Incidental Mutation 'R2391:Sfmbt2'
| ID |
247754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfmbt2
|
| Ensembl Gene |
ENSMUSG00000061186 |
| Gene Name |
Scm-like with four mbt domains 2 |
| Synonyms |
D330030P06Rik, D2Wsu23e |
| MMRRC Submission |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2391 (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 10450504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 260
(Y260H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000116594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041105
AA Change: Y260H
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: Y260H
| 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: Y260H
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: Y260H
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,810,041 (GRCm39) |
S107P |
probably benign |
Het |
| Or10q3 |
G |
T |
19: 11,848,180 (GRCm39) |
Y133* |
probably null |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,534,799 (GRCm39) |
D290G |
probably damaging |
Het |
| Slc6a20a |
A |
T |
9: 123,493,686 (GRCm39) |
V65E |
probably damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trim12a |
T |
C |
7: 103,956,138 (GRCm39) |
E134G |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
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 |
|
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'- TCCATTTCTGACAGCAGCTC -3'
(R):5'- ATGTCAGTTGCTCACAGTGCC -3'
Sequencing Primer
(F):5'- GCAGCTCTTTAATTTTAGAGAATCCC -3'
(R):5'- TAGGGATTCAAACTCAGGGCCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation