Incidental Mutation 'R3104:Sfmbt1'
| ID |
262972 |
| 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 |
040578-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R3104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30539753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 847
(C847Y)
|
| 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: C847Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: C847Y
| 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: C847Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: C847Y
| 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: C847Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: C847Y
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227201
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227303
AA Change: C804Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228006
AA Change: C847Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2501 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 88,961,693 (GRCm39) |
V2355E |
probably damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
G |
A |
14: 46,623,438 (GRCm39) |
A36V |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,855,900 (GRCm39) |
S647P |
probably damaging |
Het |
| Cntln |
C |
T |
4: 84,875,406 (GRCm39) |
T280M |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,650,204 (GRCm39) |
T398A |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 17,077,247 (GRCm39) |
Y137H |
probably damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,813,246 (GRCm39) |
L662F |
probably benign |
Het |
| Cyp19a1 |
T |
C |
9: 54,094,083 (GRCm39) |
I60V |
probably benign |
Het |
| Cyp2c68 |
C |
T |
19: 39,722,757 (GRCm39) |
V264I |
probably benign |
Het |
| Dbx1 |
A |
T |
7: 49,286,417 (GRCm39) |
L16H |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,837,439 (GRCm39) |
Y3951N |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Fam124b |
T |
A |
1: 80,190,748 (GRCm39) |
I212F |
probably damaging |
Het |
| Fam187b |
A |
G |
7: 30,676,665 (GRCm39) |
D58G |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,945,243 (GRCm39) |
Y323H |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm5174 |
A |
G |
10: 86,492,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
G |
A |
5: 134,237,756 (GRCm39) |
D278N |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,785,103 (GRCm39) |
D1480E |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,214,335 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
A |
G |
1: 134,928,210 (GRCm39) |
|
probably null |
Het |
| Lmod2 |
A |
C |
6: 24,604,471 (GRCm39) |
K482T |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,262,598 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
C |
A |
7: 30,166,965 (GRCm39) |
S724* |
probably null |
Het |
| Or5t9 |
T |
C |
2: 86,660,035 (GRCm39) |
M313T |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,727 (GRCm39) |
E667G |
possibly damaging |
Het |
| Plce1 |
C |
T |
19: 38,608,963 (GRCm39) |
P424L |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,196,635 (GRCm39) |
T694M |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,076,067 (GRCm39) |
K233* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,203 (GRCm39) |
T74A |
probably benign |
Het |
| Sppl2b |
A |
G |
10: 80,703,325 (GRCm39) |
E529G |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,765,035 (GRCm39) |
N8D |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,662,450 (GRCm39) |
V1768I |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Usp29 |
T |
A |
7: 6,965,052 (GRCm39) |
C298* |
probably null |
Het |
| Usp8 |
T |
C |
2: 126,600,432 (GRCm39) |
V1050A |
probably damaging |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,430 (GRCm39) |
T229A |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,810,515 (GRCm39) |
S195P |
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 |
|
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'- TTTTCAGGGTAGCAGACTATGG -3'
(R):5'- GTGCAAAGATAGCAAGCCAC -3'
Sequencing Primer
(F):5'- AGCAGACTATGGTTCTTTTCAAAGGG -3'
(R):5'- ACCACTTGCAGGCCGACAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation