Incidental Mutation 'R1558:Sbf2'
| ID |
170418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
039597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R1558 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110027553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 481
(T481K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: T481K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: T481K
| 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 |
noncoding transcript
Transcript: ENSMUST00000163579
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164559
AA Change: T88K
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: T88K
| Domain | Start | End | E-Value | Type |
|---|
|
dDENN
|
2 |
74 |
3.04e-2 |
SMART |
|
Pfam:SBF2
|
138 |
177 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164759
AA Change: T481K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: T481K
| 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 |
noncoding transcript
Transcript: ENSMUST00000165449
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166020
AA Change: T435K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: T435K
| 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: ENSMUST00000167880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171378
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
| Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
| Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
| Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
| Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
| Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
| Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
| Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,077,452 (GRCm39) |
Y653N |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
| Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
| Fastk |
A |
T |
5: 24,649,045 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
| Fpgs |
T |
C |
2: 32,575,852 (GRCm39) |
T364A |
possibly damaging |
Het |
| Gm12185 |
A |
G |
11: 48,806,262 (GRCm39) |
S310P |
probably damaging |
Het |
| Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
| Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
| Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,379,127 (GRCm39) |
I195T |
probably damaging |
Het |
| Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
| Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
| Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
| Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
unknown |
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 |
|
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 |
PCR Primer
(F):5'- CAACGGGTGGACCTGCTGG -3'
(R):5'- GACAACCAACTGTCTGAGATACTGCTG -3'
Sequencing Primer
(F):5'- gctggcactacacatttcttttc -3'
(R):5'- CTTGGAGAAAGAACCTGGTATTCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation