Incidental Mutation 'R4792:Sbf2'
| ID |
368677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
042419-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R4792 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109950817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1164
(Q1164R)
|
| 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: Q1210R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: Q1210R
| 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: Q147R
|
| SMART Domains |
Protein: ENSMUSP00000128340
Gene: ENSMUSG00000038371
AA Change: Q147R
| 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 |
unknown
Transcript: ENSMUST00000164599
AA Change: Q95R
|
| SMART Domains |
Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
AA Change: Q95R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164759
AA Change: Q1210R
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: Q1210R
| 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: Q1164R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: Q1164R
| 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 |
noncoding transcript
Transcript: ENSMUST00000169740
|
| Meta Mutation Damage Score |
0.1619 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
97% (89/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
A |
G |
16: 88,504,651 (GRCm39) |
S49P |
possibly damaging |
Het |
| Abcb1a |
T |
C |
5: 8,796,657 (GRCm39) |
|
probably null |
Het |
| Adgb |
G |
A |
10: 10,274,647 (GRCm39) |
T770I |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,098,491 (GRCm39) |
T134S |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,597,349 (GRCm39) |
N110S |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,437,964 (GRCm39) |
V8L |
possibly damaging |
Het |
| Ambra1 |
A |
G |
2: 91,603,191 (GRCm39) |
T392A |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,051 (GRCm39) |
I2145V |
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,625,717 (GRCm39) |
Y196H |
possibly damaging |
Het |
| Armh2 |
A |
G |
13: 24,930,490 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,251,173 (GRCm39) |
L439S |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,325,659 (GRCm39) |
S224T |
possibly damaging |
Het |
| Cfh |
G |
A |
1: 140,028,561 (GRCm39) |
Q706* |
probably null |
Het |
| Chd2 |
A |
C |
7: 73,118,325 (GRCm39) |
S1098A |
probably benign |
Het |
| Chrna5 |
A |
T |
9: 54,911,985 (GRCm39) |
I158F |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,060,975 (GRCm39) |
D207G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,807,983 (GRCm39) |
T1022A |
unknown |
Het |
| Cul7 |
T |
A |
17: 46,967,976 (GRCm39) |
Y423* |
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,588 (GRCm39) |
Y342H |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,275 (GRCm39) |
K1580E |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,066,651 (GRCm39) |
M2573T |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,929,881 (GRCm39) |
K370R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,805,707 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
C |
T |
5: 121,585,237 (GRCm39) |
E86K |
probably benign |
Het |
| Esrp2 |
C |
A |
8: 106,859,141 (GRCm39) |
R535L |
probably damaging |
Het |
| Gabrb2 |
C |
T |
11: 42,420,330 (GRCm39) |
|
probably benign |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,403,266 (GRCm39) |
V4395E |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmgb2 |
G |
A |
8: 57,966,344 (GRCm39) |
C106Y |
probably damaging |
Het |
| Hoxa10 |
T |
C |
6: 52,209,481 (GRCm39) |
|
probably benign |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,226 (GRCm39) |
Y255F |
probably benign |
Het |
| Ighd |
T |
C |
12: 113,379,819 (GRCm39) |
K42E |
probably benign |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,191 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Ighv5-2 |
C |
T |
12: 113,542,419 (GRCm39) |
E19K |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,668 (GRCm39) |
|
probably benign |
Het |
| Itk |
C |
T |
11: 46,235,658 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,430,592 (GRCm39) |
H1982Q |
unknown |
Het |
| Kdm4d |
C |
T |
9: 14,374,686 (GRCm39) |
V391I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 134,949,544 (GRCm39) |
S229C |
probably benign |
Het |
| Lhx9 |
T |
A |
1: 138,766,089 (GRCm39) |
Y233F |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mapk4 |
T |
C |
18: 74,070,321 (GRCm39) |
T191A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naglu |
C |
T |
11: 100,961,932 (GRCm39) |
T135M |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,693,643 (GRCm39) |
|
probably null |
Het |
| Nop56 |
T |
A |
2: 130,119,784 (GRCm39) |
V75E |
possibly damaging |
Het |
| Nr1i3 |
G |
A |
1: 171,046,164 (GRCm39) |
C283Y |
probably damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,174 (GRCm39) |
Y256F |
possibly damaging |
Het |
| Or51d1 |
G |
A |
7: 102,347,933 (GRCm39) |
G163R |
probably damaging |
Het |
| Or6c38 |
T |
G |
10: 128,929,489 (GRCm39) |
Y118S |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,452 (GRCm39) |
S99G |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,965,925 (GRCm39) |
D697E |
probably damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,939,716 (GRCm39) |
D1462N |
probably damaging |
Het |
| Pnn |
G |
T |
12: 59,118,991 (GRCm39) |
V525F |
possibly damaging |
Het |
| Prrc2a |
A |
T |
17: 35,375,463 (GRCm39) |
D1062E |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,722 (GRCm39) |
V164E |
probably damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,547 (GRCm39) |
S380P |
probably benign |
Het |
| Rnf222 |
A |
T |
11: 68,783,845 (GRCm39) |
E137D |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,874,135 (GRCm39) |
T79A |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,556,592 (GRCm39) |
D331G |
probably damaging |
Het |
| Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,438,519 (GRCm39) |
S1529N |
probably benign |
Het |
| St8sia3 |
T |
A |
18: 64,398,634 (GRCm39) |
V31E |
probably benign |
Het |
| Sult1b1 |
A |
T |
5: 87,662,906 (GRCm39) |
W265R |
probably damaging |
Het |
| Supt5 |
G |
T |
7: 28,015,754 (GRCm39) |
Q863K |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,804,124 (GRCm39) |
R380G |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,845 (GRCm39) |
D313V |
possibly damaging |
Het |
| Tmem260 |
CAGGGACCGGCATAG |
CAG |
14: 48,749,451 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
A |
T |
2: 152,727,016 (GRCm39) |
T428S |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,851,705 (GRCm39) |
H786Q |
probably benign |
Het |
| Trpc6 |
A |
T |
9: 8,626,615 (GRCm39) |
M322L |
probably benign |
Het |
| Try10 |
T |
C |
6: 41,332,386 (GRCm39) |
V14A |
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,961,108 (GRCm39) |
F416L |
probably damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,812,378 (GRCm39) |
M547K |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,051,006 (GRCm39) |
F288S |
probably damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,568,436 (GRCm39) |
Q71L |
probably damaging |
Het |
| Zfp40 |
G |
A |
17: 23,396,008 (GRCm39) |
T193I |
possibly damaging |
Het |
| Zfp607a |
T |
C |
7: 27,578,078 (GRCm39) |
Y383H |
probably benign |
Het |
| Zfp622 |
T |
A |
15: 25,987,128 (GRCm39) |
Y82* |
probably null |
Het |
| Zfp964 |
T |
C |
8: 70,116,665 (GRCm39) |
F422L |
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 |
|
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 |
PCR Primer
(F):5'- TGGAGCCCAGGTTTTAGTCC -3'
(R):5'- GCCATTCCTAAAGCTATCCTGG -3'
Sequencing Primer
(F):5'- AATTCTGGGAAGACTGTCTCTC -3'
(R):5'- GGCCTTTTAGTCATACCTCAAGCTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation