Incidental Mutation 'IGL03405:Sbf2'
| ID |
421566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2 |
| Accession Numbers |
Genbank: NM_177324; MGI: 1921831 |
| Is this an essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
IGL03405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110308013-110614922 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110462932 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 146
(D146V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000167652]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: D146V
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: D146V
| 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: D146V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: D146V
| 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 benign
Transcript: ENSMUST00000166020
AA Change: D100V
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: D100V
| 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 |
probably benign
Transcript: ENSMUST00000166885
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167880
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171218
AA Change: D146V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: D146V
| 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
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 120,016,403 |
V101A |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,279,761 |
M121I |
probably damaging |
Het |
| Caprin1 |
G |
A |
2: 103,779,505 |
R143C |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,716,445 |
I340T |
possibly damaging |
Het |
| Chmp6 |
A |
G |
11: 119,915,447 |
Y33C |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,438,368 |
D679G |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,315,157 |
A430T |
possibly damaging |
Het |
| Commd6 |
A |
T |
14: 101,637,072 |
V28E |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,763,885 |
Y236F |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,330,238 |
S415G |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,227,927 |
I648T |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,025,241 |
D2441E |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,958,450 |
V2298A |
probably benign |
Het |
| Fbxl8 |
C |
A |
8: 105,268,120 |
T88K |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,433,766 |
H400R |
probably damaging |
Het |
| Helb |
G |
A |
10: 120,089,796 |
T892I |
probably damaging |
Het |
| Jaml |
A |
T |
9: 45,093,809 |
K124N |
possibly damaging |
Het |
| Llgl2 |
G |
T |
11: 115,850,842 |
E599D |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,426,832 |
A559T |
possibly damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,568,381 |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,000,124 |
K7194R |
unknown |
Het |
| Olfr1031 |
A |
G |
2: 85,991,886 |
Q23R |
possibly damaging |
Het |
| Olfr1394 |
A |
G |
11: 49,160,886 |
|
probably null |
Het |
| Rasgrf2 |
A |
T |
13: 91,896,051 |
I961N |
probably damaging |
Het |
| Retreg3 |
T |
C |
11: 101,100,969 |
D46G |
probably damaging |
Het |
| Rtp2 |
A |
C |
16: 23,927,576 |
S122A |
probably benign |
Het |
| Slc39a13 |
A |
G |
2: 91,063,103 |
V324A |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 30,025,581 |
T2013A |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,792,767 |
|
probably benign |
Het |
| Tnpo1 |
C |
T |
13: 98,863,840 |
E340K |
probably damaging |
Het |
| Trpm2 |
G |
A |
10: 77,966,072 |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,708,932 |
L34570P |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,531,924 |
V806A |
probably damaging |
Het |
| Wdr70 |
A |
G |
15: 8,035,871 |
S237P |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,953,895 |
N896S |
probably benign |
Het |
| Zan |
T |
A |
5: 137,424,597 |
D2718V |
unknown |
Het |
|
| Other mutations in Sbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sbf2
|
APN |
7 |
110375832 |
splice site |
probably benign |
|
|
IGL01089:Sbf2
|
APN |
7 |
110348962 |
missense |
probably damaging |
1.00 |
|
IGL01144:Sbf2
|
APN |
7 |
110329903 |
missense |
probably damaging |
1.00 |
|
IGL01652:Sbf2
|
APN |
7 |
110447120 |
missense |
probably damaging |
1.00 |
|
IGL01950:Sbf2
|
APN |
7 |
110365825 |
missense |
probably benign |
0.00 |
|
IGL02027:Sbf2
|
APN |
7 |
110461141 |
missense |
probably damaging |
1.00 |
|
IGL02244:Sbf2
|
APN |
7 |
110560295 |
missense |
probably damaging |
1.00 |
|
IGL02376:Sbf2
|
APN |
7 |
110462956 |
missense |
probably damaging |
0.99 |
|
N/A - 535:Sbf2
|
UTSW |
7 |
110312752 |
missense |
probably benign |
|
|
R0084:Sbf2
|
UTSW |
7 |
110442366 |
missense |
possibly damaging |
0.95 |
|
R0092:Sbf2
|
UTSW |
7 |
110320806 |
splice site |
probably benign |
|
|
R0121:Sbf2
|
UTSW |
7 |
110489219 |
critical splice donor site |
probably null |
|
|
R0464:Sbf2
|
UTSW |
7 |
110464576 |
splice site |
probably benign |
|
|
R0505:Sbf2
|
UTSW |
7 |
110399343 |
missense |
probably damaging |
1.00 |
|
R0531:Sbf2
|
UTSW |
7 |
110367323 |
splice site |
probably benign |
|
|
R0554:Sbf2
|
UTSW |
7 |
110428287 |
missense |
probably damaging |
1.00 |
|
R0617:Sbf2
|
UTSW |
7 |
110330683 |
frame shift |
probably null |
|
|
R0619:Sbf2
|
UTSW |
7 |
110310262 |
missense |
possibly damaging |
0.87 |
|
R0799:Sbf2
|
UTSW |
7 |
110341355 |
missense |
possibly damaging |
0.58 |
|
R0898:Sbf2
|
UTSW |
7 |
110371652 |
missense |
possibly damaging |
0.59 |
|
R1077:Sbf2
|
UTSW |
7 |
110367172 |
splice site |
probably benign |
|
|
R1167:Sbf2
|
UTSW |
7 |
110364549 |
missense |
probably damaging |
1.00 |
|
R1169:Sbf2
|
UTSW |
7 |
110310184 |
missense |
probably benign |
0.04 |
|
R1424:Sbf2
|
UTSW |
7 |
110315026 |
missense |
probably damaging |
1.00 |
|
R1536:Sbf2
|
UTSW |
7 |
110378043 |
missense |
probably damaging |
1.00 |
|
R1558:Sbf2
|
UTSW |
7 |
110428346 |
missense |
probably damaging |
1.00 |
|
R1601:Sbf2
|
UTSW |
7 |
110340076 |
critical splice acceptor site |
probably null |
|
|
R1762:Sbf2
|
UTSW |
7 |
110312758 |
missense |
probably benign |
|
|
R1771:Sbf2
|
UTSW |
7 |
110461146 |
nonsense |
probably null |
|
|
R1989:Sbf2
|
UTSW |
7 |
110348923 |
missense |
possibly damaging |
0.94 |
|
R2109:Sbf2
|
UTSW |
7 |
110461212 |
missense |
probably damaging |
1.00 |
|
R2126:Sbf2
|
UTSW |
7 |
110560295 |
missense |
probably damaging |
1.00 |
|
R2444:Sbf2
|
UTSW |
7 |
110330698 |
missense |
probably benign |
0.31 |
|
R3765:Sbf2
|
UTSW |
7 |
110375581 |
missense |
probably damaging |
1.00 |
|
R3808:Sbf2
|
UTSW |
7 |
110489280 |
makesense |
probably null |
|
|
R3895:Sbf2
|
UTSW |
7 |
110447091 |
missense |
probably damaging |
0.99 |
|
R3978:Sbf2
|
UTSW |
7 |
110329885 |
missense |
probably benign |
0.00 |
|
R4056:Sbf2
|
UTSW |
7 |
110441466 |
missense |
probably damaging |
0.99 |
|
R4057:Sbf2
|
UTSW |
7 |
110441466 |
missense |
probably damaging |
0.99 |
|
R4111:Sbf2
|
UTSW |
7 |
110428242 |
missense |
probably damaging |
1.00 |
|
R4569:Sbf2
|
UTSW |
7 |
110348853 |
critical splice donor site |
probably null |
|
|
R4670:Sbf2
|
UTSW |
7 |
110335399 |
missense |
probably damaging |
1.00 |
|
R4763:Sbf2
|
UTSW |
7 |
110420917 |
missense |
probably damaging |
1.00 |
|
R4792:Sbf2
|
UTSW |
7 |
110351610 |
missense |
probably damaging |
0.98 |
|
R4811:Sbf2
|
UTSW |
7 |
110372535 |
missense |
probably damaging |
1.00 |
|
R4822:Sbf2
|
UTSW |
7 |
110377939 |
intron |
probably benign |
|
|
R5110:Sbf2
|
UTSW |
7 |
110364657 |
missense |
probably benign |
0.10 |
|
R5143:Sbf2
|
UTSW |
7 |
110422540 |
nonsense |
probably null |
|
|
R5443:Sbf2
|
UTSW |
7 |
110377928 |
intron |
probably benign |
|
|
R5457:Sbf2
|
UTSW |
7 |
110312830 |
missense |
probably benign |
|
|
R5641:Sbf2
|
UTSW |
7 |
110438901 |
missense |
probably damaging |
1.00 |
|
R5915:Sbf2
|
UTSW |
7 |
110378096 |
nonsense |
probably null |
|
|
R5948:Sbf2
|
UTSW |
7 |
110489285 |
missense |
probably damaging |
1.00 |
|
R5977:Sbf2
|
UTSW |
7 |
110377986 |
missense |
probably benign |
0.00 |
|
R6052:Sbf2
|
UTSW |
7 |
110441534 |
missense |
probably damaging |
1.00 |
|
R6142:Sbf2
|
UTSW |
7 |
110348975 |
missense |
probably damaging |
1.00 |
|
R6327:Sbf2
|
UTSW |
7 |
110441552 |
missense |
probably damaging |
1.00 |
|
R6356:Sbf2
|
UTSW |
7 |
110372623 |
missense |
probably damaging |
1.00 |
|
R6450:Sbf2
|
UTSW |
7 |
110462863 |
missense |
probably damaging |
1.00 |
|
R6587:Sbf2
|
UTSW |
7 |
110440975 |
missense |
probably damaging |
1.00 |
|
R6696:Sbf2
|
UTSW |
7 |
110560298 |
missense |
probably benign |
0.04 |
|
R6986:Sbf2
|
UTSW |
7 |
110330615 |
missense |
probably damaging |
0.99 |
|
R7147:Sbf2
|
UTSW |
7 |
110447061 |
missense |
probably benign |
0.01 |
|
R7358:Sbf2
|
UTSW |
7 |
110399348 |
missense |
possibly damaging |
0.95 |
|
R7414:Sbf2
|
UTSW |
7 |
110314064 |
missense |
possibly damaging |
0.89 |
|
R7418:Sbf2
|
UTSW |
7 |
110365821 |
missense |
probably damaging |
1.00 |
|
R7423:Sbf2
|
UTSW |
7 |
110438848 |
missense |
possibly damaging |
0.48 |
|
R7425:Sbf2
|
UTSW |
7 |
110375777 |
nonsense |
probably null |
|
|
R7431:Sbf2
|
UTSW |
7 |
110351750 |
missense |
probably damaging |
1.00 |
|
R7497:Sbf2
|
UTSW |
7 |
110614716 |
nonsense |
probably null |
|
|
R7556:Sbf2
|
UTSW |
7 |
110314053 |
missense |
probably benign |
0.20 |
|
R7604:Sbf2
|
UTSW |
7 |
110378067 |
missense |
possibly damaging |
0.95 |
|
R7707:Sbf2
|
UTSW |
7 |
110330713 |
critical splice acceptor site |
probably null |
|
|
R7746:Sbf2
|
UTSW |
7 |
110441426 |
missense |
probably benign |
0.01 |
|
R7812:Sbf2
|
UTSW |
7 |
110449963 |
missense |
possibly damaging |
0.84 |
|
R7849:Sbf2
|
UTSW |
7 |
110372510 |
missense |
probably damaging |
1.00 |
|
R8026:Sbf2
|
UTSW |
7 |
110335387 |
missense |
probably damaging |
1.00 |
|
R8048:Sbf2
|
UTSW |
7 |
110315082 |
missense |
probably benign |
0.21 |
|
R8305:Sbf2
|
UTSW |
7 |
110371618 |
missense |
possibly damaging |
0.79 |
|
R8337:Sbf2
|
UTSW |
7 |
110441462 |
missense |
probably benign |
|
|
R8773:Sbf2
|
UTSW |
7 |
110348995 |
missense |
probably benign |
|
|
R8786:Sbf2
|
UTSW |
7 |
110464586 |
critical splice donor site |
probably null |
|
|
R8812:Sbf2
|
UTSW |
7 |
110329862 |
missense |
probably damaging |
1.00 |
|
R8876:Sbf2
|
UTSW |
7 |
110449939 |
missense |
probably damaging |
0.99 |
|
R8932:Sbf2
|
UTSW |
7 |
110440948 |
critical splice donor site |
probably null |
|
|
R8954:Sbf2
|
UTSW |
7 |
110438911 |
nonsense |
probably null |
|
|
R8991:Sbf2
|
UTSW |
7 |
110312689 |
missense |
probably benign |
0.20 |
|
R9119:Sbf2
|
UTSW |
7 |
110312085 |
missense |
possibly damaging |
0.93 |
|
R9310:Sbf2
|
UTSW |
7 |
110315085 |
missense |
possibly damaging |
0.58 |
|
R9344:Sbf2
|
UTSW |
7 |
110341328 |
missense |
probably benign |
0.10 |
|
R9346:Sbf2
|
UTSW |
7 |
110320739 |
missense |
probably benign |
0.05 |
|
R9404:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9406:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9408:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9472:Sbf2
|
UTSW |
7 |
110371591 |
missense |
possibly damaging |
0.88 |
|
R9554:Sbf2
|
UTSW |
7 |
110441464 |
missense |
probably damaging |
1.00 |
|
R9562:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9624:Sbf2
|
UTSW |
7 |
110364650 |
missense |
probably damaging |
1.00 |
|
R9652:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9653:Sbf2
|
UTSW |
7 |
110441495 |
missense |
possibly damaging |
0.81 |
|
R9709:Sbf2
|
UTSW |
7 |
110428307 |
missense |
probably damaging |
0.99 |
|
RF005:Sbf2
|
UTSW |
7 |
110317008 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation