Incidental Mutation 'R7983:Sfmbt1'
| ID |
656499 |
| 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 |
046024-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R7983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
splice site (27 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 30519673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054230]
[ENSMUST00000112184]
[ENSMUST00000227201]
[ENSMUST00000227303]
[ENSMUST00000228006]
|
| AlphaFold |
Q9JMD1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054230
|
| SMART Domains |
Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
| 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 null
Transcript: ENSMUST00000112184
|
| SMART Domains |
Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
| 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 null
Transcript: ENSMUST00000227201
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227303
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228006
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (39/41) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casd1 |
G |
T |
6: 4,624,472 (GRCm39) |
E422* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
| Cfap100 |
G |
A |
6: 90,392,687 (GRCm39) |
T141I |
|
Het |
| Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
| Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
| Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
| Cyp2a5 |
A |
T |
7: 26,539,866 (GRCm39) |
T305S |
probably benign |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,099 (GRCm39) |
D307V |
probably damaging |
Het |
| Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
| Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
| Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
| Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
| Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
| Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
| Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
| R3hdm4 |
A |
T |
10: 79,748,557 (GRCm39) |
V129E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
| Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
| Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
| Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
| Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
| Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
| Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
| Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
| Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,753,911 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCAGTCATAGCTCCAGTTGC -3'
(R):5'- ATTCCTGCCCTGGTGGAATC -3'
Sequencing Primer
(F):5'- GCTTGTGAGACCCAGTCCTTAAAG -3'
(R):5'- GCCCTGGTGGAATCCTGTG -3'
|
| Posted On |
2020-12-07 |
Incidental Mutation