Incidental Mutation 'R8786:Sbf2'
| ID |
670637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
068632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R8786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110063793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166885
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167652
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171218
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
| 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 |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
T |
3: 95,592,784 (GRCm39) |
M1K |
probably null |
Het |
| Atg2a |
G |
T |
19: 6,294,460 (GRCm39) |
V59L |
probably damaging |
Het |
| Atxn7 |
C |
A |
14: 14,103,316 (GRCm38) |
T888K |
possibly damaging |
Het |
| Btbd9 |
T |
C |
17: 30,749,144 (GRCm39) |
R57G |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,843,362 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
G |
A |
1: 177,843,555 (GRCm39) |
|
probably benign |
Het |
| Ccdc9b |
C |
A |
2: 118,587,732 (GRCm39) |
S534I |
unknown |
Het |
| Crp |
T |
C |
1: 172,526,293 (GRCm39) |
V126A |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,247,942 (GRCm39) |
T337S |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,296,439 (GRCm39) |
N299S |
probably damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,665,830 (GRCm39) |
D985G |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,716,190 (GRCm39) |
T138A |
probably benign |
Het |
| Emid1 |
T |
C |
11: 5,081,517 (GRCm39) |
D212G |
probably benign |
Het |
| Epyc |
G |
A |
10: 97,511,525 (GRCm39) |
D173N |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,052,298 (GRCm39) |
D162G |
probably benign |
Het |
| Firrm |
A |
T |
1: 163,792,040 (GRCm39) |
L626Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,317,501 (GRCm39) |
V827A |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,505 (GRCm39) |
E226G |
probably benign |
Het |
| Gopc |
G |
A |
10: 52,230,750 (GRCm39) |
R183* |
probably null |
Het |
| Grik4 |
C |
T |
9: 42,453,130 (GRCm39) |
G752S |
probably damaging |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| H2-Q1 |
T |
A |
17: 35,539,869 (GRCm39) |
V46D |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,219,862 (GRCm39) |
N126S |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,063 (GRCm39) |
T706I |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,669,864 (GRCm39) |
D117G |
probably damaging |
Het |
| Kmt5a |
C |
T |
5: 124,584,074 (GRCm39) |
A18V |
probably benign |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,465 (GRCm39) |
G139R |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,838,100 (GRCm39) |
Y872C |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,752 (GRCm39) |
M260K |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,472,755 (GRCm39) |
|
probably benign |
Het |
| Mrpl51 |
C |
T |
6: 125,169,340 (GRCm39) |
A8V |
probably benign |
Het |
| Ndufs3 |
T |
C |
2: 90,732,778 (GRCm39) |
T103A |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,647,616 (GRCm39) |
L449R |
probably benign |
Het |
| Or10g3b |
C |
T |
14: 52,587,021 (GRCm39) |
A161T |
possibly damaging |
Het |
| Pan3 |
C |
T |
5: 147,424,951 (GRCm39) |
P295S |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,704,134 (GRCm39) |
S846P |
probably damaging |
Het |
| Phf2 |
A |
T |
13: 48,967,219 (GRCm39) |
M712K |
unknown |
Het |
| Phlda2 |
A |
T |
7: 143,056,211 (GRCm39) |
V6E |
probably benign |
Het |
| Pkdrej |
C |
A |
15: 85,704,044 (GRCm39) |
A631S |
probably benign |
Het |
| Plcd3 |
G |
T |
11: 102,962,569 (GRCm39) |
N627K |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,262,415 (GRCm39) |
I138T |
possibly damaging |
Het |
| Psd4 |
G |
A |
2: 24,295,444 (GRCm39) |
S866N |
probably benign |
Het |
| Ptprb |
A |
C |
10: 116,155,306 (GRCm39) |
T400P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,570,677 (GRCm39) |
|
probably null |
Het |
| Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
| Setd4 |
C |
T |
16: 93,390,162 (GRCm39) |
R89Q |
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,763,152 (GRCm39) |
I343T |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,658 (GRCm39) |
D186G |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,680,549 (GRCm39) |
I191N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,232,549 (GRCm39) |
D251V |
probably benign |
Het |
| Slc6a5 |
A |
T |
7: 49,561,843 (GRCm39) |
D125V |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,274,806 (GRCm39) |
I16F |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,031,334 (GRCm39) |
V521A |
probably damaging |
Het |
| Spmip10 |
T |
C |
18: 56,727,568 (GRCm39) |
F89L |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,642,775 (GRCm39) |
L197P |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,797,905 (GRCm39) |
N39D |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,712,575 (GRCm39) |
T90S |
probably benign |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tas2r138 |
A |
G |
6: 40,589,611 (GRCm39) |
S212P |
probably damaging |
Het |
| Tdrd3 |
T |
A |
14: 87,709,637 (GRCm39) |
C106* |
probably null |
Het |
| Tlk2 |
C |
T |
11: 105,172,059 (GRCm39) |
A743V |
unknown |
Het |
| Tlr3 |
T |
C |
8: 45,851,286 (GRCm39) |
D537G |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,803,953 (GRCm39) |
Y375H |
probably damaging |
Het |
| Tsen54 |
T |
A |
11: 115,711,498 (GRCm39) |
M305K |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,076,581 (GRCm39) |
V62M |
possibly damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,010 (GRCm39) |
T201A |
probably benign |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,676 (GRCm39) |
T262A |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,838 (GRCm39) |
V404A |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,393 (GRCm39) |
F282L |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,636,327 (GRCm39) |
K982* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,127 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- TGCTTTCATCCAACACAAATCTGC -3'
(R):5'- GTGTTCATACCTGTAGTCTATAGAGC -3'
Sequencing Primer
(F):5'- CCAACACAAATCTGCTTTTTCATG -3'
(R):5'- CCTGTAGTCTATAGAGCTTTGAAAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation