Incidental Mutation 'R9310:Sbf2'
| ID |
705472 |
| 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 # |
R9310 (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 109914292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1630
(E1630G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: E1630G
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: E1630G
| 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 |
possibly damaging
Transcript: ENSMUST00000164759
AA Change: E1605G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: E1605G
| 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: E1584G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: E1584G
| 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: 99.6%
- 20x: 98.7%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,859 (GRCm39) |
I83V |
possibly damaging |
Het |
| Abcf1 |
G |
A |
17: 36,272,621 (GRCm39) |
A288V |
probably null |
Het |
| Acer1 |
A |
T |
17: 57,262,598 (GRCm39) |
V184D |
probably damaging |
Het |
| Apoh |
T |
C |
11: 108,298,307 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,413,625 (GRCm39) |
Y959C |
unknown |
Het |
| Asb3 |
A |
T |
11: 30,978,962 (GRCm39) |
H84L |
probably benign |
Het |
| Atxn1 |
A |
C |
13: 45,721,494 (GRCm39) |
Y134D |
probably damaging |
Het |
| Btbd1 |
T |
C |
7: 81,478,985 (GRCm39) |
Y52C |
probably damaging |
Het |
| Cabp2 |
A |
G |
19: 4,136,464 (GRCm39) |
D170G |
probably damaging |
Het |
| Cacna1a |
C |
A |
8: 85,263,046 (GRCm39) |
A407E |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,248,914 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
T |
C |
5: 43,852,488 (GRCm39) |
F404S |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,061 (GRCm39) |
M281T |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,798,177 (GRCm39) |
M1694K |
unknown |
Het |
| Chd6 |
G |
T |
2: 160,881,181 (GRCm39) |
T261K |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,956,330 (GRCm39) |
S585G |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,978,281 (GRCm39) |
Y312F |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,510 (GRCm39) |
Y146* |
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,175,414 (GRCm39) |
K145E |
unknown |
Het |
| Coq8b |
T |
A |
7: 26,941,486 (GRCm39) |
I221N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,705,607 (GRCm39) |
L375* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,579 (GRCm39) |
F4214S |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,802,895 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,244,139 (GRCm39) |
F1067S |
possibly damaging |
Het |
| Dpp6 |
G |
A |
5: 27,836,439 (GRCm39) |
A310T |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,930,642 (GRCm39) |
L825I |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,004,531 (GRCm39) |
V929A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,205,285 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
G |
1: 163,792,089 (GRCm39) |
C610R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,460,281 (GRCm39) |
R402G |
probably benign |
Het |
| Grid1 |
T |
C |
14: 34,748,762 (GRCm39) |
L194S |
probably damaging |
Het |
| Heatr1 |
A |
T |
13: 12,453,491 (GRCm39) |
H2122L |
probably benign |
Het |
| Il17b |
T |
A |
18: 61,825,334 (GRCm39) |
C123* |
probably null |
Het |
| Il17rc |
T |
C |
6: 113,451,210 (GRCm39) |
L181P |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,287,940 (GRCm39) |
I619L |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,741,432 (GRCm39) |
Y814* |
probably null |
Het |
| Marcks |
C |
T |
10: 37,012,487 (GRCm39) |
E183K |
unknown |
Het |
| Mefv |
T |
C |
16: 3,533,252 (GRCm39) |
T340A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,950,920 (GRCm39) |
K958R |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,218,954 (GRCm39) |
D533E |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,553,834 (GRCm39) |
L811Q |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,145,570 (GRCm39) |
Y1351C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,153,708 (GRCm39) |
M2406V |
probably benign |
Het |
| Nebl |
T |
C |
2: 17,353,678 (GRCm39) |
T214A |
probably benign |
Het |
| Nlrx1 |
A |
T |
9: 44,164,705 (GRCm39) |
I913N |
probably damaging |
Het |
| Npr2 |
G |
T |
4: 43,632,404 (GRCm39) |
A74S |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,257 (GRCm39) |
S5C |
probably damaging |
Het |
| Or6b6 |
C |
A |
7: 106,570,678 (GRCm39) |
C291F |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,687 (GRCm39) |
N54K |
probably benign |
Het |
| Pard3b |
G |
T |
1: 62,205,528 (GRCm39) |
V441F |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,238,191 (GRCm39) |
R4K |
probably benign |
Het |
| Pisd |
G |
T |
5: 32,894,784 (GRCm39) |
N337K |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,156,945 (GRCm39) |
K10R |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,083,664 (GRCm39) |
W132R |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,374,975 (GRCm39) |
M1225K |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,142 (GRCm39) |
D309G |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,051 (GRCm39) |
G743S |
probably damaging |
Het |
| Rab29 |
A |
T |
1: 131,799,860 (GRCm39) |
E145V |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,653,956 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
T |
G |
14: 59,472,699 (GRCm39) |
I496S |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,066,393 (GRCm39) |
Y228H |
|
Het |
| Reep5 |
C |
T |
18: 34,490,222 (GRCm39) |
V92I |
probably damaging |
Het |
| Rfx3 |
T |
C |
19: 27,827,329 (GRCm39) |
S86G |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,304,384 (GRCm39) |
D572E |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,324,510 (GRCm39) |
|
probably null |
Het |
| Sele |
G |
A |
1: 163,876,975 (GRCm39) |
V84I |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,698,756 (GRCm39) |
D31G |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,115,813 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb6e |
A |
G |
13: 34,017,204 (GRCm39) |
V272A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,219,523 (GRCm39) |
D150G |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,769,374 (GRCm39) |
T265A |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,143,681 (GRCm39) |
M389K |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,204,236 (GRCm39) |
C35S |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,619 (GRCm39) |
V650E |
possibly damaging |
Het |
| Slit2 |
T |
C |
5: 48,349,568 (GRCm39) |
V274A |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,795,936 (GRCm39) |
E593G |
probably null |
Het |
| Spata2l |
C |
T |
8: 123,960,873 (GRCm39) |
V139M |
probably benign |
Het |
| Suco |
T |
C |
1: 161,684,427 (GRCm39) |
K231R |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 49,008,935 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,699,118 (GRCm39) |
S2415P |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,527,072 (GRCm39) |
A274D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,239 (GRCm39) |
I447T |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,942,028 (GRCm39) |
L355F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,927 (GRCm39) |
N152S |
possibly damaging |
Het |
| Vgf |
A |
G |
5: 137,061,110 (GRCm39) |
Q424R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,993 (GRCm39) |
M81K |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,218,067 (GRCm39) |
A732V |
possibly damaging |
Het |
| Xrcc3 |
T |
G |
12: 111,771,485 (GRCm39) |
D213A |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,988 (GRCm39) |
T690A |
probably benign |
Het |
| Zfat |
G |
A |
15: 67,956,250 (GRCm39) |
S1212L |
probably damaging |
Het |
| Zfp623 |
C |
T |
15: 75,819,949 (GRCm39) |
L302F |
probably damaging |
Het |
| Zfp799 |
A |
C |
17: 33,039,733 (GRCm39) |
C178G |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 727,634 (GRCm39) |
E348G |
unknown |
Het |
| Zhx3 |
A |
G |
2: 160,621,393 (GRCm39) |
W925R |
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 |
|
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'- AAGGGAGCCATTACAGATGC -3'
(R):5'- GGGTTGCCTAGTAGTGAGTACC -3'
Sequencing Primer
(F):5'- CGCAAGTTAGTCCAAGCTGC -3'
(R):5'- GTTGCCTAGTAGTGAGTACCAAGTAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation