Incidental Mutation 'R6429:Sfmbt1'
ID |
518445 |
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 |
044567-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.679)
|
Stock # |
R6429 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30495868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 50
(F50L)
|
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: F50L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056744 Gene: ENSMUSG00000006527 AA Change: F50L
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: F50L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107802 Gene: ENSMUSG00000006527 AA Change: F50L
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
AA Change: F50L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227303
AA Change: F50L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227408
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228006
AA Change: F50L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
A |
5: 114,366,652 (GRCm39) |
E1565K |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,363,158 (GRCm39) |
N63S |
probably damaging |
Het |
Arhgef15 |
G |
T |
11: 68,838,622 (GRCm39) |
N591K |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,511,910 (GRCm39) |
S34P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,081,298 (GRCm39) |
D127G |
probably damaging |
Het |
Ccdc87 |
T |
A |
19: 4,891,263 (GRCm39) |
V585E |
probably benign |
Het |
Cemip2 |
T |
C |
19: 21,779,272 (GRCm39) |
C361R |
probably benign |
Het |
Cul2 |
T |
C |
18: 3,421,345 (GRCm39) |
I223T |
probably damaging |
Het |
Dgkq |
C |
T |
5: 108,801,574 (GRCm39) |
V495M |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,295,330 (GRCm39) |
I570T |
possibly damaging |
Het |
Dstyk |
C |
T |
1: 132,377,542 (GRCm39) |
Q383* |
probably null |
Het |
Emilin2 |
C |
A |
17: 71,617,951 (GRCm39) |
|
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,406,393 (GRCm39) |
I1163M |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,248,094 (GRCm39) |
E1008K |
possibly damaging |
Het |
Gm35315 |
A |
T |
5: 110,226,525 (GRCm39) |
Y305N |
possibly damaging |
Het |
Grhl3 |
T |
A |
4: 135,284,507 (GRCm39) |
D195V |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,375,248 (GRCm39) |
S250T |
possibly damaging |
Het |
Il33 |
T |
C |
19: 29,929,400 (GRCm39) |
F41S |
probably benign |
Het |
Il4 |
A |
G |
11: 53,504,736 (GRCm39) |
S15P |
possibly damaging |
Het |
Inf2 |
C |
T |
12: 112,570,690 (GRCm39) |
P410S |
probably benign |
Het |
Kalrn |
T |
A |
16: 34,152,534 (GRCm39) |
D349V |
possibly damaging |
Het |
Krt4 |
A |
G |
15: 101,831,229 (GRCm39) |
M224T |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,291,631 (GRCm39) |
S3516N |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,295,387 (GRCm39) |
|
probably null |
Het |
Msr1 |
G |
A |
8: 40,068,858 (GRCm39) |
P213S |
probably damaging |
Het |
Nptx1 |
G |
T |
11: 119,435,547 (GRCm39) |
C256* |
probably null |
Het |
Nr1d1 |
T |
C |
11: 98,662,840 (GRCm39) |
Y51C |
probably damaging |
Het |
Or4c11c |
G |
A |
2: 88,661,869 (GRCm39) |
R136Q |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,572,461 (GRCm39) |
D363G |
probably damaging |
Het |
Pira13 |
A |
T |
7: 3,825,345 (GRCm39) |
H432Q |
possibly damaging |
Het |
Prkag1 |
A |
G |
15: 98,712,404 (GRCm39) |
F143L |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,272,478 (GRCm39) |
K72R |
possibly damaging |
Het |
Pvrig-ps |
A |
G |
5: 138,340,312 (GRCm39) |
T28A |
probably benign |
Het |
Rhod |
C |
T |
19: 4,476,133 (GRCm39) |
C206Y |
probably benign |
Het |
Rngtt |
C |
A |
4: 33,320,606 (GRCm39) |
S51* |
probably null |
Het |
Rreb1 |
T |
G |
13: 38,116,105 (GRCm39) |
S1155A |
probably benign |
Het |
Scn9a |
A |
C |
2: 66,357,307 (GRCm39) |
I998S |
possibly damaging |
Het |
Six4 |
A |
T |
12: 73,150,247 (GRCm39) |
V766D |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,206,135 (GRCm39) |
I421T |
probably damaging |
Het |
Son |
T |
A |
16: 91,455,054 (GRCm39) |
M1267K |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,287,027 (GRCm39) |
D156V |
possibly damaging |
Het |
Supt3 |
A |
G |
17: 45,430,030 (GRCm39) |
E361G |
probably benign |
Het |
Tbx3 |
T |
A |
5: 119,812,256 (GRCm39) |
Y185* |
probably null |
Het |
Trpm1 |
A |
T |
7: 63,918,252 (GRCm39) |
T531S |
probably benign |
Het |
Tspan32 |
T |
A |
7: 142,572,479 (GRCm39) |
W172R |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,559,318 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
A |
7: 85,208,276 (GRCm39) |
I734F |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,243,175 (GRCm39) |
T618A |
probably benign |
Het |
Wac |
T |
A |
18: 7,920,163 (GRCm39) |
V339E |
probably damaging |
Het |
Wrn |
G |
A |
8: 33,833,024 (GRCm39) |
T156M |
probably damaging |
Het |
Zeb1 |
T |
A |
18: 5,770,498 (GRCm39) |
C884S |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,984,214 (GRCm39) |
|
probably benign |
Het |
Zmpste24 |
A |
G |
4: 120,952,867 (GRCm39) |
V10A |
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 |
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 |
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'- ATGTGAGGCAGAGCTCTGTAG -3'
(R):5'- TTCTGCTGACACCACCCAATG -3'
Sequencing Primer
(F):5'- GCCCACTGTTATGAATTAGAATTGG -3'
(R):5'- AATGGGGTAGAGGCCAGCTTTC -3'
|
Posted On |
2018-05-24 |