Incidental Mutation 'IGL02718:Sfmbt2'
ID |
304854 |
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 # |
IGL02718
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10406842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 47
(D47G)
|
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 |
possibly damaging
Transcript: ENSMUST00000041105
AA Change: D47G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000040575 Gene: ENSMUSG00000061186 AA Change: D47G
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: ENSMUST00000114861
AA Change: D47G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110511 Gene: ENSMUSG00000061186 AA Change: D47G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114862
AA Change: D47G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110512 Gene: ENSMUSG00000061186 AA Change: D47G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114864
AA Change: D47G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110514 Gene: ENSMUSG00000061186 AA Change: D47G
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000116594
AA Change: D47G
|
SMART Domains |
Protein: ENSMUSP00000112293 Gene: ENSMUSG00000061186 AA Change: D47G
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
2210408I21Rik |
T |
A |
13: 77,322,991 (GRCm39) |
Y7N |
probably damaging |
Het |
Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
Brdt |
T |
C |
5: 107,497,934 (GRCm39) |
|
probably benign |
Het |
Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
Il31ra |
G |
A |
13: 112,666,903 (GRCm39) |
R392* |
probably null |
Het |
L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
Nek5 |
T |
G |
8: 22,587,479 (GRCm39) |
R314S |
probably benign |
Het |
Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,510,640 (GRCm39) |
W74R |
probably damaging |
Het |
Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
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 |
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 |
2015-04-16 |