Incidental Mutation 'R6052:Sbf2'
| ID |
484155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
044220-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R6052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110040741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 362
(L362S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: L362S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: L362S
| 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 |
unknown
Transcript: ENSMUST00000164559
AA Change: L12S
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: L12S
| 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: L362S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: L362S
| 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: L316S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: L316S
| 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 |
unknown
Transcript: ENSMUST00000166885
AA Change: L178S
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: L178S
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167880
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171218
AA Change: L362S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: L362S
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
407 |
1.5e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171378
|
| Meta Mutation Damage Score |
0.7128 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
96% (80/83) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,537,165 (GRCm39) |
F473L |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,401,691 (GRCm39) |
I1449V |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,293,477 (GRCm39) |
L943* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,053,240 (GRCm39) |
V1257M |
probably damaging |
Het |
| B3gnt9 |
T |
C |
8: 105,981,230 (GRCm39) |
S53G |
probably benign |
Het |
| Baiap3 |
A |
T |
17: 25,467,444 (GRCm39) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,187,946 (GRCm39) |
D554G |
possibly damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,352,501 (GRCm39) |
V165A |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,457,145 (GRCm39) |
|
probably null |
Het |
| Cdcp1 |
A |
G |
9: 123,014,396 (GRCm39) |
I126T |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,800 (GRCm39) |
D1036E |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,863 (GRCm39) |
L240P |
probably damaging |
Het |
| Clec18a |
C |
A |
8: 111,805,448 (GRCm39) |
E218* |
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,384,173 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,794,227 (GRCm39) |
E682G |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,494,052 (GRCm39) |
V1736A |
possibly damaging |
Het |
| Dpep2 |
T |
A |
8: 106,717,270 (GRCm39) |
D162V |
possibly damaging |
Het |
| Drd3 |
C |
A |
16: 43,641,646 (GRCm39) |
P321T |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,861,554 (GRCm39) |
H1111R |
probably benign |
Het |
| Entpd1 |
T |
C |
19: 40,708,928 (GRCm39) |
S58P |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,423,967 (GRCm39) |
V541L |
possibly damaging |
Het |
| Eri3 |
T |
A |
4: 117,421,825 (GRCm39) |
D34E |
probably damaging |
Het |
| Eya1 |
T |
C |
1: 14,353,374 (GRCm39) |
D58G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,833,975 (GRCm39) |
S26C |
probably null |
Het |
| Fgl1 |
T |
C |
8: 41,653,548 (GRCm39) |
D115G |
probably damaging |
Het |
| Fitm2 |
T |
C |
2: 163,312,036 (GRCm39) |
Y59C |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,912,725 (GRCm39) |
I3343N |
probably damaging |
Het |
| Gba2 |
C |
A |
4: 43,568,330 (GRCm39) |
C679F |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,431,603 (GRCm39) |
|
probably benign |
Het |
| Gm5150 |
T |
A |
3: 16,044,917 (GRCm39) |
I103F |
probably damaging |
Het |
| Hhipl2 |
T |
C |
1: 183,204,965 (GRCm39) |
S313P |
possibly damaging |
Het |
| Hmgcs1 |
A |
G |
13: 120,166,995 (GRCm39) |
D474G |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,076 (GRCm39) |
Q267* |
probably null |
Het |
| Hsd17b8 |
A |
G |
17: 34,246,429 (GRCm39) |
L118P |
probably damaging |
Het |
| Igkv8-28 |
C |
T |
6: 70,120,673 (GRCm39) |
G90D |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,181,255 (GRCm39) |
I128F |
probably damaging |
Het |
| Krt4 |
A |
G |
15: 101,831,194 (GRCm39) |
|
probably null |
Het |
| Lamb2 |
T |
A |
9: 108,364,811 (GRCm39) |
C1188* |
probably null |
Het |
| Lsr |
A |
T |
7: 30,658,042 (GRCm39) |
M355K |
probably damaging |
Het |
| Map3k11 |
T |
G |
19: 5,747,430 (GRCm39) |
D555E |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,082 (GRCm39) |
Y282H |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,261,176 (GRCm39) |
I7M |
probably benign |
Het |
| Nprl3 |
G |
T |
11: 32,205,453 (GRCm39) |
H102N |
possibly damaging |
Het |
| Nup62 |
T |
A |
7: 44,478,464 (GRCm39) |
F160I |
possibly damaging |
Het |
| Or10w1 |
C |
A |
19: 13,631,871 (GRCm39) |
P26Q |
possibly damaging |
Het |
| Or2d3c |
A |
T |
7: 106,525,896 (GRCm39) |
F257I |
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,463,588 (GRCm39) |
T180S |
possibly damaging |
Het |
| Or5p76 |
A |
G |
7: 108,122,945 (GRCm39) |
S71P |
probably benign |
Het |
| Or6c35 |
C |
A |
10: 129,169,071 (GRCm39) |
T107K |
possibly damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,896,383 (GRCm39) |
|
probably null |
Het |
| Pcdh9 |
C |
T |
14: 94,123,282 (GRCm39) |
V963I |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,909,044 (GRCm39) |
R375G |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,233,008 (GRCm39) |
T108M |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,779,635 (GRCm39) |
Q269L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,008,799 (GRCm39) |
N11K |
possibly damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,222 (GRCm39) |
D158V |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,413,083 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,049,293 (GRCm39) |
T190A |
probably benign |
Het |
| Prrc2b |
A |
C |
2: 32,102,297 (GRCm39) |
H790P |
possibly damaging |
Het |
| Rest |
T |
G |
5: 77,429,027 (GRCm39) |
V482G |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,039,999 (GRCm39) |
I322L |
probably benign |
Het |
| Rpl18 |
G |
A |
7: 45,369,554 (GRCm39) |
|
probably benign |
Het |
| Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,464 (GRCm39) |
T409A |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,890,430 (GRCm39) |
T292A |
possibly damaging |
Het |
| Spg11 |
T |
G |
2: 121,927,837 (GRCm39) |
K649T |
probably damaging |
Het |
| Srprb |
T |
A |
9: 103,067,415 (GRCm39) |
I268F |
possibly damaging |
Het |
| Tap2 |
G |
A |
17: 34,433,683 (GRCm39) |
G566S |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,885,325 (GRCm39) |
V168A |
possibly damaging |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,330,890 (GRCm39) |
L50H |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,194 (GRCm39) |
I738T |
probably damaging |
Het |
| Tspan12 |
T |
C |
6: 21,772,637 (GRCm39) |
E304G |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,559,271 (GRCm39) |
G1671S |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,782 (GRCm39) |
S600G |
possibly damaging |
Het |
| Wnt3 |
C |
A |
11: 103,699,000 (GRCm39) |
Y35* |
probably null |
Het |
| Xpo7 |
T |
C |
14: 70,921,159 (GRCm39) |
Y603C |
possibly damaging |
Het |
| Zfp457 |
G |
A |
13: 67,442,015 (GRCm39) |
H91Y |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,250 (GRCm39) |
C215S |
unknown |
Het |
| Zfp882 |
G |
A |
8: 72,668,349 (GRCm39) |
G392D |
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 |
|
|
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 |
|
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'- GTCACATAACACAGAGACTTTAAGG -3'
(R):5'- GTATGCTCTGGAATCCAATTCTC -3'
Sequencing Primer
(F):5'- ATAACACAGAGACTTTAAGGACATTC -3'
(R):5'- TCCAACATAGGCTCTCAGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation