Incidental Mutation 'IGL02967:Sfmbt1'
| ID |
365678 |
| 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: 0.679)
|
| Stock # |
IGL02967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30538759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 793
(W793R)
|
| 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: W793R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: W793R
| 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: W793R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: W793R
| 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: W793R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: W793R
| 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: W793R
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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,291 (GRCm39) |
T3455A |
probably damaging |
Het |
| Abca8a |
G |
A |
11: 109,941,762 (GRCm39) |
P1169L |
probably damaging |
Het |
| Ablim3 |
T |
A |
18: 61,959,574 (GRCm39) |
K272* |
probably null |
Het |
| Abtb3 |
A |
G |
10: 85,469,646 (GRCm39) |
T856A |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,210 (GRCm39) |
V574A |
possibly damaging |
Het |
| Acot4 |
A |
T |
12: 84,090,235 (GRCm39) |
I311L |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,026,164 (GRCm39) |
A1273V |
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,342,479 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,366 (GRCm39) |
K4112* |
probably null |
Het |
| Aspdh |
A |
G |
7: 44,114,963 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
C |
6: 136,583,725 (GRCm39) |
I1252T |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,367 (GRCm39) |
T220A |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,178,778 (GRCm39) |
F1856S |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,083,896 (GRCm39) |
N743I |
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,471,784 (GRCm39) |
K174E |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,893,222 (GRCm39) |
Q351L |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,672,919 (GRCm39) |
V550L |
possibly damaging |
Het |
| Edem1 |
T |
G |
6: 108,813,738 (GRCm39) |
S178A |
probably damaging |
Het |
| Fam222b |
C |
T |
11: 78,044,934 (GRCm39) |
A165V |
probably benign |
Het |
| Fer |
T |
C |
17: 64,203,262 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fggy |
T |
G |
4: 95,814,986 (GRCm39) |
F535C |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,222,627 (GRCm39) |
S1091T |
probably damaging |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Fut7 |
G |
T |
2: 25,315,155 (GRCm39) |
V91L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,103,067 (GRCm39) |
C565S |
probably damaging |
Het |
| Gzmm |
C |
T |
10: 79,530,897 (GRCm39) |
T233I |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,418,804 (GRCm39) |
L789Q |
possibly damaging |
Het |
| Krt32 |
G |
A |
11: 99,974,876 (GRCm39) |
S357F |
possibly damaging |
Het |
| Lrig2 |
C |
T |
3: 104,401,512 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
C |
A |
4: 107,718,431 (GRCm39) |
Q678K |
probably benign |
Het |
| Mmp27 |
C |
A |
9: 7,571,591 (GRCm39) |
Q45K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,099,896 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,294 (GRCm39) |
H684Q |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,460 (GRCm39) |
D2041G |
probably damaging |
Het |
| Nrg3 |
G |
T |
14: 38,390,256 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,276,085 (GRCm39) |
H46L |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,427 (GRCm39) |
Q1903K |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,913,554 (GRCm39) |
V616A |
probably damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,843,234 (GRCm39) |
F75Y |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,472,219 (GRCm39) |
V132I |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,201,740 (GRCm39) |
S227P |
probably damaging |
Het |
| Psmb5 |
G |
A |
14: 54,854,083 (GRCm39) |
R132C |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,668,602 (GRCm39) |
N360D |
probably damaging |
Het |
| Pygm |
G |
A |
19: 6,443,868 (GRCm39) |
V610M |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,349 (GRCm39) |
|
probably benign |
Het |
| Slc25a4 |
A |
G |
8: 46,662,187 (GRCm39) |
L157P |
probably damaging |
Het |
| Sost |
T |
G |
11: 101,855,084 (GRCm39) |
E75A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 111,958,922 (GRCm39) |
S119G |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,984,954 (GRCm39) |
I238T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,581,081 (GRCm39) |
L507* |
probably null |
Het |
| Tmem106a |
T |
C |
11: 101,477,121 (GRCm39) |
I110T |
possibly damaging |
Het |
| Tmem38a |
A |
T |
8: 73,339,926 (GRCm39) |
D298V |
possibly damaging |
Het |
| Tmprss12 |
A |
T |
15: 100,183,262 (GRCm39) |
R201S |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,238,759 (GRCm39) |
T271A |
possibly damaging |
Het |
| Virma |
T |
G |
4: 11,514,096 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,162 (GRCm39) |
I178N |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,604,901 (GRCm39) |
S1276P |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,398 (GRCm39) |
Y29C |
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 |
|
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 |
2015-12-18 |
Incidental Mutation