Incidental Mutation 'R4763:Sbf2'
| ID |
357026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
042404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R4763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110020124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 579
(L579I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033058
AA Change: L579I
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: L579I
| 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 |
probably benign
Transcript: ENSMUST00000164559
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
| 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: L579I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: L579I
| 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: L533I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: L533I
| 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
|
| Meta Mutation Damage Score |
0.1065 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
97% (73/75) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610303G11Rik |
A |
G |
9: 98,069,176 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd2 |
A |
G |
7: 79,009,879 (GRCm39) |
E418G |
probably benign |
Het |
| Acox2 |
G |
T |
14: 8,241,334 (GRCm38) |
H593N |
possibly damaging |
Het |
| Adam17 |
A |
G |
12: 21,384,016 (GRCm39) |
Y495H |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,929,991 (GRCm39) |
I240T |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,766 (GRCm39) |
T653A |
probably damaging |
Het |
| Atxn7l1 |
G |
A |
12: 33,408,877 (GRCm39) |
|
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,463,508 (GRCm39) |
V220A |
probably damaging |
Het |
| Card14 |
A |
T |
11: 119,234,001 (GRCm39) |
S864C |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,971,945 (GRCm39) |
A625V |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,859,287 (GRCm39) |
V425A |
probably benign |
Het |
| Cfap73 |
A |
G |
5: 120,768,294 (GRCm39) |
F155L |
probably damaging |
Het |
| Cntrl |
G |
T |
2: 35,065,563 (GRCm39) |
R2235L |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,484 (GRCm39) |
K355E |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,277 (GRCm39) |
G387D |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,952,480 (GRCm39) |
Y286C |
probably damaging |
Het |
| E2f7 |
A |
T |
10: 110,616,710 (GRCm39) |
K650M |
probably damaging |
Het |
| Fbln2 |
C |
T |
6: 91,246,982 (GRCm39) |
S1027F |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gm6811 |
A |
G |
17: 21,314,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2i |
T |
C |
5: 134,284,818 (GRCm39) |
K409E |
probably damaging |
Het |
| Hamp |
T |
A |
7: 30,641,989 (GRCm39) |
R55S |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,445,811 (GRCm39) |
T1596I |
possibly damaging |
Het |
| Hells |
T |
C |
19: 38,945,643 (GRCm39) |
V601A |
probably damaging |
Het |
| Ighv5-8 |
A |
G |
12: 113,617,161 (GRCm39) |
S34P |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,022,955 (GRCm39) |
D275G |
probably damaging |
Het |
| Meak7 |
A |
G |
8: 120,495,122 (GRCm39) |
V212A |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,629,435 (GRCm39) |
D59G |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,385,102 (GRCm39) |
|
probably null |
Het |
| Mlec |
G |
A |
5: 115,295,972 (GRCm39) |
A41V |
unknown |
Het |
| Ncoa1 |
G |
A |
12: 4,325,297 (GRCm39) |
T927I |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,127,052 (GRCm39) |
K378* |
probably null |
Het |
| Neb |
T |
A |
2: 52,216,732 (GRCm39) |
K148* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or4k41 |
T |
A |
2: 111,280,023 (GRCm39) |
C179* |
probably null |
Het |
| Or5p73 |
G |
A |
7: 108,065,393 (GRCm39) |
M287I |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,256 (GRCm39) |
T261A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,117,627 (GRCm39) |
V920M |
probably damaging |
Het |
| Parp6 |
C |
A |
9: 59,538,648 (GRCm39) |
P241H |
probably damaging |
Het |
| Pcyox1l |
A |
G |
18: 61,830,850 (GRCm39) |
Y341H |
probably benign |
Het |
| Pfas |
A |
T |
11: 68,881,020 (GRCm39) |
D1080E |
possibly damaging |
Het |
| Pi4kb |
G |
T |
3: 94,911,720 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
C |
T |
14: 70,614,227 (GRCm39) |
V846M |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,746,168 (GRCm39) |
F1941L |
probably damaging |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,142,105 (GRCm39) |
I720T |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,697,119 (GRCm39) |
L932S |
unknown |
Het |
| Rnaseh2a |
T |
A |
8: 85,692,021 (GRCm39) |
E84V |
probably benign |
Het |
| Rpl18a |
G |
A |
8: 71,348,330 (GRCm39) |
R118C |
probably benign |
Het |
| Rprm |
C |
A |
2: 53,975,228 (GRCm39) |
C30F |
possibly damaging |
Het |
| Sfn |
C |
A |
4: 133,328,656 (GRCm39) |
R142L |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,677,341 (GRCm39) |
K159E |
probably damaging |
Het |
| Sugct |
A |
T |
13: 17,837,372 (GRCm39) |
F86L |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,415,173 (GRCm39) |
S292P |
probably damaging |
Het |
| Tmem33 |
A |
T |
5: 67,443,479 (GRCm39) |
I219F |
probably benign |
Het |
| Trav8-1 |
C |
A |
14: 53,707,492 (GRCm39) |
T44K |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,393,844 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,819,952 (GRCm39) |
L25P |
probably damaging |
Het |
| Vmn1r221 |
G |
T |
13: 23,401,958 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r50 |
C |
T |
6: 90,085,062 (GRCm39) |
T269I |
probably benign |
Het |
| Washc3 |
A |
G |
10: 88,055,185 (GRCm39) |
D125G |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,615,671 (GRCm39) |
H278Y |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,444 (GRCm39) |
N136D |
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 |
|
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'- CCATAGCAGCCTCAAGACATTG -3'
(R):5'- CTCAGTCTGCATTACAAGCTACTTG -3'
Sequencing Primer
(F):5'- GCAGCCTCAAGACATTGATAGTTCAG -3'
(R):5'- GCTACTTGTACTTGTTTTTCTTACTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation