Incidental Mutation 'R1989:Sbf2'
ID |
223033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
040001-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R1989 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109948130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1194
(V1194A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: V1240A
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371 AA Change: V1240A
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
AA Change: V177A
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128340 Gene: ENSMUSG00000038371 AA Change: V177A
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 benign
Transcript: ENSMUST00000164599
AA Change: V125A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131927 Gene: ENSMUSG00000038371 AA Change: V125A
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164759
AA Change: V1240A
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371 AA Change: V1240A
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 |
possibly damaging
Transcript: ENSMUST00000166020
AA Change: V1194A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371 AA Change: V1194A
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
Acaca |
T |
C |
11: 84,153,355 (GRCm39) |
M921T |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,355,276 (GRCm39) |
W36R |
probably benign |
Het |
Adcy9 |
A |
T |
16: 4,116,591 (GRCm39) |
V643D |
probably damaging |
Het |
Agbl4 |
A |
T |
4: 111,423,879 (GRCm39) |
T302S |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,354,264 (GRCm39) |
N1795S |
probably benign |
Het |
Ang |
T |
A |
14: 51,339,008 (GRCm39) |
C50S |
probably damaging |
Het |
Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
Asxl3 |
T |
C |
18: 22,585,420 (GRCm39) |
V115A |
probably damaging |
Het |
B4galt5 |
A |
T |
2: 167,146,923 (GRCm39) |
W304R |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,965,652 (GRCm39) |
K1118E |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,611,386 (GRCm39) |
Y335C |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,568,970 (GRCm39) |
I881F |
probably damaging |
Het |
Ccn1 |
A |
T |
3: 145,353,498 (GRCm39) |
Y355N |
probably benign |
Het |
Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
Cyp2f2 |
A |
G |
7: 26,828,628 (GRCm39) |
D90G |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
E2f8 |
T |
C |
7: 48,523,028 (GRCm39) |
E349G |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,512,793 (GRCm39) |
M134T |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,690,784 (GRCm39) |
H59R |
probably damaging |
Het |
Focad |
T |
C |
4: 88,151,021 (GRCm39) |
|
probably null |
Het |
Gabra1 |
A |
T |
11: 42,045,842 (GRCm39) |
D89E |
probably damaging |
Het |
Hip1r |
G |
T |
5: 124,127,761 (GRCm39) |
V90F |
probably damaging |
Het |
Ifi213 |
C |
A |
1: 173,396,374 (GRCm39) |
|
probably null |
Het |
Kcnj9 |
A |
G |
1: 172,153,716 (GRCm39) |
I136T |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,703,542 (GRCm39) |
S3P |
possibly damaging |
Het |
Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
G |
A |
7: 65,931,432 (GRCm39) |
S43L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,391,519 (GRCm39) |
|
probably null |
Het |
Mad1l1 |
A |
G |
5: 140,289,425 (GRCm39) |
S167P |
probably benign |
Het |
Maml3 |
G |
T |
3: 51,605,179 (GRCm39) |
A64D |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,214,020 (GRCm39) |
M1T |
probably null |
Het |
Mkrn2os |
G |
T |
6: 115,566,311 (GRCm39) |
T88K |
probably damaging |
Het |
Mob3c |
T |
C |
4: 115,688,754 (GRCm39) |
Y96H |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,694,298 (GRCm39) |
I96N |
probably damaging |
Het |
Mup17 |
T |
A |
4: 61,511,860 (GRCm39) |
Y138F |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,183,550 (GRCm39) |
I754V |
probably benign |
Het |
Naa30 |
T |
A |
14: 49,415,597 (GRCm39) |
L289* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,080,921 (GRCm39) |
F292V |
probably damaging |
Het |
Nek5 |
T |
A |
8: 22,601,185 (GRCm39) |
N129Y |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,273,338 (GRCm39) |
E880G |
probably benign |
Het |
Nsun6 |
G |
T |
2: 15,042,995 (GRCm39) |
N155K |
probably benign |
Het |
Or2aj5 |
A |
T |
16: 19,425,407 (GRCm39) |
Y4N |
probably benign |
Het |
Or4c102 |
T |
A |
2: 88,422,943 (GRCm39) |
I265K |
probably damaging |
Het |
Or4f62 |
T |
A |
2: 111,986,722 (GRCm39) |
I142N |
probably benign |
Het |
Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
Or8d23 |
T |
C |
9: 38,842,171 (GRCm39) |
S235P |
possibly damaging |
Het |
Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
Ppp2r5d |
C |
T |
17: 46,995,025 (GRCm39) |
V559M |
probably benign |
Het |
Ptgfr |
A |
T |
3: 151,540,976 (GRCm39) |
Y177* |
probably null |
Het |
Rnase10 |
A |
T |
14: 51,247,095 (GRCm39) |
I121L |
probably benign |
Het |
Sall2 |
G |
A |
14: 52,551,896 (GRCm39) |
P431L |
probably damaging |
Het |
Scimp |
T |
C |
11: 70,682,402 (GRCm39) |
K105E |
possibly damaging |
Het |
Scrt2 |
A |
T |
2: 151,924,007 (GRCm39) |
D13V |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,339,404 (GRCm39) |
S181G |
possibly damaging |
Het |
Spata2 |
G |
A |
2: 167,326,234 (GRCm39) |
T195M |
possibly damaging |
Het |
Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
Srpk2 |
G |
A |
5: 23,723,421 (GRCm39) |
A565V |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,531,887 (GRCm39) |
I2715V |
probably benign |
Het |
Sval1 |
A |
G |
6: 41,932,425 (GRCm39) |
T92A |
possibly damaging |
Het |
Synrg |
T |
C |
11: 83,910,781 (GRCm39) |
|
probably null |
Het |
Tlr12 |
T |
C |
4: 128,510,862 (GRCm39) |
T463A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,902,351 (GRCm39) |
H945R |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,912,859 (GRCm39) |
D1791V |
probably damaging |
Het |
Topaz1 |
C |
T |
9: 122,579,190 (GRCm39) |
T700I |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,978,708 (GRCm39) |
V796A |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,858,780 (GRCm39) |
|
probably null |
Het |
Ttll4 |
G |
T |
1: 74,724,527 (GRCm39) |
V566L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,581,285 (GRCm39) |
N23203Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,601,131 (GRCm39) |
Y18781N |
probably damaging |
Het |
Tuba3a |
T |
C |
6: 125,258,216 (GRCm39) |
N258S |
probably damaging |
Het |
Upk1b |
A |
T |
16: 38,604,603 (GRCm39) |
W141R |
possibly damaging |
Het |
Vars1 |
T |
C |
17: 35,230,814 (GRCm39) |
F567L |
possibly damaging |
Het |
Vcpip1 |
G |
C |
1: 9,815,788 (GRCm39) |
A865G |
probably benign |
Het |
Vmn2r22 |
A |
T |
6: 123,614,500 (GRCm39) |
F363L |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,661,201 (GRCm39) |
F10I |
probably benign |
Het |
Wbp2 |
C |
T |
11: 115,971,047 (GRCm39) |
|
probably null |
Het |
Yy1 |
T |
C |
12: 108,772,534 (GRCm39) |
L270P |
probably damaging |
Het |
Zan |
A |
T |
5: 137,418,268 (GRCm39) |
C2943* |
probably null |
Het |
Zfp51 |
T |
A |
17: 21,676,582 (GRCm39) |
Y18N |
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 |
|
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'- AGACATTAACAGTGGTGCTTTG -3'
(R):5'- TGTATTGAAACCAGCATCAAAAGGC -3'
Sequencing Primer
(F):5'- AAGCTCAAGTTATGGTCTTTCATGG -3'
(R):5'- GGCAAGCCACAGAATACATTTAACG -3'
|
Posted On |
2014-08-25 |