Incidental Mutation 'R5862:Sfmbt2'
| ID |
453951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfmbt2
|
| Ensembl Gene |
ENSMUSG00000061186 |
| Gene Name |
Scm-like with four mbt domains 2 |
| Synonyms |
D330030P06Rik, D2Wsu23e |
| MMRRC Submission |
043231-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10406863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 54
(T54I)
|
| 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: T54I
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: T54I
| 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: ENSMUST00000114861
AA Change: T54I
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: T54I
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114862
AA Change: T54I
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: T54I
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114864
AA Change: T54I
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: T54I
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116594
AA Change: T54I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: T54I
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
| Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
| Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
| Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
| Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
| Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
| Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
| Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
| Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
| Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
| Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
| Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
| Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
| Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
| Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
| Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
| Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
| Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
| Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
| Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
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'- TGTTTCTTCCACAGCGAGCTTAAG -3'
(R):5'- TGTTTCAGGAGCAGCTATCTTC -3'
Sequencing Primer
(F):5'- CACAGCGAGCTTAAGTTCTTGCG -3'
(R):5'- ACCCCGCCTCATCTAGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation