 106,435,450 (GRCm39) |
T314A |
probably benign |
Het |
Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
Disp2 |
C |
T |
2: 118,621,778 (GRCm39) |
Q837* |
probably null |
Het |
Dusp3 |
A |
T |
11: 101,875,561 (GRCm39) |
M1K |
probably null |
Het |
Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
Eddm13 |
G |
T |
7: 6,280,541 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
C |
3: 154,454,109 (GRCm39) |
D625A |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,201,691 (GRCm39) |
S461L |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,436,342 (GRCm39) |
|
probably benign |
Het |
Foxi1 |
A |
G |
11: 34,157,594 (GRCm39) |
Y144H |
probably damaging |
Het |
Ftcd |
G |
A |
10: 76,423,202 (GRCm39) |
V458M |
probably damaging |
Het |
Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
Gnpda1 |
C |
T |
18: 38,466,380 (GRCm39) |
R79Q |
probably benign |
Het |
Gpr65 |
T |
A |
12: 98,242,259 (GRCm39) |
I304K |
probably damaging |
Het |
Grem1 |
T |
C |
2: 113,580,021 (GRCm39) |
E160G |
probably benign |
Het |
Gria2 |
T |
A |
3: 80,599,608 (GRCm39) |
K759* |
probably null |
Het |
Gsg1l |
A |
G |
7: 125,557,745 (GRCm39) |
S128P |
probably damaging |
Het |
Hdac1 |
A |
T |
4: 129,415,221 (GRCm39) |
I240N |
probably damaging |
Het |
Hic2 |
C |
T |
16: 17,076,578 (GRCm39) |
T469M |
probably benign |
Het |
Hoxc10 |
A |
C |
15: 102,875,522 (GRCm39) |
D77A |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,875,132 (GRCm39) |
S361P |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
Klk1b24 |
A |
G |
7: 43,837,653 (GRCm39) |
|
probably null |
Het |
Letm1 |
T |
A |
5: 33,926,811 (GRCm39) |
H162L |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,026,890 (GRCm39) |
Y573F |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,405,901 (GRCm39) |
I330N |
probably damaging |
Het |
Mchr1 |
T |
A |
15: 81,121,436 (GRCm39) |
I62N |
probably damaging |
Het |
Mcm8 |
C |
T |
2: 132,685,476 (GRCm39) |
Q803* |
probably null |
Het |
Msh3 |
T |
G |
13: 92,349,004 (GRCm39) |
D1075A |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,291,950 (GRCm39) |
V235D |
probably benign |
Het |
Mthfd2l |
A |
T |
5: 91,122,254 (GRCm39) |
D253V |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,555,081 (GRCm39) |
V901A |
possibly damaging |
Het |
Muc20 |
A |
T |
16: 32,614,222 (GRCm39) |
I385N |
probably damaging |
Het |
Myo6 |
G |
T |
9: 80,193,082 (GRCm39) |
C829F |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,841,940 (GRCm39) |
I1914V |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,217,938 (GRCm39) |
E1462G |
probably damaging |
Het |
Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,452,520 (GRCm39) |
K15R |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,937 (GRCm39) |
S139P |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,053,900 (GRCm39) |
F120S |
probably damaging |
Het |
Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
Or10al2 |
A |
G |
17: 37,983,554 (GRCm39) |
I213M |
probably damaging |
Het |
Or13a25 |
A |
G |
7: 140,248,048 (GRCm39) |
T276A |
probably benign |
Het |
Or4f47 |
T |
G |
2: 111,973,065 (GRCm39) |
Y258* |
probably null |
Het |
Or5c1 |
T |
A |
2: 37,222,430 (GRCm39) |
F224I |
probably benign |
Het |
Or5p58 |
A |
C |
7: 107,694,816 (GRCm39) |
|
probably null |
Het |
Or9s27 |
A |
G |
1: 92,516,837 (GRCm39) |
I262V |
probably benign |
Het |
Plekha6 |
T |
C |
1: 133,201,651 (GRCm39) |
S355P |
probably benign |
Het |
Prdm14 |
T |
C |
1: 13,189,082 (GRCm39) |
K421E |
probably damaging |
Het |
Prss36 |
A |
G |
7: 127,532,625 (GRCm39) |
L731P |
probably damaging |
Het |
Rad51d |
A |
G |
11: 82,774,764 (GRCm39) |
L97P |
probably damaging |
Het |
Rbl1 |
C |
A |
2: 157,005,454 (GRCm39) |
|
probably null |
Het |
Rnh1 |
G |
T |
7: 140,744,519 (GRCm39) |
A52D |
possibly damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
Samd4 |
A |
T |
14: 47,326,532 (GRCm39) |
N454I |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,769,135 (GRCm39) |
I32T |
probably benign |
Het |
Sap30l |
A |
T |
11: 57,696,925 (GRCm39) |
N85I |
probably damaging |
Het |
Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
Snx16 |
A |
G |
3: 10,484,221 (GRCm39) |
V334A |
probably damaging |
Het |
Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Srpra |
A |
T |
9: 35,124,147 (GRCm39) |
N31I |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,051,502 (GRCm39) |
|
probably null |
Het |
Stxbp2 |
G |
T |
8: 3,684,064 (GRCm39) |
A124S |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,343,970 (GRCm39) |
K700R |
probably damaging |
Het |
Tatdn2 |
A |
T |
6: 113,679,060 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
A |
5: 83,439,134 (GRCm39) |
T226I |
probably damaging |
Het |
Timeless |
T |
G |
10: 128,083,477 (GRCm39) |
V702G |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,962,753 (GRCm39) |
S1061R |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,587,011 (GRCm39) |
C67S |
probably damaging |
Het |
Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
Ttc39c |
T |
A |
18: 12,817,881 (GRCm39) |
|
probably null |
Het |
Ttll7 |
C |
T |
3: 146,600,160 (GRCm39) |
P23S |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,927,107 (GRCm39) |
F290S |
probably damaging |
Het |
Ubap2l |
T |
C |
3: 89,926,538 (GRCm39) |
Y623C |
probably damaging |
Het |
Ube3a |
A |
G |
7: 58,925,714 (GRCm39) |
E164G |
probably damaging |
Het |
Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
Ugp2 |
G |
A |
11: 21,279,915 (GRCm39) |
T283I |
probably damaging |
Het |
Vmn1r55 |
A |
T |
7: 5,149,919 (GRCm39) |
I168N |
probably benign |
Het |
Wdr27 |
A |
C |
17: 15,112,703 (GRCm39) |
S668A |
probably damaging |
Het |
Wnt2 |
T |
A |
6: 18,008,696 (GRCm39) |
N247I |
probably damaging |
Het |
Zfp850 |
A |
T |
7: 27,684,700 (GRCm39) |
C15* |
probably null |
Het |
Zfp959 |
A |
G |
17: 56,204,677 (GRCm39) |
|
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 |
|
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'- ATGCAAAGTGTCCTTCATCTAGCCC -3'
(R):5'- TCTTAAAGGTGGCCTTGGCCTCTC -3'
Sequencing Primer
(F):5'- TATCCAAACTATGCCAATGGGG -3'
(R):5'- GGCCTTTCCATCGAAGAAGC -3'
|
Posted On |
2014-05-23 |