Incidental Mutation 'R3978:Sbf2'
| ID |
311125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
040941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R3978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109929092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1438
(T1438K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033058
AA Change: T1463K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: T1463K
| 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: ENSMUST00000164599
|
| SMART Domains |
Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
339 |
1.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164759
AA Change: T1438K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: T1438K
| 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: ENSMUST00000165992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166020
AA Change: T1417K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: T1417K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,435 (GRCm39) |
T61A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,237,554 (GRCm39) |
V743I |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,261,503 (GRCm39) |
D453G |
probably damaging |
Het |
| Atp2b1 |
C |
A |
10: 98,832,795 (GRCm39) |
|
probably null |
Het |
| Azin1 |
A |
T |
15: 38,498,957 (GRCm39) |
N135K |
probably damaging |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,798,274 (GRCm39) |
T1662A |
probably benign |
Het |
| Cog8 |
T |
A |
8: 107,779,669 (GRCm39) |
I203F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,078 (GRCm39) |
H2094R |
probably damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,690,737 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,486,129 (GRCm39) |
E276G |
probably damaging |
Het |
| Fam171a1 |
A |
C |
2: 3,226,072 (GRCm39) |
M402L |
probably benign |
Het |
| Fga |
A |
T |
3: 82,937,490 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,197,207 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
C |
T |
3: 142,335,747 (GRCm39) |
T149I |
possibly damaging |
Het |
| Gm9631 |
A |
G |
11: 121,834,394 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,407,862 (GRCm39) |
T136I |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,583,354 (GRCm39) |
V172M |
probably damaging |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,349,073 (GRCm39) |
I535V |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,530 (GRCm39) |
V949A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il27ra |
G |
A |
8: 84,767,313 (GRCm39) |
T170I |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,623 (GRCm39) |
Y456H |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,357 (GRCm39) |
I298N |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,808,753 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or5p61 |
A |
G |
7: 107,758,819 (GRCm39) |
M87T |
possibly damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,206,757 (GRCm39) |
H661L |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,242,253 (GRCm39) |
I13T |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,909 (GRCm39) |
M757T |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,522,393 (GRCm39) |
T296A |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,154,136 (GRCm39) |
R472H |
probably benign |
Het |
| Rhcg |
T |
C |
7: 79,267,147 (GRCm39) |
E43G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,759 (GRCm39) |
|
probably null |
Het |
| Rorb |
A |
G |
19: 18,915,254 (GRCm39) |
V468A |
probably benign |
Het |
| Rxrb |
C |
T |
17: 34,255,300 (GRCm39) |
P209L |
possibly damaging |
Het |
| Setd3 |
A |
T |
12: 108,124,201 (GRCm39) |
C163S |
possibly damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,239 (GRCm39) |
D110N |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,515,859 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,039 (GRCm39) |
V305A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,732,033 (GRCm39) |
M621L |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,546 (GRCm39) |
D301V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Syt15 |
T |
A |
14: 33,945,061 (GRCm39) |
C203S |
probably benign |
Het |
| Tdrd1 |
A |
G |
19: 56,855,066 (GRCm39) |
R1171G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,210 (GRCm39) |
V30A |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,785,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,881,670 (GRCm39) |
Y470F |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
Het |
| Wee1 |
G |
T |
7: 109,723,762 (GRCm39) |
D226Y |
probably damaging |
Het |
| Yap1 |
C |
T |
9: 8,004,285 (GRCm39) |
G36D |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,348 (GRCm39) |
I951T |
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 |
|
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'- CTATGACTGAGCTGTGGCAG -3'
(R):5'- ATTGGCCATCCTGAAGCAG -3'
Sequencing Primer
(F):5'- TGTGGCAGCAGGTATCCAG -3'
(R):5'- GCAGCTAGTCAGAATATTTGCCCG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation