Incidental Mutation 'R6721:Sfmbt2'
ID |
529569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sfmbt2
|
Ensembl Gene |
ENSMUSG00000061186 |
Gene Name |
Scm-like with four mbt domains 2 |
Synonyms |
D330030P06Rik, D2Wsu23e |
MMRRC Submission |
044839-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6721 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10547836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 473
(T473A)
|
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: T473A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040575 Gene: ENSMUSG00000061186 AA Change: T473A
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
AA Change: T473A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000112293 Gene: ENSMUSG00000061186 AA Change: T473A
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 |
0.1759 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
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 |
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 |
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'- CCATTCCCAGAAGTGTATTTCTCAG -3'
(R):5'- ACTGTCACCTAGAAGGATGTCC -3'
Sequencing Primer
(F):5'- CCCAGAAGTGTATTTCTCAGTCTTGG -3'
(R):5'- GTCACCTAGAAGGATGTCCAAATGTC -3'
|
Posted On |
2018-08-01 |