Incidental Mutation 'R0554:Sbf2'
| ID |
45363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
038746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R0554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110027494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 501
(V501F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: V501F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: V501F
| 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 |
noncoding transcript
Transcript: ENSMUST00000163579
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164559
AA Change: V108F
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: V108F
| 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: V501F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: V501F
| 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: ENSMUST00000165449
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166020
AA Change: V455F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: V455F
| 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 |
noncoding transcript
Transcript: ENSMUST00000167880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171378
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,181 (GRCm39) |
Y255* |
probably null |
Het |
| 1810024B03Rik |
A |
G |
2: 127,029,196 (GRCm39) |
M1T |
probably null |
Het |
| 4930503L19Rik |
T |
C |
18: 70,600,451 (GRCm39) |
D386G |
probably damaging |
Het |
| Ace2 |
T |
A |
X: 162,958,947 (GRCm39) |
N601K |
probably benign |
Het |
| Adam4 |
A |
C |
12: 81,468,198 (GRCm39) |
I141R |
probably damaging |
Het |
| Adcy10 |
G |
A |
1: 165,340,699 (GRCm39) |
G235S |
probably benign |
Het |
| Adcy5 |
G |
A |
16: 35,114,387 (GRCm39) |
V997I |
probably benign |
Het |
| Aff2 |
T |
G |
X: 68,907,680 (GRCm39) |
W1221G |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,802,917 (GRCm39) |
N194D |
probably benign |
Het |
| Apba2 |
T |
G |
7: 64,395,528 (GRCm39) |
L668R |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,604,581 (GRCm39) |
D152G |
probably damaging |
Het |
| Bcl3 |
C |
G |
7: 19,553,991 (GRCm39) |
V126L |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,289,619 (GRCm39) |
T446A |
probably benign |
Het |
| Cd209g |
C |
T |
8: 4,184,995 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,823,901 (GRCm39) |
V197E |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,144,966 (GRCm39) |
C610R |
possibly damaging |
Het |
| Col6a2 |
A |
G |
10: 76,446,995 (GRCm39) |
|
probably null |
Het |
| Coro7 |
A |
G |
16: 4,450,121 (GRCm39) |
L576P |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,266,030 (GRCm39) |
V503E |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,567,665 (GRCm39) |
L806* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,944,070 (GRCm39) |
V373A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,894,913 (GRCm39) |
R3645S |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,343,602 (GRCm39) |
S1649P |
probably benign |
Het |
| Draxin |
T |
G |
4: 148,192,420 (GRCm39) |
K297N |
probably damaging |
Het |
| Epha7 |
T |
C |
4: 28,951,401 (GRCm39) |
S841P |
probably damaging |
Het |
| Esp8 |
T |
G |
17: 40,841,166 (GRCm39) |
D142E |
unknown |
Het |
| F5 |
T |
G |
1: 164,007,018 (GRCm39) |
V274G |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,465,283 (GRCm39) |
S475G |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,781,901 (GRCm39) |
N484S |
probably benign |
Het |
| Focad |
T |
C |
4: 88,267,126 (GRCm39) |
Y1046H |
unknown |
Het |
| Furin |
C |
T |
7: 80,041,032 (GRCm39) |
G602D |
probably damaging |
Het |
| Fut8 |
A |
T |
12: 77,411,744 (GRCm39) |
I69L |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,030,928 (GRCm39) |
I78T |
probably benign |
Het |
| Gpr182 |
T |
C |
10: 127,586,940 (GRCm39) |
I4V |
probably benign |
Het |
| Gpr63 |
T |
C |
4: 25,007,447 (GRCm39) |
M57T |
probably benign |
Het |
| Grm1 |
T |
A |
10: 10,595,667 (GRCm39) |
T654S |
probably benign |
Het |
| Gtf2h4 |
T |
C |
17: 35,979,531 (GRCm39) |
T371A |
probably benign |
Het |
| Helq |
T |
C |
5: 100,938,066 (GRCm39) |
N460S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,594,868 (GRCm39) |
N1867S |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Iigp1c |
G |
A |
18: 60,378,489 (GRCm39) |
R8H |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,644 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,942,200 (GRCm39) |
V511D |
possibly damaging |
Het |
| Irag2 |
G |
A |
6: 145,111,013 (GRCm39) |
A237T |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,109,461 (GRCm39) |
Y220C |
probably damaging |
Het |
| Itgav |
T |
G |
2: 83,624,614 (GRCm39) |
S735A |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,492 (GRCm39) |
I27V |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,772,343 (GRCm39) |
E334G |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,532,274 (GRCm39) |
L116H |
probably damaging |
Het |
| Magohb |
T |
A |
6: 131,262,660 (GRCm39) |
H98L |
probably benign |
Het |
| Mgat2 |
A |
G |
12: 69,232,166 (GRCm39) |
T247A |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,483,398 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
C |
10: 116,664,878 (GRCm39) |
E384G |
probably damaging |
Het |
| Nfam1 |
G |
T |
15: 82,917,410 (GRCm39) |
R8S |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,865 (GRCm39) |
I44N |
probably damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,865 (GRCm39) |
N42S |
probably damaging |
Het |
| Or5m10b |
T |
C |
2: 85,699,863 (GRCm39) |
F309S |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,368 (GRCm39) |
T275A |
probably benign |
Het |
| Orc4 |
C |
T |
2: 48,795,433 (GRCm39) |
S431N |
probably benign |
Het |
| Pax2 |
T |
C |
19: 44,750,300 (GRCm39) |
V129A |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,572 (GRCm39) |
D268G |
probably damaging |
Het |
| Pdcd1 |
G |
A |
1: 93,967,107 (GRCm39) |
R264C |
probably damaging |
Het |
| Pi15 |
T |
A |
1: 17,691,872 (GRCm39) |
M187K |
probably benign |
Het |
| Plag1 |
C |
T |
4: 3,904,546 (GRCm39) |
C215Y |
probably damaging |
Het |
| Plagl1 |
A |
G |
10: 13,002,926 (GRCm39) |
T65A |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,328 (GRCm39) |
T162A |
probably benign |
Het |
| Prss48 |
T |
A |
3: 85,908,228 (GRCm39) |
Q18L |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,582 (GRCm39) |
C2580* |
probably null |
Het |
| Rab40b |
T |
A |
11: 121,250,432 (GRCm39) |
Q74L |
probably damaging |
Het |
| Raf1 |
A |
G |
6: 115,600,491 (GRCm39) |
I376T |
probably benign |
Het |
| Rbm46 |
A |
T |
3: 82,772,575 (GRCm39) |
F186I |
probably damaging |
Het |
| Reps1 |
C |
T |
10: 17,998,867 (GRCm39) |
T720M |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,054,855 (GRCm39) |
M649T |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,134,264 (GRCm39) |
R47* |
probably null |
Het |
| Rhox2f |
A |
G |
X: 36,753,124 (GRCm39) |
Y8C |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,760,007 (GRCm39) |
Y1604C |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,201,756 (GRCm39) |
C943R |
probably damaging |
Het |
| Ropn1l |
A |
T |
15: 31,451,295 (GRCm39) |
M63K |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,791,467 (GRCm39) |
M354K |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,087,455 (GRCm39) |
H590R |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,394,422 (GRCm39) |
C369S |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,875,418 (GRCm39) |
Y143H |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,956 (GRCm39) |
R755* |
probably null |
Het |
| Trim12c |
C |
A |
7: 103,994,169 (GRCm39) |
L228F |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,530,743 (GRCm39) |
Q290K |
probably benign |
Het |
| Uba3 |
T |
C |
6: 97,168,221 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,817 (GRCm39) |
E205G |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,351,206 (GRCm39) |
S72T |
probably benign |
Het |
| Upk3bl |
C |
T |
5: 136,088,648 (GRCm39) |
T113I |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,124,644 (GRCm39) |
D20E |
probably damaging |
Het |
| Vmn2r19 |
G |
A |
6: 123,313,102 (GRCm39) |
G724E |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,583,129 (GRCm39) |
K29* |
probably null |
Het |
| Vwf |
C |
T |
6: 125,619,744 (GRCm39) |
A1474V |
probably benign |
Het |
| Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,013,689 (GRCm39) |
H737R |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,180,244 (GRCm39) |
D787G |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,205,053 (GRCm39) |
H434R |
probably damaging |
Het |
| Zp1 |
C |
A |
19: 10,897,926 (GRCm39) |
C5F |
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 |
|
|
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 |
|
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'- TGCAAAGTTGCTGCACTGTATATTCGT -3'
(R):5'- ACCTGTTTGATTTTAGTGTGTCCCTCTG -3'
Sequencing Primer
(F):5'- tcaatcttcctgccttagcc -3'
(R):5'- AGTGTGTCCCTCTGTGCTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation