Incidental Mutation 'IGL02252:Sfmbt1'
ID |
286462 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.670)
|
Stock # |
IGL02252
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30539690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 826
(L826P)
|
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: L826P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056744 Gene: ENSMUSG00000006527 AA Change: L826P
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: L826P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107799 Gene: ENSMUSG00000006527 AA Change: L826P
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: L826P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107802 Gene: ENSMUSG00000006527 AA Change: L826P
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 damaging
Transcript: ENSMUST00000132451
AA Change: L671P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227201
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227303
AA Change: L783P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228006
AA Change: L826P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,444,678 (GRCm39) |
|
probably benign |
Het |
Actl7b |
A |
T |
4: 56,741,205 (GRCm39) |
I51N |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,311,101 (GRCm39) |
I1119M |
probably benign |
Het |
Apol10a |
T |
A |
15: 77,372,670 (GRCm39) |
V102D |
probably benign |
Het |
Atrx |
T |
C |
X: 104,889,429 (GRCm39) |
E1628G |
possibly damaging |
Het |
Btnl2 |
C |
T |
17: 34,584,364 (GRCm39) |
S429F |
possibly damaging |
Het |
C4bp |
C |
A |
1: 130,564,524 (GRCm39) |
D387Y |
probably damaging |
Het |
Ceacam23 |
G |
T |
7: 17,644,457 (GRCm39) |
V525F |
possibly damaging |
Het |
Crybg3 |
G |
T |
16: 59,372,887 (GRCm39) |
|
probably benign |
Het |
Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
Efcab3 |
C |
A |
11: 104,644,753 (GRCm39) |
R1114S |
possibly damaging |
Het |
Elp1 |
G |
T |
4: 56,759,813 (GRCm39) |
Q1151K |
probably benign |
Het |
Fign |
A |
G |
2: 63,810,983 (GRCm39) |
S96P |
probably benign |
Het |
Ggt5 |
A |
G |
10: 75,438,566 (GRCm39) |
I96V |
possibly damaging |
Het |
Gm3238 |
A |
G |
10: 77,606,691 (GRCm39) |
|
probably benign |
Het |
Gm4792 |
G |
T |
10: 94,131,102 (GRCm39) |
P69Q |
unknown |
Het |
Ighv1-58 |
A |
T |
12: 115,275,897 (GRCm39) |
N80K |
possibly damaging |
Het |
Irgm1 |
C |
T |
11: 48,756,981 (GRCm39) |
G277S |
possibly damaging |
Het |
Jsrp1 |
A |
G |
10: 80,644,707 (GRCm39) |
V233A |
probably benign |
Het |
Kcp |
T |
A |
6: 29,504,548 (GRCm39) |
R85W |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,406,130 (GRCm39) |
Y565H |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,860,094 (GRCm39) |
W69* |
probably null |
Het |
Knl1 |
A |
T |
2: 118,903,021 (GRCm39) |
Q1574L |
probably damaging |
Het |
Lao1 |
A |
G |
4: 118,824,613 (GRCm39) |
N232D |
probably benign |
Het |
Lipn |
A |
G |
19: 34,049,157 (GRCm39) |
I108V |
probably benign |
Het |
Lrrc49 |
T |
A |
9: 60,595,142 (GRCm39) |
M1L |
probably benign |
Het |
Matn2 |
G |
T |
15: 34,316,736 (GRCm39) |
R26L |
probably damaging |
Het |
Mmp16 |
G |
A |
4: 18,110,523 (GRCm39) |
D440N |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,107 (GRCm39) |
A1026T |
probably damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,984,912 (GRCm39) |
F256I |
probably benign |
Het |
Msantd3 |
A |
C |
4: 48,560,869 (GRCm39) |
E148D |
probably benign |
Het |
Mylk3 |
G |
T |
8: 86,082,105 (GRCm39) |
L361I |
probably benign |
Het |
Nlrp12 |
A |
G |
7: 3,293,980 (GRCm39) |
S117P |
probably benign |
Het |
Nsmaf |
T |
C |
4: 6,398,378 (GRCm39) |
E870G |
probably benign |
Het |
Oplah |
T |
C |
15: 76,188,964 (GRCm39) |
T320A |
probably damaging |
Het |
Or5p50 |
C |
A |
7: 107,422,353 (GRCm39) |
A108S |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,267 (GRCm39) |
I138F |
probably damaging |
Het |
Pard3 |
T |
G |
8: 128,125,237 (GRCm39) |
S729A |
probably benign |
Het |
Pdzd9 |
T |
C |
7: 120,262,238 (GRCm39) |
I75V |
probably benign |
Het |
Pgf |
A |
G |
12: 85,216,199 (GRCm39) |
|
probably benign |
Het |
Phf1 |
T |
A |
17: 27,154,109 (GRCm39) |
V140D |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,357,708 (GRCm39) |
S775P |
possibly damaging |
Het |
Rhobtb1 |
A |
T |
10: 69,085,515 (GRCm39) |
T85S |
probably damaging |
Het |
Sez6 |
T |
A |
11: 77,865,339 (GRCm39) |
Y659N |
probably damaging |
Het |
Sftpd |
T |
A |
14: 40,894,471 (GRCm39) |
D316V |
probably damaging |
Het |
Shc2 |
T |
C |
10: 79,462,204 (GRCm39) |
D313G |
probably benign |
Het |
Snrk |
T |
C |
9: 121,986,326 (GRCm39) |
Y232H |
probably damaging |
Het |
Sntg1 |
G |
T |
1: 8,484,452 (GRCm39) |
P456Q |
probably benign |
Het |
Sorbs1 |
A |
T |
19: 40,302,841 (GRCm39) |
N783K |
probably damaging |
Het |
Stag3 |
A |
T |
5: 138,300,810 (GRCm39) |
I923F |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,067,712 (GRCm39) |
H2168L |
possibly damaging |
Het |
Tmem132c |
A |
T |
5: 127,539,991 (GRCm39) |
N339I |
possibly damaging |
Het |
Trim34b |
A |
G |
7: 103,979,139 (GRCm39) |
T129A |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,785,994 (GRCm39) |
L664P |
probably damaging |
Het |
Ubl5 |
C |
T |
9: 20,556,923 (GRCm39) |
R56* |
probably null |
Het |
Ubox5 |
G |
A |
2: 130,441,707 (GRCm39) |
R327W |
probably damaging |
Het |
Ubr5 |
G |
T |
15: 38,025,138 (GRCm39) |
A546E |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
Unc45a |
T |
C |
7: 79,982,717 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,101 (GRCm39) |
T73I |
probably benign |
Het |
Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
Vmn2r74 |
A |
G |
7: 85,606,531 (GRCm39) |
Y272H |
probably benign |
Het |
Wdr43 |
T |
A |
17: 71,933,845 (GRCm39) |
D147E |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,367 (GRCm39) |
D169V |
probably benign |
Het |
Zim1 |
A |
T |
7: 6,691,627 (GRCm39) |
N15K |
unknown |
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 |
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 |
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 |
2015-04-16 |