Incidental Mutation 'IGL03213:Sfmbt2'
ID |
413373 |
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 # |
IGL03213
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10409385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
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: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040575 Gene: ENSMUSG00000061186 AA Change: Y110C
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: Y110C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110511 Gene: ENSMUSG00000061186 AA Change: Y110C
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114862
AA Change: Y110C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110512 Gene: ENSMUSG00000061186 AA Change: Y110C
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114864
AA Change: Y110C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110514 Gene: ENSMUSG00000061186 AA Change: Y110C
Domain | Start | End | E-Value | Type |
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116594
AA Change: Y110C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112293 Gene: ENSMUSG00000061186 AA Change: Y110C
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,279 (GRCm39) |
D429G |
possibly damaging |
Het |
Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
Atg13 |
G |
A |
2: 91,515,512 (GRCm39) |
H227Y |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
Hnrnpll |
A |
T |
17: 80,341,527 (GRCm39) |
V504E |
probably damaging |
Het |
Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
Lrrc14 |
T |
C |
15: 76,597,983 (GRCm39) |
S238P |
possibly damaging |
Het |
Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
Zfp647 |
A |
G |
15: 76,796,177 (GRCm39) |
V161A |
possibly 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 |
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 |
2016-08-02 |