Incidental Mutation 'R7431:Sbf2'
ID |
576471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbf2
|
Ensembl Gene |
ENSMUSG00000038371 |
Gene Name |
SET binding factor 2 |
Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
MMRRC Submission |
045509-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
R7431 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 109950957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1163
(D1163E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
AlphaFold |
E9PXF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: D1163E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033058 Gene: ENSMUSG00000038371 AA Change: D1163E
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 |
|
SMART Domains |
Protein: ENSMUSP00000128340 Gene: ENSMUSG00000038371 AA Change: D100E
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 |
|
SMART Domains |
Protein: ENSMUSP00000131927 Gene: ENSMUSG00000038371 AA Change: D48E
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164759
AA Change: D1163E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132072 Gene: ENSMUSG00000038371 AA Change: D1163E
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: D1117E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126217 Gene: ENSMUSG00000038371 AA Change: D1117E
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 |
0.5557 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
97% (77/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
Abcf3 |
G |
T |
16: 20,377,539 (GRCm39) |
R510L |
probably benign |
Het |
Abcg4 |
T |
A |
9: 44,185,997 (GRCm39) |
I625F |
possibly damaging |
Het |
Adam22 |
A |
T |
5: 8,142,818 (GRCm39) |
S806T |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,010,129 (GRCm39) |
I718V |
probably benign |
Het |
Adgb |
A |
T |
10: 10,267,699 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
T |
A |
4: 72,769,678 (GRCm39) |
K377* |
probably null |
Het |
Apc2 |
T |
A |
10: 80,138,017 (GRCm39) |
V100E |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,650,010 (GRCm39) |
D666E |
probably damaging |
Het |
Atg4c |
A |
T |
4: 99,109,632 (GRCm39) |
I200F |
possibly damaging |
Het |
Atp1a4 |
A |
G |
1: 172,078,474 (GRCm39) |
F255L |
probably benign |
Het |
Bod1l |
A |
C |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
A |
T |
6: 119,221,237 (GRCm39) |
T250S |
probably damaging |
Het |
Ccdc202 |
A |
G |
14: 96,119,273 (GRCm39) |
H10R |
probably benign |
Het |
Ccng1 |
G |
A |
11: 40,644,745 (GRCm39) |
R51W |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,868,248 (GRCm39) |
E366G |
possibly damaging |
Het |
Clca4b |
A |
T |
3: 144,616,894 (GRCm39) |
S919T |
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,682,131 (GRCm39) |
*1740W |
probably null |
Het |
Col6a5 |
A |
T |
9: 105,805,468 (GRCm39) |
I1146K |
unknown |
Het |
Cpxm1 |
T |
C |
2: 130,235,966 (GRCm39) |
T399A |
probably benign |
Het |
Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
Cyp2b13 |
T |
A |
7: 25,760,976 (GRCm39) |
V11D |
probably damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,906 (GRCm39) |
T189A |
probably benign |
Het |
Desi2 |
C |
T |
1: 178,084,007 (GRCm39) |
Q52* |
probably null |
Het |
Dhx15 |
A |
G |
5: 52,319,953 (GRCm39) |
V418A |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,650,967 (GRCm39) |
M978L |
probably damaging |
Het |
Dpagt1 |
T |
A |
9: 44,237,384 (GRCm39) |
C17* |
probably null |
Het |
Dph5 |
A |
T |
3: 115,686,381 (GRCm39) |
K52N |
possibly damaging |
Het |
Dpp4 |
G |
T |
2: 62,182,582 (GRCm39) |
N566K |
probably benign |
Het |
Elavl4 |
T |
C |
4: 110,083,830 (GRCm39) |
Y94C |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,199,927 (GRCm39) |
T1049I |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,306 (GRCm39) |
Y4421N |
possibly damaging |
Het |
Fcrl2 |
C |
A |
3: 87,166,233 (GRCm39) |
A181S |
probably damaging |
Het |
Garre1 |
T |
C |
7: 33,984,219 (GRCm39) |
I135V |
possibly damaging |
Het |
Glg1 |
G |
T |
8: 111,887,386 (GRCm39) |
N456K |
unknown |
Het |
Gm10228 |
A |
G |
16: 88,838,101 (GRCm39) |
S68P |
unknown |
Het |
Golga4 |
G |
A |
9: 118,388,799 (GRCm39) |
E1974K |
probably damaging |
Het |
Heatr9 |
G |
T |
11: 83,410,094 (GRCm39) |
P49Q |
probably damaging |
Het |
Hmgxb3 |
A |
T |
18: 61,280,517 (GRCm39) |
V662D |
probably damaging |
Het |
Hs3st4 |
T |
C |
7: 123,582,513 (GRCm39) |
L37P |
probably damaging |
Het |
Ifi205 |
A |
T |
1: 173,855,943 (GRCm39) |
M29K |
probably benign |
Het |
Igkv1-35 |
C |
T |
6: 69,987,988 (GRCm39) |
V103M |
probably damaging |
Het |
Klf13 |
T |
A |
7: 63,541,504 (GRCm39) |
K208* |
probably null |
Het |
Klhl36 |
A |
G |
8: 120,597,121 (GRCm39) |
N274S |
probably benign |
Het |
Mosmo |
T |
A |
7: 120,329,873 (GRCm39) |
L165I |
probably benign |
Het |
Mtcl1 |
G |
A |
17: 66,649,901 (GRCm39) |
Q1855* |
probably null |
Het |
Muc16 |
A |
G |
9: 18,519,289 (GRCm39) |
V208A |
|
Het |
Nin |
T |
G |
12: 70,124,997 (GRCm39) |
R108S |
|
Het |
Odad1 |
T |
G |
7: 45,578,670 (GRCm39) |
L81R |
probably damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,882 (GRCm39) |
N43S |
probably damaging |
Het |
Polr1a |
G |
A |
6: 71,903,643 (GRCm39) |
V319I |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,320,282 (GRCm39) |
V337A |
possibly damaging |
Het |
Prkar2b |
A |
T |
12: 32,013,150 (GRCm39) |
|
probably null |
Het |
R3hdm2 |
T |
A |
10: 127,294,016 (GRCm39) |
M170K |
probably benign |
Het |
Rbm26 |
A |
G |
14: 105,354,528 (GRCm39) |
I919T |
possibly damaging |
Het |
Rimkla |
A |
G |
4: 119,335,008 (GRCm39) |
M125T |
probably benign |
Het |
Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
Scgb2b24 |
T |
C |
7: 33,438,674 (GRCm39) |
I13V |
probably benign |
Het |
Scin |
G |
A |
12: 40,183,921 (GRCm39) |
H63Y |
probably damaging |
Het |
Sele |
A |
G |
1: 163,879,189 (GRCm39) |
T275A |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,805,256 (GRCm39) |
T144S |
probably benign |
Het |
Slc8a1 |
T |
A |
17: 81,749,092 (GRCm39) |
K650I |
probably benign |
Het |
Slc9c1 |
G |
T |
16: 45,413,847 (GRCm39) |
V992F |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,963,031 (GRCm39) |
T393S |
unknown |
Het |
Taf15 |
G |
A |
11: 83,395,779 (GRCm39) |
D495N |
unknown |
Het |
Tas2r144 |
T |
A |
6: 42,192,908 (GRCm39) |
I216N |
probably damaging |
Het |
Tbccd1 |
G |
T |
16: 22,644,563 (GRCm39) |
P271Q |
probably benign |
Het |
Tcf4 |
C |
A |
18: 69,480,249 (GRCm39) |
|
probably null |
Het |
Thap4 |
A |
T |
1: 93,678,223 (GRCm39) |
S188T |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,850,278 (GRCm39) |
V1262A |
possibly damaging |
Het |
Tspan2 |
T |
A |
3: 102,657,107 (GRCm39) |
W35R |
probably damaging |
Het |
Usp39 |
G |
T |
6: 72,313,251 (GRCm39) |
T313N |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,327,306 (GRCm39) |
L638Q |
probably damaging |
Het |
Vps29 |
T |
C |
5: 122,492,541 (GRCm39) |
V2A |
probably benign |
Het |
Wrap53 |
A |
G |
11: 69,469,313 (GRCm39) |
F148L |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,897,712 (GRCm39) |
Y404C |
probably damaging |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,580 (GRCm39) |
E118G |
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 |
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 |
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 |
|
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'- GAAATTCTTACCGGCTTGAGGG -3'
(R):5'- GCACATCTTGTTGTCATACCAAACC -3'
Sequencing Primer
(F):5'- GGAGTTCTGTGACTTGAATAGACC -3'
(R):5'- AAACACTCTTATTCCCTCTG -3'
|
Posted On |
2019-10-07 |