Incidental Mutation 'R7497:Sbf2'
| ID |
581133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
045570-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R7497 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 110213923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 16
(E16*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033058
AA Change: E16*
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: E16*
| 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 null
Transcript: ENSMUST00000164759
AA Change: E16*
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: E16*
| 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 null
Transcript: ENSMUST00000166020
AA Change: E16*
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: E16*
| 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 null
Transcript: ENSMUST00000167652
AA Change: E16*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171218
AA Change: E16*
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: E16*
| 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 |
0.9664 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,075,379 (GRCm39) |
I145F |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,262,352 (GRCm39) |
V455E |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,834 (GRCm39) |
V977A |
probably damaging |
Het |
| Aph1b |
A |
C |
9: 66,701,401 (GRCm39) |
S79A |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,423,191 (GRCm39) |
S645L |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,400,456 (GRCm39) |
R171G |
probably benign |
Het |
| Ces2f |
T |
A |
8: 105,681,330 (GRCm39) |
D556E |
probably benign |
Het |
| Cfap210 |
A |
C |
2: 69,588,792 (GRCm39) |
N439K |
probably benign |
Het |
| Cyp26b1 |
C |
A |
6: 84,553,964 (GRCm39) |
V218L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 38,028,353 (GRCm39) |
|
probably null |
Het |
| Dock1 |
A |
G |
7: 134,367,003 (GRCm39) |
I482V |
probably benign |
Het |
| Dok4 |
A |
T |
8: 95,594,053 (GRCm39) |
D47E |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,028 (GRCm39) |
L120Q |
probably damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,558 (GRCm39) |
V157E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,653,516 (GRCm39) |
|
probably null |
Het |
| Eif2a |
C |
A |
3: 58,456,102 (GRCm39) |
P367Q |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,744,985 (GRCm39) |
R102C |
probably damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,666 (GRCm39) |
S347P |
probably damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,717,467 (GRCm39) |
D148V |
probably damaging |
Het |
| Gadl1 |
A |
T |
9: 115,903,155 (GRCm39) |
I495L |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,468 (GRCm39) |
T255A |
possibly damaging |
Het |
| Gm10972 |
A |
G |
3: 94,550,887 (GRCm39) |
K21E |
unknown |
Het |
| Gm57859 |
T |
A |
11: 113,583,223 (GRCm39) |
W517R |
probably damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,829 (GRCm39) |
C44Y |
probably damaging |
Het |
| Hcar2 |
C |
T |
5: 124,003,249 (GRCm39) |
V85I |
probably benign |
Het |
| Hira |
T |
C |
16: 18,770,829 (GRCm39) |
V822A |
probably damaging |
Het |
| Ighv1-5 |
T |
A |
12: 114,477,156 (GRCm39) |
T49S |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,754,731 (GRCm39) |
V603M |
probably damaging |
Het |
| Kdm2a |
A |
C |
19: 4,374,404 (GRCm39) |
L909R |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,747,827 (GRCm39) |
|
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,349 (GRCm39) |
H168R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,340 (GRCm39) |
E386D |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,556,385 (GRCm39) |
E3303K |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,415,250 (GRCm39) |
V2732G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,104,983 (GRCm39) |
L189P |
|
Het |
| Nlrc5 |
T |
C |
8: 95,248,598 (GRCm39) |
L1740S |
probably damaging |
Het |
| Nolc1 |
A |
G |
19: 46,071,257 (GRCm39) |
K402R |
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,112,098 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,952 (GRCm39) |
L306Q |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,012,417 (GRCm39) |
I13V |
probably benign |
Het |
| Pnma8b |
A |
G |
7: 16,678,874 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,080,860 (GRCm39) |
M35L |
probably benign |
Het |
| Postn |
A |
G |
3: 54,270,091 (GRCm39) |
K57E |
probably damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,905,775 (GRCm39) |
D110A |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,422,942 (GRCm39) |
V71M |
possibly damaging |
Het |
| Prdm11 |
T |
A |
2: 92,843,052 (GRCm39) |
I136F |
possibly damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,841 (GRCm39) |
L613P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,560,818 (GRCm39) |
D2981G |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,168,651 (GRCm39) |
E322G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,481,700 (GRCm39) |
C893S |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,249,139 (GRCm39) |
D323G |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 82,991,649 (GRCm39) |
Y453C |
probably damaging |
Het |
| Snx5 |
T |
C |
2: 144,099,894 (GRCm39) |
K137E |
probably damaging |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Taok2 |
G |
A |
7: 126,474,050 (GRCm39) |
T352I |
probably damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,541 (GRCm39) |
R489S |
possibly damaging |
Het |
| Usp12 |
A |
T |
5: 146,689,264 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
A |
16: 87,263,174 (GRCm39) |
C125* |
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,201 (GRCm39) |
E733K |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,876,843 (GRCm39) |
I2832K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,747,761 (GRCm39) |
Y18C |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,246,455 (GRCm39) |
I335K |
probably benign |
Het |
| Zfp788 |
A |
T |
7: 41,298,275 (GRCm39) |
I304F |
possibly 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 |
|
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 |
|
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'- TATCCCTAGGAGCCTCGTAC -3'
(R):5'- TTGTCAAACATGGCTGAAGCG -3'
Sequencing Primer
(F):5'- CTAGGAGCCTCGTACAGTGTG -3'
(R):5'- TGAAGCGCCGCTGCTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation