Incidental Mutation 'R9709:Sbf2'
| ID |
729975 |
| 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 # |
R9709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110027514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 494
(P494Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: P494Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: P494Q
| 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: P101Q
| 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: P494Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: P494Q
| 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: P448Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: P448Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,530,356 (GRCm39) |
S25P |
unknown |
Het |
| 4921539E11Rik |
A |
G |
4: 103,092,678 (GRCm39) |
I268T |
unknown |
Het |
| 4930507D05Rik |
T |
A |
10: 62,285,581 (GRCm39) |
C102S |
unknown |
Het |
| Abca14 |
T |
A |
7: 119,888,739 (GRCm39) |
Y1228* |
probably null |
Het |
| Abca17 |
T |
C |
17: 24,517,934 (GRCm39) |
I792V |
probably benign |
Het |
| Abca6 |
C |
A |
11: 110,102,589 (GRCm39) |
L878F |
probably benign |
Het |
| Adk |
C |
A |
14: 21,126,386 (GRCm39) |
T4N |
probably benign |
Het |
| Ankrd40cl |
G |
A |
11: 94,175,560 (GRCm39) |
S65N |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,611,140 (GRCm39) |
F1264I |
probably damaging |
Het |
| Atl3 |
T |
G |
19: 7,507,921 (GRCm39) |
S358A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,271,187 (GRCm39) |
Y248F |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,474,749 (GRCm39) |
V785A |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,860,201 (GRCm39) |
|
probably null |
Het |
| Cdc42se2 |
A |
G |
11: 54,614,417 (GRCm39) |
F47L |
probably benign |
Het |
| Cfap58 |
T |
C |
19: 47,963,992 (GRCm39) |
L540P |
probably damaging |
Het |
| Copg1 |
A |
G |
6: 87,868,957 (GRCm39) |
E117G |
probably benign |
Het |
| Cstpp1 |
T |
C |
2: 91,112,099 (GRCm39) |
Q250R |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,431,560 (GRCm39) |
T655M |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,412,429 (GRCm39) |
Q161R |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,059,121 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,591,198 (GRCm39) |
Q249R |
probably benign |
Het |
| Dnmt3a |
T |
A |
12: 3,957,701 (GRCm39) |
I894N |
probably damaging |
Het |
| Fshr |
G |
A |
17: 89,293,265 (GRCm39) |
T471I |
probably damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,500,488 (GRCm39) |
V4I |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,542 (GRCm39) |
Q348R |
probably damaging |
Het |
| Gm21149 |
G |
A |
5: 15,677,110 (GRCm39) |
S248F |
unknown |
Het |
| Gpr152 |
C |
A |
19: 4,192,640 (GRCm39) |
H60Q |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,362,602 (GRCm39) |
S612P |
probably benign |
Het |
| Hhipl2 |
A |
G |
1: 183,199,747 (GRCm39) |
D102G |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,294 (GRCm39) |
V530A |
possibly damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,549,384 (GRCm39) |
N173S |
unknown |
Het |
| Ighv1-75 |
A |
G |
12: 115,797,791 (GRCm39) |
S44P |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,735,500 (GRCm39) |
G523W |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,637,587 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
T |
C |
1: 15,780,523 (GRCm39) |
I465T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,228 (GRCm39) |
V1478A |
probably damaging |
Het |
| Ky |
A |
T |
9: 102,419,411 (GRCm39) |
I473F |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,666,034 (GRCm39) |
V25A |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,657,135 (GRCm39) |
T751A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 80,786,154 (GRCm39) |
E587G |
probably damaging |
Het |
| Lvrn |
A |
C |
18: 47,006,847 (GRCm39) |
|
probably null |
Het |
| Mast2 |
A |
T |
4: 116,173,044 (GRCm39) |
C594S |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,910,711 (GRCm39) |
V644A |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,842,604 (GRCm39) |
Y293H |
probably damaging |
Het |
| Mthfd2 |
A |
T |
6: 83,283,665 (GRCm39) |
V339E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,590,644 (GRCm39) |
I881F |
|
Het |
| Myo7a |
A |
G |
7: 97,743,536 (GRCm39) |
S372P |
possibly damaging |
Het |
| Nbea |
T |
A |
3: 55,693,879 (GRCm39) |
K2180* |
probably null |
Het |
| Neb |
T |
C |
2: 52,101,507 (GRCm39) |
D4621G |
probably damaging |
Het |
| Nefh |
C |
T |
11: 4,890,042 (GRCm39) |
S859N |
probably benign |
Het |
| Nek2 |
T |
A |
1: 191,563,289 (GRCm39) |
H384Q |
possibly damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,782 (GRCm39) |
E645G |
probably benign |
Het |
| Nin |
G |
T |
12: 70,149,468 (GRCm39) |
P47Q |
|
Het |
| Nit1 |
C |
A |
1: 171,171,307 (GRCm39) |
K178N |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,317,452 (GRCm39) |
K1433N |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,317,453 (GRCm39) |
K1433R |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,457,463 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Or2a14 |
G |
T |
6: 43,130,469 (GRCm39) |
V77F |
possibly damaging |
Het |
| Pde1b |
A |
G |
15: 103,411,985 (GRCm39) |
K29E |
probably benign |
Het |
| Pheta2 |
G |
T |
15: 82,227,537 (GRCm39) |
D19Y |
probably damaging |
Het |
| Pheta2 |
C |
G |
15: 82,227,535 (GRCm39) |
A18G |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,687 (GRCm39) |
Y1067N |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,799,016 (GRCm39) |
G2249S |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,121,976 (GRCm39) |
T201S |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,678 (GRCm39) |
T3A |
probably benign |
Het |
| Polr1has |
A |
T |
17: 37,275,249 (GRCm39) |
R7S |
probably benign |
Het |
| Pou6f2 |
G |
T |
13: 18,414,389 (GRCm39) |
Q129K |
unknown |
Het |
| Ppil4 |
T |
A |
10: 7,675,341 (GRCm39) |
D163E |
probably benign |
Het |
| Pradc1 |
A |
G |
6: 85,424,952 (GRCm39) |
F82L |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,194,414 (GRCm39) |
K784R |
probably null |
Het |
| Ptgs1 |
C |
A |
2: 36,141,204 (GRCm39) |
S550R |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,711,030 (GRCm39) |
L153P |
probably damaging |
Het |
| Rgs10 |
A |
C |
7: 127,975,729 (GRCm39) |
F146C |
probably damaging |
Het |
| Rimbp2 |
G |
A |
5: 128,874,875 (GRCm39) |
P239S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,255 (GRCm39) |
Y1199H |
unknown |
Het |
| Rrp12 |
A |
T |
19: 41,857,231 (GRCm39) |
M1181K |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,982 (GRCm39) |
N279S |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,509,693 (GRCm39) |
T281A |
probably benign |
Het |
| Scube2 |
A |
T |
7: 109,430,971 (GRCm39) |
N409K |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,359,008 (GRCm39) |
D340A |
probably damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,038,574 (GRCm39) |
T443I |
possibly damaging |
Het |
| Sis |
T |
A |
3: 72,799,074 (GRCm39) |
Y1726F |
possibly damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,374,321 (GRCm39) |
L129P |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,729 (GRCm39) |
F342I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
T |
C |
7: 73,952,957 (GRCm39) |
E534G |
possibly damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,052 (GRCm39) |
I71F |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,809 (GRCm39) |
H18L |
probably damaging |
Het |
| Tmem151a |
A |
T |
19: 5,131,876 (GRCm39) |
Y443* |
probably null |
Het |
| Tnks1bp1 |
T |
G |
2: 84,902,125 (GRCm39) |
S1674A |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,946,348 (GRCm39) |
I1095F |
probably damaging |
Het |
| Trim11 |
A |
G |
11: 58,872,864 (GRCm39) |
R183G |
possibly damaging |
Het |
| Trim29 |
A |
G |
9: 43,231,797 (GRCm39) |
D348G |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,433,637 (GRCm39) |
S2224C |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,915 (GRCm39) |
V1537M |
|
Het |
| Zfp1005 |
T |
A |
2: 150,110,305 (GRCm39) |
C332S |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,665 (GRCm39) |
D457G |
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 |
|
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 |
|
RF005:Sbf2
|
UTSW |
7 |
109,916,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTTGTATTTCATTAGGACACACAG -3'
(R):5'- ACACCTGTTTGATTTTAGTGTGTCC -3'
Sequencing Primer
(F):5'- CTAGGTAGCTCAGTCTGGCCTAAAG -3'
(R):5'- GATTTTAGTGTGTCCCTCTGTGCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation