Incidental Mutation 'R0043:Sfmbt1'
ID |
18556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sfmbt1
|
Ensembl Gene |
ENSMUSG00000006527 |
Gene Name |
Scm-like with four mbt domains 1 |
Synonyms |
Smr, 4930442N21Rik, 9330180L21Rik |
MMRRC Submission |
038337-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.679)
|
Stock # |
R0043 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30538764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 794
(S794R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054230]
[ENSMUST00000112184]
[ENSMUST00000227201]
[ENSMUST00000227303]
[ENSMUST00000228006]
|
AlphaFold |
Q9JMD1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054230
AA Change: S794R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056744 Gene: ENSMUSG00000006527 AA Change: S794R
Domain | Start | End | E-Value | Type |
MBT
|
20 |
120 |
2.04e-40 |
SMART |
MBT
|
128 |
232 |
4.22e-33 |
SMART |
MBT
|
242 |
346 |
4.42e-36 |
SMART |
MBT
|
354 |
451 |
7.06e-44 |
SMART |
Pfam:DUF3588
|
498 |
617 |
6.7e-43 |
PFAM |
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
low complexity region
|
659 |
669 |
N/A |
INTRINSIC |
low complexity region
|
693 |
749 |
N/A |
INTRINSIC |
SAM
|
790 |
856 |
1.12e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112177
AA Change: S794R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107799 Gene: ENSMUSG00000006527 AA Change: S794R
Domain | Start | End | E-Value | Type |
MBT
|
20 |
120 |
2.04e-40 |
SMART |
MBT
|
128 |
232 |
4.22e-33 |
SMART |
MBT
|
242 |
346 |
4.42e-36 |
SMART |
MBT
|
354 |
451 |
7.06e-44 |
SMART |
Pfam:DUF3588
|
498 |
617 |
6.7e-43 |
PFAM |
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
low complexity region
|
659 |
669 |
N/A |
INTRINSIC |
low complexity region
|
693 |
749 |
N/A |
INTRINSIC |
SAM
|
790 |
856 |
1.12e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112184
AA Change: S794R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107802 Gene: ENSMUSG00000006527 AA Change: S794R
Domain | Start | End | E-Value | Type |
MBT
|
20 |
120 |
2.04e-40 |
SMART |
MBT
|
128 |
232 |
4.22e-33 |
SMART |
MBT
|
242 |
346 |
4.42e-36 |
SMART |
MBT
|
354 |
451 |
7.06e-44 |
SMART |
Pfam:DUF3588
|
499 |
614 |
3.1e-41 |
PFAM |
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
low complexity region
|
659 |
669 |
N/A |
INTRINSIC |
low complexity region
|
693 |
749 |
N/A |
INTRINSIC |
SAM
|
790 |
856 |
1.12e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227201
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227303
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228006
AA Change: S794R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.5317 |
Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
Validation Efficiency |
90% (56/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
A |
G |
2: 93,672,230 (GRCm39) |
Y213H |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,826,101 (GRCm39) |
S304T |
probably benign |
Het |
Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
Rasgef1b |
T |
C |
5: 99,391,053 (GRCm39) |
Y102C |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,134,820 (GRCm39) |
V331E |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
Ube2u |
G |
T |
4: 100,340,026 (GRCm39) |
V66F |
possibly damaging |
Het |
Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
probably damaging |
Het |
|
Other mutations in Sfmbt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01122:Sfmbt1
|
APN |
14 |
30,532,268 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01351:Sfmbt1
|
APN |
14 |
30,491,777 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01478:Sfmbt1
|
APN |
14 |
30,533,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01632:Sfmbt1
|
APN |
14 |
30,539,669 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Sfmbt1
|
APN |
14 |
30,539,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02456:Sfmbt1
|
APN |
14 |
30,507,837 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02651:Sfmbt1
|
APN |
14 |
30,537,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Sfmbt1
|
APN |
14 |
30,538,759 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Sfmbt1
|
UTSW |
14 |
30,538,714 (GRCm39) |
splice site |
probably null |
|
PIT4519001:Sfmbt1
|
UTSW |
14 |
30,506,148 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4531001:Sfmbt1
|
UTSW |
14 |
30,518,283 (GRCm39) |
missense |
probably benign |
0.00 |
R0389:Sfmbt1
|
UTSW |
14 |
30,533,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Sfmbt1
|
UTSW |
14 |
30,509,574 (GRCm39) |
splice site |
probably benign |
|
R0562:Sfmbt1
|
UTSW |
14 |
30,533,330 (GRCm39) |
splice site |
probably null |
|
R1083:Sfmbt1
|
UTSW |
14 |
30,509,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1900:Sfmbt1
|
UTSW |
14 |
30,524,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R2447:Sfmbt1
|
UTSW |
14 |
30,495,850 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3104:Sfmbt1
|
UTSW |
14 |
30,539,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R3105:Sfmbt1
|
UTSW |
14 |
30,539,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R3106:Sfmbt1
|
UTSW |
14 |
30,539,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Sfmbt1
|
UTSW |
14 |
30,509,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R5118:Sfmbt1
|
UTSW |
14 |
30,512,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Sfmbt1
|
UTSW |
14 |
30,537,211 (GRCm39) |
critical splice donor site |
probably null |
|
R5286:Sfmbt1
|
UTSW |
14 |
30,538,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Sfmbt1
|
UTSW |
14 |
30,538,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5295:Sfmbt1
|
UTSW |
14 |
30,495,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R5620:Sfmbt1
|
UTSW |
14 |
30,506,148 (GRCm39) |
critical splice donor site |
probably null |
|
R6113:Sfmbt1
|
UTSW |
14 |
30,537,141 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6139:Sfmbt1
|
UTSW |
14 |
30,533,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R6429:Sfmbt1
|
UTSW |
14 |
30,495,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Sfmbt1
|
UTSW |
14 |
30,488,053 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6955:Sfmbt1
|
UTSW |
14 |
30,487,991 (GRCm39) |
start gained |
probably benign |
|
R6957:Sfmbt1
|
UTSW |
14 |
30,509,546 (GRCm39) |
missense |
probably benign |
0.00 |
R7206:Sfmbt1
|
UTSW |
14 |
30,533,330 (GRCm39) |
splice site |
probably null |
|
R7337:Sfmbt1
|
UTSW |
14 |
30,506,696 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7451:Sfmbt1
|
UTSW |
14 |
30,538,768 (GRCm39) |
missense |
probably benign |
0.02 |
R7684:Sfmbt1
|
UTSW |
14 |
30,532,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Sfmbt1
|
UTSW |
14 |
30,538,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7983:Sfmbt1
|
UTSW |
14 |
30,519,673 (GRCm39) |
splice site |
probably null |
|
R8468:Sfmbt1
|
UTSW |
14 |
30,495,941 (GRCm39) |
missense |
probably benign |
|
R9342:Sfmbt1
|
UTSW |
14 |
30,519,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9446:Sfmbt1
|
UTSW |
14 |
30,506,697 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9590:Sfmbt1
|
UTSW |
14 |
30,512,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R9674:Sfmbt1
|
UTSW |
14 |
30,495,851 (GRCm39) |
missense |
probably damaging |
0.98 |
X0064:Sfmbt1
|
UTSW |
14 |
30,537,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-03-25 |