Incidental Mutation 'R0919:Sfmbt2'
| ID |
81568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfmbt2
|
| Ensembl Gene |
ENSMUSG00000061186 |
| Gene Name |
Scm-like with four mbt domains 2 |
| Synonyms |
D330030P06Rik, D2Wsu23e |
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10582382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 676
(L676P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000116594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041105
AA Change: L676P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: L676P
| 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 benign
Transcript: ENSMUST00000116594
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| 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 |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCCACTGAGCCACATCCAC -3'
(R):5'- GGGTTCATCACAGAGCCATACAGC -3'
Sequencing Primer
(F):5'- aagataactccccacctgaac -3'
(R):5'- CCATACAGCCCACTGGGAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation