Incidental Mutation 'R7556:Sbf2'
| ID |
584771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
045624-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R7556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109913260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1671
(K1671N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033058
AA Change: K1671N
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: K1671N
| 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
AA Change: K1646N
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: K1646N
| 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 |
possibly damaging
Transcript: ENSMUST00000166020
AA Change: K1625N
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: K1625N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,221,611 (GRCm39) |
W11* |
probably null |
Het |
| A2ml1 |
A |
G |
6: 128,546,927 (GRCm39) |
S401P |
probably damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,195,358 (GRCm39) |
Y592N |
probably benign |
Het |
| Adh6b |
C |
T |
3: 138,058,546 (GRCm39) |
T76I |
probably damaging |
Het |
| Aebp2 |
C |
A |
6: 140,623,137 (GRCm39) |
P503Q |
probably benign |
Het |
| Ankrd2 |
A |
G |
19: 42,028,839 (GRCm39) |
D134G |
|
Het |
| Atf7ip |
T |
C |
6: 136,538,239 (GRCm39) |
S491P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,991 (GRCm39) |
D832G |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,643,278 (GRCm39) |
V389I |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,178,589 (GRCm39) |
S2383P |
probably damaging |
Het |
| Brd9 |
A |
G |
13: 74,092,886 (GRCm39) |
D292G |
possibly damaging |
Het |
| Cacna1e |
G |
T |
1: 154,348,419 (GRCm39) |
Q781K |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,018,491 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
C |
G |
11: 113,619,366 (GRCm39) |
E342Q |
probably damaging |
Het |
| Celf3 |
C |
T |
3: 94,387,590 (GRCm39) |
T54M |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,664,008 (GRCm39) |
Y267H |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,339 (GRCm39) |
T312A |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,382,521 (GRCm39) |
T383S |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,242 (GRCm39) |
Q327R |
probably damaging |
Het |
| Cnep1r1 |
T |
C |
8: 88,851,761 (GRCm39) |
L50P |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,566,144 (GRCm39) |
N512S |
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,811,533 (GRCm39) |
|
probably null |
Het |
| Cryba4 |
C |
T |
5: 112,398,969 (GRCm39) |
R25Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,290,389 (GRCm39) |
I1260V |
probably null |
Het |
| Dock2 |
G |
T |
11: 34,611,778 (GRCm39) |
T195K |
probably benign |
Het |
| Dpp9 |
A |
T |
17: 56,497,012 (GRCm39) |
I740N |
possibly damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,674,741 (GRCm39) |
N31Y |
probably benign |
Het |
| Frat1 |
G |
A |
19: 41,818,959 (GRCm39) |
R118Q |
possibly damaging |
Het |
| Gna11 |
A |
G |
10: 81,367,208 (GRCm39) |
F228S |
|
Het |
| Golgb1 |
A |
T |
16: 36,736,155 (GRCm39) |
M1842L |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,491,469 (GRCm39) |
M327K |
probably damaging |
Het |
| H4c9 |
A |
G |
13: 22,225,414 (GRCm39) |
I27T |
probably damaging |
Het |
| Hexa |
T |
A |
9: 59,470,582 (GRCm39) |
L468Q |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,526,491 (GRCm39) |
V178I |
probably benign |
Het |
| Kbtbd13 |
T |
C |
9: 65,298,757 (GRCm39) |
T60A |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,496,649 (GRCm39) |
T194A |
probably damaging |
Het |
| Krtap16-3 |
C |
A |
16: 88,759,666 (GRCm39) |
G16C |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,014,757 (GRCm39) |
S639P |
probably benign |
Het |
| Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,023,071 (GRCm39) |
T86A |
probably damaging |
Het |
| Mecom |
G |
T |
3: 30,041,220 (GRCm39) |
H125N |
probably benign |
Het |
| Med18 |
T |
C |
4: 132,187,247 (GRCm39) |
H84R |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,439 (GRCm39) |
Y798C |
|
Het |
| Mycbp |
T |
C |
4: 123,799,060 (GRCm39) |
Y17H |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,551,272 (GRCm39) |
V640M |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,320,794 (GRCm39) |
V1092I |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,715,642 (GRCm39) |
E696G |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,794,444 (GRCm39) |
C741Y |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,978 (GRCm39) |
N291D |
probably damaging |
Het |
| Or6d12 |
C |
T |
6: 116,493,697 (GRCm39) |
Q320* |
probably null |
Het |
| Osbpl10 |
C |
A |
9: 115,036,692 (GRCm39) |
H229Q |
probably damaging |
Het |
| Pif1 |
A |
T |
9: 65,496,993 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
G |
13: 110,533,122 (GRCm39) |
|
probably null |
Het |
| Ppp1r42 |
T |
C |
1: 10,065,408 (GRCm39) |
H172R |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,240,688 (GRCm39) |
I363T |
possibly damaging |
Het |
| Rnf168 |
T |
G |
16: 32,117,863 (GRCm39) |
Y475D |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,496,109 (GRCm39) |
N51S |
probably damaging |
Het |
| Setx |
C |
A |
2: 29,036,505 (GRCm39) |
Q997K |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,425,162 (GRCm39) |
Q1088P |
unknown |
Het |
| Slc22a27 |
T |
C |
19: 7,843,119 (GRCm39) |
D528G |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,140,514 (GRCm39) |
K173* |
probably null |
Het |
| Smc2 |
T |
C |
4: 52,457,379 (GRCm39) |
F380L |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,849,798 (GRCm39) |
M777V |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,837,307 (GRCm39) |
N319I |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,799,857 (GRCm39) |
V93A |
|
Het |
| Tbx20 |
T |
C |
9: 24,661,573 (GRCm39) |
|
probably null |
Het |
| Trbv20 |
G |
A |
6: 41,165,715 (GRCm39) |
V47I |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,782,155 (GRCm39) |
C192* |
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,656,691 (GRCm39) |
I103F |
unknown |
Het |
| Tulp2 |
A |
G |
7: 45,168,005 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
A |
1: 188,689,690 (GRCm39) |
P5084Q |
probably benign |
Het |
| Virma |
T |
C |
4: 11,518,927 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,093 (GRCm39) |
N369K |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,233 (GRCm39) |
M393K |
probably damaging |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
| Xpot |
A |
G |
10: 121,449,411 (GRCm39) |
S30P |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,364,597 (GRCm39) |
Y359C |
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 |
|
|
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'- ACAAGCATGGCTAGGTTGTGG -3'
(R):5'- TTACAGGCTGTCTAAGAGTGAAGG -3'
Sequencing Primer
(F):5'- GGCTGTAGGCTGCATCTGAC -3'
(R):5'- TCTAAGAGTGAAGGTGTTTGAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation