Incidental Mutation 'R0092:Sbf2'
| ID |
20284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
038379-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R0092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 109920013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033058
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
| 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: ENSMUST00000164759
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
| 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: ENSMUST00000165992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166020
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
99% (112/113) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,662,762 (GRCm39) |
S535T |
probably benign |
Het |
| Acad11 |
A |
T |
9: 103,967,540 (GRCm39) |
|
probably benign |
Het |
| Acadm |
A |
T |
3: 153,647,512 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,889,684 (GRCm39) |
M12K |
probably damaging |
Het |
| Actr2 |
A |
T |
11: 20,044,308 (GRCm39) |
N99K |
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,291,336 (GRCm39) |
A314V |
probably damaging |
Het |
| Agl |
C |
T |
3: 116,587,453 (GRCm39) |
R34Q |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,410 (GRCm39) |
R338H |
probably damaging |
Het |
| AI661453 |
A |
G |
17: 47,778,440 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,301 (GRCm39) |
D706G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,208,361 (GRCm39) |
E648G |
probably damaging |
Het |
| Astn2 |
C |
A |
4: 66,322,219 (GRCm39) |
A127S |
unknown |
Het |
| Asxl2 |
T |
C |
12: 3,546,313 (GRCm39) |
S366P |
probably benign |
Het |
| Bdh1 |
A |
T |
16: 31,266,380 (GRCm39) |
K92* |
probably null |
Het |
| Bltp1 |
A |
G |
3: 37,082,308 (GRCm39) |
D3790G |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,348,090 (GRCm39) |
S666N |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,563,144 (GRCm39) |
T361A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,890,513 (GRCm39) |
E1927V |
probably benign |
Het |
| Ctnnb1 |
T |
G |
9: 120,781,929 (GRCm39) |
I314S |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,224 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,699,844 (GRCm39) |
F232I |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,499,013 (GRCm39) |
N950S |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,914,078 (GRCm39) |
N14S |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,100,146 (GRCm39) |
V1004D |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 30,993,566 (GRCm39) |
S2872A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,156,026 (GRCm39) |
V233A |
probably damaging |
Het |
| E230025N22Rik |
A |
G |
18: 36,822,277 (GRCm39) |
L162P |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,543,792 (GRCm39) |
D333G |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,593,745 (GRCm39) |
M846K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,497,217 (GRCm39) |
Y1766H |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,402 (GRCm39) |
R258G |
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,713 (GRCm39) |
Y888C |
probably damaging |
Het |
| Hephl1 |
TTCCAGATGTCC |
TTCC |
9: 15,001,899 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,720,164 (GRCm39) |
D482G |
probably damaging |
Het |
| Itgb4 |
G |
T |
11: 115,869,950 (GRCm39) |
R44L |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,662,820 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
A |
5: 75,808,414 (GRCm39) |
S719R |
possibly damaging |
Het |
| Krt13 |
G |
A |
11: 100,012,258 (GRCm39) |
Q22* |
probably null |
Het |
| L3mbtl4 |
A |
C |
17: 68,732,698 (GRCm39) |
R59S |
probably benign |
Het |
| Lpp |
A |
G |
16: 24,580,352 (GRCm39) |
S23G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,958,280 (GRCm39) |
Q602* |
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,966,079 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,372,367 (GRCm39) |
E2667G |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,633 (GRCm39) |
C134Y |
possibly damaging |
Het |
| Myo15b |
C |
G |
11: 115,753,812 (GRCm39) |
S842C |
possibly damaging |
Het |
| Naf1 |
T |
A |
8: 67,341,760 (GRCm39) |
S462T |
probably benign |
Het |
| Necab3 |
T |
C |
2: 154,400,659 (GRCm39) |
D34G |
possibly damaging |
Het |
| Nisch |
C |
A |
14: 30,913,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,216,222 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
T |
C |
11: 102,937,319 (GRCm39) |
F119L |
probably damaging |
Het |
| Nod1 |
T |
G |
6: 54,921,526 (GRCm39) |
D264A |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nt5e |
T |
A |
9: 88,252,338 (GRCm39) |
F567I |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,942,073 (GRCm39) |
M4434K |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,444,412 (GRCm39) |
D866V |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,031 (GRCm39) |
V145A |
probably benign |
Het |
| Or10al3 |
T |
G |
17: 38,011,696 (GRCm39) |
L45R |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,090 (GRCm39) |
S87P |
probably damaging |
Het |
| Or1j21 |
A |
G |
2: 36,683,508 (GRCm39) |
T87A |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,586,934 (GRCm39) |
S116P |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,174 (GRCm39) |
V311E |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,642,944 (GRCm39) |
D407G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,149 (GRCm39) |
W23R |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,166,321 (GRCm39) |
V129A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,629 (GRCm39) |
R483G |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,047,309 (GRCm39) |
V225A |
probably benign |
Het |
| Plcl1 |
C |
G |
1: 55,735,924 (GRCm39) |
Q422E |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,943 (GRCm39) |
E1222G |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,439 (GRCm39) |
|
probably benign |
Het |
| Prokr2 |
C |
T |
2: 132,215,517 (GRCm39) |
V154M |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,557 (GRCm39) |
R280G |
possibly damaging |
Het |
| Rmnd5b |
T |
C |
11: 51,520,419 (GRCm39) |
E8G |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,408,830 (GRCm39) |
M172V |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,305 (GRCm39) |
V930A |
probably benign |
Het |
| Sft2d2 |
G |
A |
1: 165,006,829 (GRCm39) |
A159V |
possibly damaging |
Het |
| Sh3gl1 |
G |
T |
17: 56,325,088 (GRCm39) |
R250S |
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,053,277 (GRCm39) |
D231Y |
probably damaging |
Het |
| Slc24a1 |
T |
G |
9: 64,856,034 (GRCm39) |
E291A |
unknown |
Het |
| Slc28a2b |
G |
T |
2: 122,348,078 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,951,925 (GRCm39) |
|
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,644,844 (GRCm39) |
N177K |
possibly damaging |
Het |
| Tdp1 |
T |
A |
12: 99,921,248 (GRCm39) |
Y595N |
probably damaging |
Het |
| Tle5 |
G |
A |
10: 81,397,054 (GRCm39) |
G10D |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,366,504 (GRCm39) |
K496E |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,487,959 (GRCm39) |
D490G |
probably damaging |
Het |
| Tnrc6b |
A |
T |
15: 80,802,729 (GRCm39) |
N1511Y |
probably damaging |
Het |
| Top2b |
G |
A |
14: 16,409,263 (GRCm38) |
R802Q |
probably damaging |
Het |
| Trip10 |
A |
T |
17: 57,557,798 (GRCm39) |
K27N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,503 (GRCm39) |
N445D |
possibly damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,715,636 (GRCm39) |
I159N |
probably damaging |
Het |
| Ulk1 |
C |
A |
5: 110,944,193 (GRCm39) |
A164S |
probably null |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,798 (GRCm39) |
V802A |
probably damaging |
Het |
| Zbtb4 |
A |
G |
11: 69,670,177 (GRCm39) |
I967V |
probably benign |
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 |
|
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 |
|
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'- CTTGCTGTAACTGGTGTAGGAGAGC -3'
(R):5'- AACATAAAGCATCCAGTCCTCTGGC -3'
Sequencing Primer
(F):5'- TGGGATCAGTTACACCATTGACG -3'
(R):5'- GCCACACGCTGTGTTAATTTATG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation