Incidental Mutation 'R9310:Sbf2'
| ID |
705472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2 |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_177324; MGI: 1921831 |
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R9310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110308013-110614922 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110315085 bp (GRCm38)
|
| 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: 116,972,120 (GRCm38) |
I83V |
possibly damaging |
Het |
| Abcf1 |
G |
A |
17: 35,961,729 (GRCm38) |
A288V |
probably null |
Het |
| Acer1 |
A |
T |
17: 56,955,598 (GRCm38) |
V184D |
probably damaging |
Het |
| Apoh |
T |
C |
11: 108,407,481 (GRCm38) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,686,314 (GRCm38) |
Y959C |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,028,962 (GRCm38) |
H84L |
probably benign |
Het |
| Atxn1 |
A |
C |
13: 45,568,018 (GRCm38) |
Y134D |
probably damaging |
Het |
| BC055324 |
A |
G |
1: 163,964,520 (GRCm38) |
C610R |
probably damaging |
Het |
| Btbd1 |
T |
C |
7: 81,829,237 (GRCm38) |
Y52C |
probably damaging |
Het |
| Cabp2 |
A |
G |
19: 4,086,464 (GRCm38) |
D170G |
probably damaging |
Het |
| Cacna1a |
C |
A |
8: 84,536,417 (GRCm38) |
A407E |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,271,953 (GRCm38) |
|
probably null |
Het |
| Cc2d2a |
T |
C |
5: 43,695,146 (GRCm38) |
F404S |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,947,336 (GRCm38) |
M281T |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,962,315 (GRCm38) |
M1694K |
unknown |
Het |
| Chd6 |
G |
T |
2: 161,039,261 (GRCm38) |
T261K |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 134,229,019 (GRCm38) |
S585G |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,001,347 (GRCm38) |
Y312F |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,338,313 (GRCm38) |
Y146* |
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,175,414 (GRCm38) |
K145E |
unknown |
Het |
| Coq8b |
T |
A |
7: 27,242,061 (GRCm38) |
I221N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,814,781 (GRCm38) |
L375* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,433 (GRCm38) |
F4214S |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,294,139 (GRCm38) |
F1067S |
possibly damaging |
Het |
| Dpp6 |
G |
A |
5: 27,631,441 (GRCm38) |
A310T |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,725,644 (GRCm38) |
L825I |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,113,705 (GRCm38) |
V929A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,189,316 (GRCm38) |
D45H |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,296,850 (GRCm38) |
|
probably null |
Het |
| Gm4847 |
T |
C |
1: 166,632,712 (GRCm38) |
R402G |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,026,805 (GRCm38) |
L194S |
probably damaging |
Het |
| Heatr1 |
A |
T |
13: 12,438,610 (GRCm38) |
H2122L |
probably benign |
Het |
| Il17b |
T |
A |
18: 61,692,263 (GRCm38) |
C123* |
probably null |
Het |
| Il17rc |
T |
C |
6: 113,474,249 (GRCm38) |
L181P |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,397,928 (GRCm38) |
I619L |
probably benign |
Het |
| Itgax |
C |
A |
7: 128,142,260 (GRCm38) |
Y814* |
probably null |
Het |
| Marcks |
C |
T |
10: 37,136,491 (GRCm38) |
E183K |
unknown |
Het |
| Mefv |
T |
C |
16: 3,715,388 (GRCm38) |
T340A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,351,713 (GRCm38) |
K958R |
probably benign |
Het |
| Mkl2 |
T |
A |
16: 13,401,090 (GRCm38) |
D533E |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,469,377 (GRCm38) |
L811Q |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,254,744 (GRCm38) |
Y1351C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,263,696 (GRCm38) |
M2406V |
probably benign |
Het |
| Nebl |
T |
C |
2: 17,348,867 (GRCm38) |
T214A |
probably benign |
Het |
| Nlrx1 |
A |
T |
9: 44,253,408 (GRCm38) |
I913N |
probably damaging |
Het |
| Npr2 |
G |
T |
4: 43,632,404 (GRCm38) |
A74S |
probably benign |
Het |
| Olfr1220 |
T |
A |
2: 89,097,913 (GRCm38) |
S5C |
probably damaging |
Het |
| Olfr711 |
C |
A |
7: 106,971,471 (GRCm38) |
C291F |
probably damaging |
Het |
| Olfr794 |
T |
A |
10: 129,570,818 (GRCm38) |
N54K |
probably benign |
Het |
| Pard3b |
G |
T |
1: 62,166,369 (GRCm38) |
V441F |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,090,072 (GRCm38) |
R4K |
probably benign |
Het |
| Pisd |
G |
T |
5: 32,737,440 (GRCm38) |
N337K |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,249,662 (GRCm38) |
K10R |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,029,515 (GRCm38) |
W132R |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,155,999 (GRCm38) |
M1225K |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,509,934 (GRCm38) |
D309G |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,002,052 (GRCm38) |
G743S |
probably damaging |
Het |
| Rab29 |
A |
T |
1: 131,872,122 (GRCm38) |
E145V |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,735,719 (GRCm38) |
|
probably null |
Het |
| Rcbtb1 |
T |
G |
14: 59,235,250 (GRCm38) |
I496S |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,099,959 (GRCm38) |
Y228H |
|
Het |
| Reep5 |
C |
T |
18: 34,357,169 (GRCm38) |
V92I |
probably damaging |
Het |
| Rfx3 |
T |
C |
19: 27,849,929 (GRCm38) |
S86G |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,397,077 (GRCm38) |
D572E |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,176,446 (GRCm38) |
|
probably null |
Het |
| Sele |
G |
A |
1: 164,049,406 (GRCm38) |
V84I |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,732,497 (GRCm38) |
D31G |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,149,554 (GRCm38) |
I244V |
probably benign |
Het |
| Serpinb6e |
A |
G |
13: 33,833,221 (GRCm38) |
V272A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,035,540 (GRCm38) |
D150G |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,722,600 (GRCm38) |
T265A |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,416,370 (GRCm38) |
M389K |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,554,488 (GRCm38) |
C35S |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,499,894 (GRCm38) |
V650E |
possibly damaging |
Het |
| Slit2 |
T |
C |
5: 48,192,226 (GRCm38) |
V274A |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,795,937 (GRCm38) |
E593G |
probably null |
Het |
| Spata2l |
C |
T |
8: 123,234,134 (GRCm38) |
V139M |
probably benign |
Het |
| Suco |
T |
C |
1: 161,856,858 (GRCm38) |
K231R |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,555,900 (GRCm38) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,827,269 (GRCm38) |
S2415P |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,696,727 (GRCm38) |
A274D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,239 (GRCm38) |
I447T |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 85,051,202 (GRCm38) |
L355F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,747,702 (GRCm38) |
N152S |
possibly damaging |
Het |
| Vgf |
A |
G |
5: 137,032,256 (GRCm38) |
Q424R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,392,124 (GRCm38) |
M81K |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,346,218 (GRCm38) |
A732V |
possibly damaging |
Het |
| Wdr63 |
C |
T |
3: 146,097,140 (GRCm38) |
|
probably null |
Het |
| Xrcc3 |
T |
G |
12: 111,805,051 (GRCm38) |
D213A |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,996,976 (GRCm38) |
T690A |
probably benign |
Het |
| Zfat |
G |
A |
15: 68,084,401 (GRCm38) |
S1212L |
probably damaging |
Het |
| Zfp623 |
C |
T |
15: 75,948,100 (GRCm38) |
L302F |
probably damaging |
Het |
| Zfp799 |
A |
C |
17: 32,820,759 (GRCm38) |
C178G |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 727,634 (GRCm38) |
E348G |
unknown |
Het |
| Zhx3 |
A |
G |
2: 160,779,473 (GRCm38) |
W925R |
possibly damaging |
Het |
|
| Other mutations in Sbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sbf2
|
APN |
7 |
110,375,832 (GRCm38) |
splice site |
probably benign |
|
|
IGL01089:Sbf2
|
APN |
7 |
110,348,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01144:Sbf2
|
APN |
7 |
110,329,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01652:Sbf2
|
APN |
7 |
110,447,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01950:Sbf2
|
APN |
7 |
110,365,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02027:Sbf2
|
APN |
7 |
110,461,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02244:Sbf2
|
APN |
7 |
110,560,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02376:Sbf2
|
APN |
7 |
110,462,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03405:Sbf2
|
APN |
7 |
110,462,932 (GRCm38) |
missense |
probably damaging |
0.98 |
|
N/A - 535:Sbf2
|
UTSW |
7 |
110,312,752 (GRCm38) |
missense |
probably benign |
|
|
R0084:Sbf2
|
UTSW |
7 |
110,442,366 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0092:Sbf2
|
UTSW |
7 |
110,320,806 (GRCm38) |
splice site |
probably benign |
|
|
R0121:Sbf2
|
UTSW |
7 |
110,489,219 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0464:Sbf2
|
UTSW |
7 |
110,464,576 (GRCm38) |
splice site |
probably benign |
|
|
R0505:Sbf2
|
UTSW |
7 |
110,399,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0531:Sbf2
|
UTSW |
7 |
110,367,323 (GRCm38) |
splice site |
probably benign |
|
|
R0554:Sbf2
|
UTSW |
7 |
110,428,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0617:Sbf2
|
UTSW |
7 |
110,330,683 (GRCm38) |
frame shift |
probably null |
|
|
R0619:Sbf2
|
UTSW |
7 |
110,310,262 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0799:Sbf2
|
UTSW |
7 |
110,341,355 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0898:Sbf2
|
UTSW |
7 |
110,371,652 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1077:Sbf2
|
UTSW |
7 |
110,367,172 (GRCm38) |
splice site |
probably benign |
|
|
R1167:Sbf2
|
UTSW |
7 |
110,364,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1169:Sbf2
|
UTSW |
7 |
110,310,184 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1424:Sbf2
|
UTSW |
7 |
110,315,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1536:Sbf2
|
UTSW |
7 |
110,378,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1558:Sbf2
|
UTSW |
7 |
110,428,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1601:Sbf2
|
UTSW |
7 |
110,340,076 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1762:Sbf2
|
UTSW |
7 |
110,312,758 (GRCm38) |
missense |
probably benign |
|
|
R1771:Sbf2
|
UTSW |
7 |
110,461,146 (GRCm38) |
nonsense |
probably null |
|
|
R1989:Sbf2
|
UTSW |
7 |
110,348,923 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2109:Sbf2
|
UTSW |
7 |
110,461,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2126:Sbf2
|
UTSW |
7 |
110,560,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2444:Sbf2
|
UTSW |
7 |
110,330,698 (GRCm38) |
missense |
probably benign |
0.31 |
|
R3765:Sbf2
|
UTSW |
7 |
110,375,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3808:Sbf2
|
UTSW |
7 |
110,489,280 (GRCm38) |
makesense |
probably null |
|
|
R3895:Sbf2
|
UTSW |
7 |
110,447,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3978:Sbf2
|
UTSW |
7 |
110,329,885 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4056:Sbf2
|
UTSW |
7 |
110,441,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4057:Sbf2
|
UTSW |
7 |
110,441,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4111:Sbf2
|
UTSW |
7 |
110,428,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Sbf2
|
UTSW |
7 |
110,348,853 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4670:Sbf2
|
UTSW |
7 |
110,335,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4763:Sbf2
|
UTSW |
7 |
110,420,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4792:Sbf2
|
UTSW |
7 |
110,351,610 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4811:Sbf2
|
UTSW |
7 |
110,372,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Sbf2
|
UTSW |
7 |
110,377,939 (GRCm38) |
intron |
probably benign |
|
|
R5110:Sbf2
|
UTSW |
7 |
110,364,657 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5143:Sbf2
|
UTSW |
7 |
110,422,540 (GRCm38) |
nonsense |
probably null |
|
|
R5443:Sbf2
|
UTSW |
7 |
110,377,928 (GRCm38) |
intron |
probably benign |
|
|
R5457:Sbf2
|
UTSW |
7 |
110,312,830 (GRCm38) |
missense |
probably benign |
|
|
R5641:Sbf2
|
UTSW |
7 |
110,438,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5915:Sbf2
|
UTSW |
7 |
110,378,096 (GRCm38) |
nonsense |
probably null |
|
|
R5948:Sbf2
|
UTSW |
7 |
110,489,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5977:Sbf2
|
UTSW |
7 |
110,377,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6052:Sbf2
|
UTSW |
7 |
110,441,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6142:Sbf2
|
UTSW |
7 |
110,348,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6327:Sbf2
|
UTSW |
7 |
110,441,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6356:Sbf2
|
UTSW |
7 |
110,372,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6450:Sbf2
|
UTSW |
7 |
110,462,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6587:Sbf2
|
UTSW |
7 |
110,440,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6696:Sbf2
|
UTSW |
7 |
110,560,298 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6986:Sbf2
|
UTSW |
7 |
110,330,615 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7147:Sbf2
|
UTSW |
7 |
110,447,061 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7358:Sbf2
|
UTSW |
7 |
110,399,348 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7414:Sbf2
|
UTSW |
7 |
110,314,064 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7418:Sbf2
|
UTSW |
7 |
110,365,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7423:Sbf2
|
UTSW |
7 |
110,438,848 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7425:Sbf2
|
UTSW |
7 |
110,375,777 (GRCm38) |
nonsense |
probably null |
|
|
R7431:Sbf2
|
UTSW |
7 |
110,351,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7497:Sbf2
|
UTSW |
7 |
110,614,716 (GRCm38) |
nonsense |
probably null |
|
|
R7556:Sbf2
|
UTSW |
7 |
110,314,053 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7604:Sbf2
|
UTSW |
7 |
110,378,067 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7707:Sbf2
|
UTSW |
7 |
110,330,713 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7746:Sbf2
|
UTSW |
7 |
110,441,426 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7812:Sbf2
|
UTSW |
7 |
110,449,963 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7849:Sbf2
|
UTSW |
7 |
110,372,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8026:Sbf2
|
UTSW |
7 |
110,335,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8048:Sbf2
|
UTSW |
7 |
110,315,082 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8305:Sbf2
|
UTSW |
7 |
110,371,618 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8337:Sbf2
|
UTSW |
7 |
110,441,462 (GRCm38) |
missense |
probably benign |
|
|
R8773:Sbf2
|
UTSW |
7 |
110,348,995 (GRCm38) |
missense |
probably benign |
|
|
R8786:Sbf2
|
UTSW |
7 |
110,464,586 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8812:Sbf2
|
UTSW |
7 |
110,329,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8876:Sbf2
|
UTSW |
7 |
110,449,939 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8932:Sbf2
|
UTSW |
7 |
110,440,948 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8954:Sbf2
|
UTSW |
7 |
110,438,911 (GRCm38) |
nonsense |
probably null |
|
|
R8991:Sbf2
|
UTSW |
7 |
110,312,689 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9119:Sbf2
|
UTSW |
7 |
110,312,085 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9344:Sbf2
|
UTSW |
7 |
110,341,328 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9346:Sbf2
|
UTSW |
7 |
110,320,739 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9404:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9406:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9408:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9472:Sbf2
|
UTSW |
7 |
110,371,591 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9554:Sbf2
|
UTSW |
7 |
110,441,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9562:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9624:Sbf2
|
UTSW |
7 |
110,364,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9652:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9653:Sbf2
|
UTSW |
7 |
110,441,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9709:Sbf2
|
UTSW |
7 |
110,428,307 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF005:Sbf2
|
UTSW |
7 |
110,317,008 (GRCm38) |
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