Incidental Mutation 'R6450:Sbf2'
| ID |
519351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
044586-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R6450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110062070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 23
(G23V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: G169V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: G169V
| 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: G169V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: G169V
| 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 damaging
Transcript: ENSMUST00000166020
AA Change: G123V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: G123V
| 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 damaging
Transcript: ENSMUST00000166885
AA Change: G23V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: G23V
| 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: G169V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: G169V
| 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
|
| Meta Mutation Damage Score |
0.5952 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.1%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
G |
7: 119,815,449 (GRCm39) |
N232K |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,171,294 (GRCm39) |
V5E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,119,691 (GRCm39) |
D529E |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,459,683 (GRCm39) |
T798A |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,486,872 (GRCm39) |
T130A |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 103,044,990 (GRCm39) |
S591G |
probably benign |
Het |
| Carmil1 |
C |
T |
13: 24,220,547 (GRCm39) |
G655E |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,518 (GRCm39) |
|
probably null |
Het |
| Clec12a |
T |
A |
6: 129,330,366 (GRCm39) |
L48H |
probably damaging |
Het |
| Coq2 |
C |
A |
5: 100,809,770 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,838 (GRCm39) |
F1113L |
possibly damaging |
Het |
| Ctla4 |
A |
T |
1: 60,951,872 (GRCm39) |
M134L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dync2i1 |
A |
T |
12: 116,210,347 (GRCm39) |
Y314* |
probably null |
Het |
| Efhb |
A |
G |
17: 53,759,632 (GRCm39) |
V290A |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Eva1a |
A |
T |
6: 82,069,086 (GRCm39) |
I138F |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,136 (GRCm39) |
I1402F |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,910,466 (GRCm39) |
H1845Q |
possibly damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,385 (GRCm39) |
F401L |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,152 (GRCm39) |
R166Q |
possibly damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,433 (GRCm39) |
P348S |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,251,812 (GRCm39) |
V849A |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,686,045 (GRCm39) |
N696K |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 927,056 (GRCm39) |
R598L |
probably damaging |
Homo |
| Kidins220 |
T |
C |
12: 25,107,190 (GRCm39) |
S1548P |
probably benign |
Het |
| Kif2b |
C |
A |
11: 91,467,192 (GRCm39) |
V364L |
probably damaging |
Het |
| Kitl |
A |
G |
10: 99,923,256 (GRCm39) |
M1V |
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Map6 |
T |
C |
7: 98,917,245 (GRCm39) |
I6T |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,010,941 (GRCm39) |
T768A |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,696,164 (GRCm39) |
V335A |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,305,897 (GRCm39) |
|
probably null |
Het |
| Myo5c |
C |
T |
9: 75,193,860 (GRCm39) |
T1205I |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,244,114 (GRCm39) |
L2114I |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,084,481 (GRCm39) |
K5330* |
probably null |
Het |
| Nfe2l1 |
C |
T |
11: 96,718,161 (GRCm39) |
E125K |
possibly damaging |
Het |
| Onecut3 |
A |
G |
10: 80,331,922 (GRCm39) |
K361E |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,725 (GRCm39) |
L145* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,395,174 (GRCm39) |
N370S |
possibly damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| P2rx4 |
A |
G |
5: 122,865,304 (GRCm39) |
T310A |
possibly damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,146,215 (GRCm39) |
D769Y |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,037,527 (GRCm39) |
R124H |
probably benign |
Het |
| Pibf1 |
T |
A |
14: 99,374,646 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,468 (GRCm39) |
E422G |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,709,606 (GRCm39) |
I85V |
possibly damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,988 (GRCm39) |
K225* |
probably null |
Het |
| Rai1 |
A |
T |
11: 60,077,429 (GRCm39) |
T498S |
probably benign |
Het |
| Sdha |
C |
T |
13: 74,482,412 (GRCm39) |
|
probably null |
Het |
| Sgo2a |
C |
T |
1: 58,042,092 (GRCm39) |
Q140* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,966 (GRCm39) |
D259G |
probably damaging |
Het |
| Slc27a3 |
C |
A |
3: 90,292,777 (GRCm39) |
D631Y |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,886,015 (GRCm39) |
S37P |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,192 (GRCm39) |
T88A |
probably benign |
Het |
| Smad4 |
A |
T |
18: 73,810,817 (GRCm39) |
S56T |
possibly damaging |
Het |
| Smarcd1 |
A |
G |
15: 99,605,766 (GRCm39) |
I346V |
possibly damaging |
Het |
| Spast |
C |
T |
17: 74,675,835 (GRCm39) |
P260S |
probably benign |
Het |
| Spata31f1e |
C |
A |
4: 42,792,489 (GRCm39) |
G548W |
probably damaging |
Het |
| Sprr2i |
A |
T |
3: 92,316,017 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,877,616 (GRCm39) |
|
probably benign |
Het |
| Taar9 |
A |
T |
10: 23,985,138 (GRCm39) |
Y99N |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,045,284 (GRCm39) |
M468K |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,945 (GRCm39) |
R814G |
probably benign |
Het |
| Tspan31 |
A |
G |
10: 126,904,227 (GRCm39) |
C157R |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,498 (GRCm39) |
D554G |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,305,527 (GRCm39) |
D70V |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,830,649 (GRCm39) |
G928R |
probably damaging |
Het |
| Zfp346 |
G |
T |
13: 55,261,517 (GRCm39) |
K102N |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,789,099 (GRCm39) |
P1002S |
probably 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 |
|
|
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 |
|
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'- TCAGCCTCTTGACCTATGAAAAG -3'
(R):5'- GAGGTGCCTGTTTTACAAATTATGG -3'
Sequencing Primer
(F):5'- GCCTCTTGACCTATGAAAAGAATGG -3'
(R):5'- GAAATTTTCCTAGCAGAGATGTCAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation