Incidental Mutation 'R2447:Sfmbt1'
| ID |
248905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfmbt1
|
| Ensembl Gene |
ENSMUSG00000006527 |
| Gene Name |
Scm-like with four mbt domains 1 |
| Synonyms |
Smr, 4930442N21Rik, 9330180L21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R2447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30495850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 44
(I44M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054230]
[ENSMUST00000112184]
[ENSMUST00000227201]
[ENSMUST00000227303]
[ENSMUST00000228006]
|
| AlphaFold |
Q9JMD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054230
AA Change: I44M
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: I44M
| 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 |
possibly damaging
Transcript: ENSMUST00000112177
AA Change: I44M
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: I44M
| 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 |
possibly damaging
Transcript: ENSMUST00000112184
AA Change: I44M
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: I44M
| 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 |
noncoding transcript
Transcript: ENSMUST00000128554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131706
AA Change: I44M
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000117866
Gene: ENSMUSG00000006527
AA Change: I44M
| 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 |
7.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227201
AA Change: I44M
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227303
AA Change: I44M
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228006
AA Change: I44M
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227408
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,073,816 (GRCm39) |
I15V |
probably benign |
Het |
| Gm12888 |
A |
T |
4: 121,175,547 (GRCm39) |
D78E |
possibly damaging |
Het |
| Gm4952 |
T |
A |
19: 12,595,770 (GRCm39) |
N53K |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,898 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,111,973 (GRCm39) |
T567I |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Panx1 |
A |
G |
9: 14,956,185 (GRCm39) |
I50T |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,995 (GRCm39) |
F1114L |
probably benign |
Het |
| Phf6 |
C |
G |
X: 52,042,435 (GRCm39) |
Q279E |
probably benign |
Het |
| Phip |
A |
G |
9: 82,797,452 (GRCm39) |
V517A |
probably damaging |
Het |
| Psmb5 |
C |
T |
14: 54,851,927 (GRCm39) |
V86I |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,114,666 (GRCm39) |
|
probably benign |
Het |
| Tmem89 |
A |
T |
9: 108,743,868 (GRCm39) |
D56V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,468,178 (GRCm39) |
C56S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,284 (GRCm39) |
A1322S |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,833,724 (GRCm39) |
H188Y |
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 |
|
R0043:Sfmbt1
|
UTSW |
14 |
30,538,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAGTTCCATACTGTCATGTG -3'
(R):5'- TCCTGATGTCACACCAGAAGTC -3'
Sequencing Primer
(F):5'- CCATACTGTCATGTGAGGCAG -3'
(R):5'- ACACCAGAAGTCTGCTTTTCGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation