Incidental Mutation 'IGL03325:Sfmbt2'
| ID |
416607 |
| 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 # |
IGL03325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10582628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 696
(Y696H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000116594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041105
AA Change: Y696H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: Y696H
| 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 |
possibly damaging
Transcript: ENSMUST00000116594
AA Change: Y663H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: Y663H
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
| Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
| Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
| Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
| Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
| Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
| Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
Het |
|
| Other mutations in Sfmbt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Sfmbt2
|
APN |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation