Incidental Mutation 'R9653:Sbf2'
| ID |
727188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R9653 (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 C
at 110040702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 375
(Q375R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: Q375R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: Q375R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: Q25R
| 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: Q375R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: Q375R
| 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: Q329R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: Q329R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: Q191R
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171218
AA Change: Q375R
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: Q375R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,243,741 (GRCm39) |
P1868L |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,214,257 (GRCm39) |
Y191H |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,180,763 (GRCm39) |
G100R |
probably damaging |
Het |
| Adgrg5 |
C |
T |
8: 95,663,864 (GRCm39) |
P235S |
|
Het |
| Anks1b |
T |
G |
10: 90,346,524 (GRCm39) |
L608R |
probably damaging |
Het |
| Ano10 |
C |
G |
9: 122,080,221 (GRCm39) |
A597P |
possibly damaging |
Het |
| Calb2 |
T |
C |
8: 110,881,374 (GRCm39) |
M58V |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,495 (GRCm39) |
I1092T |
probably damaging |
Het |
| Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
| Chmp2a |
A |
T |
7: 12,766,456 (GRCm39) |
F129I |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,670,993 (GRCm39) |
W365R |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,584,556 (GRCm39) |
K1344R |
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,360,728 (GRCm39) |
I53V |
unknown |
Het |
| Coro2b |
T |
C |
9: 62,335,259 (GRCm39) |
Y309C |
probably damaging |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Crygs |
T |
A |
16: 22,625,304 (GRCm39) |
T46S |
probably benign |
Het |
| Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,128,551 (GRCm39) |
D209G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,252,544 (GRCm39) |
V1742A |
possibly damaging |
Het |
| Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,643,466 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
A |
T |
7: 4,481,886 (GRCm39) |
K704M |
unknown |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fgd4 |
T |
A |
16: 16,254,461 (GRCm39) |
H524L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,731,273 (GRCm39) |
F103I |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,110,822 (GRCm39) |
M1001T |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,582 (GRCm39) |
S205G |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 63,907,968 (GRCm39) |
N203Y |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,782,641 (GRCm39) |
A308V |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
| Igfn1 |
G |
A |
1: 135,883,323 (GRCm39) |
Q2728* |
probably null |
Het |
| Ighv5-16 |
C |
A |
12: 113,802,313 (GRCm39) |
K62N |
possibly damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,367,588 (GRCm39) |
Y203N |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
| Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,484,864 (GRCm39) |
V321M |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,507,819 (GRCm39) |
L3206P |
probably damaging |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,908 (GRCm39) |
C193R |
unknown |
Het |
| Large1 |
G |
T |
8: 73,564,106 (GRCm39) |
H553Q |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
| Lypd6 |
A |
T |
2: 50,080,758 (GRCm39) |
T149S |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,296 (GRCm39) |
N1301S |
possibly damaging |
Het |
| Ndufv2 |
C |
T |
17: 66,396,251 (GRCm39) |
W91* |
probably null |
Het |
| Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,190,146 (GRCm39) |
I467V |
probably benign |
Het |
| Nucb1 |
A |
G |
7: 45,144,202 (GRCm39) |
M337T |
probably benign |
Het |
| Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
| Or10d4b |
T |
C |
9: 39,535,154 (GRCm39) |
L243P |
probably damaging |
Het |
| Or4f14c |
A |
T |
2: 111,941,261 (GRCm39) |
M112K |
probably damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,662,036 (GRCm39) |
|
probably null |
Het |
| Pam |
C |
T |
1: 97,768,469 (GRCm39) |
V660M |
possibly damaging |
Het |
| Phc2 |
C |
T |
4: 128,641,012 (GRCm39) |
L700F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,479,494 (GRCm39) |
V4A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,142 (GRCm39) |
E1402G |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,788,032 (GRCm39) |
A429V |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,010 (GRCm39) |
N101S |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
| Rsl1 |
T |
A |
13: 67,330,106 (GRCm39) |
Y185N |
probably damaging |
Het |
| Rsph3a |
T |
C |
17: 8,165,074 (GRCm39) |
S145P |
possibly damaging |
Het |
| Sall1 |
T |
C |
8: 89,757,506 (GRCm39) |
E866G |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,228 (GRCm39) |
S567T |
probably benign |
Het |
| Sap30 |
G |
A |
8: 57,938,156 (GRCm39) |
Q154* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,937,947 (GRCm39) |
E1772G |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,375,772 (GRCm39) |
A169V |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,525 (GRCm39) |
S940P |
probably benign |
Het |
| Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
| Shisal2b |
A |
G |
13: 105,000,296 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,134,514 (GRCm39) |
T82A |
possibly damaging |
Het |
| Slc39a14 |
G |
T |
14: 70,547,248 (GRCm39) |
T366K |
probably damaging |
Het |
| Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,433,749 (GRCm39) |
T501S |
unknown |
Het |
| Srsf12 |
T |
C |
4: 33,231,249 (GRCm39) |
S253P |
possibly damaging |
Het |
| Sycp2l |
A |
G |
13: 41,295,381 (GRCm39) |
S315G |
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,655,379 (GRCm39) |
Y337C |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,898,022 (GRCm39) |
D599G |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,506,005 (GRCm39) |
V204E |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,204,564 (GRCm39) |
M261K |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,497,123 (GRCm39) |
I2429F |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,539,189 (GRCm39) |
A1943T |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,261,694 (GRCm39) |
D214E |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,340,213 (GRCm39) |
P183T |
|
Het |
| Zfp28 |
G |
A |
7: 6,395,623 (GRCm39) |
R134H |
|
Het |
| Zfp532 |
T |
A |
18: 65,756,308 (GRCm39) |
D80E |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,418 (GRCm39) |
D200G |
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 |
|
|
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 |
|
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'- TATTTCTCCCAAAAGGACAAGGG -3'
(R):5'- TATGCCTGTTGCCTGGGAAG -3'
Sequencing Primer
(F):5'- TCTGAAGGAAAATATTACACCAACTC -3'
(R):5'- CTGTTGCCTGGGAAGACGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation