Incidental Mutation 'R1167:Sbf2'
| ID |
101134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
039240-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R1167 (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 T
at 109963756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1030
(W1030R)
|
| 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: W1076R
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: W1076R
| 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 |
unknown
Transcript: ENSMUST00000164525
AA Change: W13R
|
| SMART Domains |
Protein: ENSMUSP00000128340
Gene: ENSMUSG00000038371
AA Change: W13R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164759
AA Change: W1076R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: W1076R
| 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: W1030R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: W1030R
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,643,003 (GRCm39) |
D315V |
probably damaging |
Het |
| Acr |
T |
C |
15: 89,458,177 (GRCm39) |
I286T |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,026,420 (GRCm39) |
S292P |
probably benign |
Het |
| Apol6 |
T |
A |
15: 76,931,308 (GRCm39) |
Y17* |
probably null |
Het |
| Arhgap22 |
A |
G |
14: 33,065,264 (GRCm39) |
|
probably null |
Het |
| Bfar |
A |
G |
16: 13,516,758 (GRCm39) |
K202E |
possibly damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,898,463 (GRCm39) |
S470C |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,772,484 (GRCm39) |
E623G |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,375,822 (GRCm39) |
|
probably null |
Het |
| Clptm1 |
A |
T |
7: 19,368,136 (GRCm39) |
M523K |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,561,312 (GRCm39) |
W117R |
probably damaging |
Het |
| Dnmt3c |
T |
G |
2: 153,553,701 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,262,939 (GRCm39) |
E2212G |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,245,795 (GRCm39) |
T238A |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,369,625 (GRCm39) |
V10A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,606,079 (GRCm39) |
S225P |
possibly damaging |
Het |
| Fem1al |
C |
T |
11: 29,773,567 (GRCm39) |
R630H |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,032,857 (GRCm39) |
L296Q |
probably damaging |
Het |
| Foxn1 |
A |
T |
11: 78,249,892 (GRCm39) |
N544K |
probably damaging |
Het |
| Gga1 |
C |
G |
15: 78,772,370 (GRCm39) |
N223K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm4884 |
A |
T |
7: 40,693,336 (GRCm39) |
Q435L |
possibly damaging |
Het |
| Gm8444 |
T |
C |
15: 81,727,581 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,254,719 (GRCm39) |
S131A |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,872,477 (GRCm39) |
L88P |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,900,111 (GRCm39) |
S123N |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,472,259 (GRCm39) |
Q344* |
probably null |
Het |
| Lrrc8e |
A |
T |
8: 4,285,337 (GRCm39) |
M521L |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,087,203 (GRCm39) |
D113E |
possibly damaging |
Het |
| Nek4 |
G |
A |
14: 30,696,302 (GRCm39) |
R499H |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,341,719 (GRCm39) |
D2011G |
possibly damaging |
Het |
| Ola1 |
A |
G |
2: 72,927,538 (GRCm39) |
V347A |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,591,829 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or6c75 |
G |
A |
10: 129,337,019 (GRCm39) |
V89I |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,635 (GRCm39) |
V162A |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,378 (GRCm39) |
T433A |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,552 (GRCm39) |
R312G |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,772,099 (GRCm39) |
N398D |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,996 (GRCm39) |
Y160H |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,693 (GRCm39) |
D190E |
probably benign |
Het |
| Prb1c |
G |
A |
6: 132,338,553 (GRCm39) |
P222S |
unknown |
Het |
| R3hdm4 |
A |
G |
10: 79,747,907 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
A |
11: 20,173,172 (GRCm39) |
T91K |
possibly damaging |
Het |
| Rad9a |
A |
G |
19: 4,247,501 (GRCm39) |
V215A |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,159 (GRCm39) |
V84A |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,243,458 (GRCm39) |
T270M |
probably damaging |
Het |
| Rho |
A |
G |
6: 115,912,384 (GRCm39) |
T100A |
probably damaging |
Het |
| Rnft2 |
T |
C |
5: 118,366,947 (GRCm39) |
I264V |
possibly damaging |
Het |
| Robo3 |
A |
T |
9: 37,335,203 (GRCm39) |
Y567* |
probably null |
Het |
| Rpp14 |
T |
A |
14: 8,083,705 (GRCm38) |
|
probably null |
Het |
| Rtkn2 |
T |
C |
10: 67,833,450 (GRCm39) |
S98P |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,674,999 (GRCm39) |
V3376A |
possibly damaging |
Het |
| Setbp1 |
G |
A |
18: 78,900,451 (GRCm39) |
A1072V |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,058,918 (GRCm39) |
K142E |
probably damaging |
Het |
| Slc52a2 |
A |
G |
15: 76,423,791 (GRCm39) |
E40G |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,891,312 (GRCm39) |
N784S |
possibly damaging |
Het |
| Spats2l |
A |
T |
1: 57,982,270 (GRCm39) |
Q384L |
probably damaging |
Het |
| Steap4 |
A |
C |
5: 8,026,520 (GRCm39) |
K161T |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,392,438 (GRCm39) |
S188G |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,455 (GRCm39) |
D148N |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 36,755,511 (GRCm39) |
K162N |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,427,221 (GRCm39) |
V146A |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,323 (GRCm39) |
S100P |
possibly damaging |
Het |
| Trim56 |
T |
C |
5: 137,141,374 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,131,929 (GRCm39) |
S13P |
probably damaging |
Het |
| Usp49 |
A |
G |
17: 47,983,151 (GRCm39) |
D52G |
possibly damaging |
Het |
| Vegfc |
A |
C |
8: 54,639,078 (GRCm39) |
Y408S |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,954 (GRCm39) |
N280S |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,951,042 (GRCm39) |
L134F |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,023,797 (GRCm39) |
I2437F |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,311,814 (GRCm39) |
L783* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,258 (GRCm39) |
R351H |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,947,861 (GRCm39) |
F700I |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation