Incidental Mutation 'IGL00778:Sfmbt2'
ID |
13999 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sfmbt2
|
Ensembl Gene |
ENSMUSG00000061186 |
Gene Name |
Scm-like with four mbt domains 2 |
Synonyms |
D330030P06Rik, D2Wsu23e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00778
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10406818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 39
(E39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000114861]
[ENSMUST00000114862]
[ENSMUST00000114864]
[ENSMUST00000116594]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041105
AA Change: E39G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040575 Gene: ENSMUSG00000061186 AA Change: E39G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
MBT
|
151 |
255 |
2.03e-35 |
SMART |
MBT
|
265 |
371 |
3.6e-27 |
SMART |
MBT
|
379 |
475 |
4.15e-41 |
SMART |
Pfam:DUF3588
|
528 |
643 |
1.4e-37 |
PFAM |
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
low complexity region
|
853 |
869 |
N/A |
INTRINSIC |
SAM
|
902 |
968 |
1.12e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114861
AA Change: E39G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110511 Gene: ENSMUSG00000061186 AA Change: E39G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114862
AA Change: E39G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110512 Gene: ENSMUSG00000061186 AA Change: E39G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114864
AA Change: E39G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110514 Gene: ENSMUSG00000061186 AA Change: E39G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000116594
AA Change: E39G
|
SMART Domains |
Protein: ENSMUSP00000112293 Gene: ENSMUSG00000061186 AA Change: E39G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
MBT
|
151 |
255 |
2.03e-35 |
SMART |
MBT
|
265 |
371 |
3.6e-27 |
SMART |
MBT
|
379 |
475 |
4.15e-41 |
SMART |
Pfam:DUF3588
|
527 |
646 |
2.9e-40 |
PFAM |
low complexity region
|
657 |
670 |
N/A |
INTRINSIC |
low complexity region
|
686 |
705 |
N/A |
INTRINSIC |
low complexity region
|
708 |
722 |
N/A |
INTRINSIC |
internal_repeat_2
|
725 |
744 |
1.3e-5 |
PROSPERO |
internal_repeat_2
|
745 |
764 |
1.3e-5 |
PROSPERO |
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
SAM
|
869 |
935 |
1.12e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126531
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
Other mutations in Sfmbt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01294:Sfmbt2
|
APN |
2 |
10,595,232 (GRCm39) |
splice site |
probably benign |
|
IGL01503:Sfmbt2
|
APN |
2 |
10,584,165 (GRCm39) |
nonsense |
probably null |
|
IGL01996:Sfmbt2
|
APN |
2 |
10,444,837 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02071:Sfmbt2
|
APN |
2 |
10,582,763 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02440:Sfmbt2
|
APN |
2 |
10,573,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02718:Sfmbt2
|
APN |
2 |
10,406,842 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03213:Sfmbt2
|
APN |
2 |
10,409,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03325:Sfmbt2
|
APN |
2 |
10,582,628 (GRCm39) |
missense |
probably damaging |
1.00 |
Supermarket
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
3-1:Sfmbt2
|
UTSW |
2 |
10,409,277 (GRCm39) |
missense |
probably damaging |
1.00 |
D605:Sfmbt2
|
UTSW |
2 |
10,584,136 (GRCm39) |
missense |
probably benign |
0.08 |
R0919:Sfmbt2
|
UTSW |
2 |
10,582,382 (GRCm39) |
missense |
probably benign |
0.04 |
R1180:Sfmbt2
|
UTSW |
2 |
10,406,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R2391:Sfmbt2
|
UTSW |
2 |
10,450,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4208:Sfmbt2
|
UTSW |
2 |
10,547,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R4898:Sfmbt2
|
UTSW |
2 |
10,584,069 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4928:Sfmbt2
|
UTSW |
2 |
10,450,556 (GRCm39) |
missense |
probably benign |
0.17 |
R5643:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R5644:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R5862:Sfmbt2
|
UTSW |
2 |
10,406,863 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5990:Sfmbt2
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6721:Sfmbt2
|
UTSW |
2 |
10,547,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R7098:Sfmbt2
|
UTSW |
2 |
10,584,000 (GRCm39) |
missense |
probably benign |
0.04 |
R7133:Sfmbt2
|
UTSW |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Sfmbt2
|
UTSW |
2 |
10,582,766 (GRCm39) |
missense |
probably benign |
0.04 |
R7809:Sfmbt2
|
UTSW |
2 |
10,398,155 (GRCm39) |
missense |
probably benign |
0.02 |
R8090:Sfmbt2
|
UTSW |
2 |
10,466,190 (GRCm39) |
missense |
probably benign |
0.01 |
R8181:Sfmbt2
|
UTSW |
2 |
10,580,190 (GRCm39) |
missense |
probably benign |
0.09 |
R8346:Sfmbt2
|
UTSW |
2 |
10,466,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R8983:Sfmbt2
|
UTSW |
2 |
10,409,267 (GRCm39) |
missense |
probably damaging |
0.98 |
R9226:Sfmbt2
|
UTSW |
2 |
10,442,860 (GRCm39) |
missense |
probably benign |
0.03 |
R9640:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sfmbt2
|
UTSW |
2 |
10,580,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2012-12-06 |