Incidental Mutation 'R5118:Sfmbt1'
| ID |
392763 |
| 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 |
042706-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R5118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30512727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 360
(L360P)
|
| 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: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: L360P
| 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: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: L360P
| 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: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: L360P
| 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: ENSMUST00000131706
AA Change: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117866
Gene: ENSMUSG00000006527
AA Change: L360P
| 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 |
7.3e-43 |
PFAM |
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227201
AA Change: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227303
AA Change: L360P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228006
AA Change: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5713 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
96% (52/54) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
| Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
| Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
| Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
| Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
| Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
| Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
| Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
| Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
| Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
| Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
| Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
| Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
| Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
| Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
| Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
probably benign |
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 |
|
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'- ATAGTCCTGGGTTCAGTTTCCTAGC -3'
(R):5'- TTCAAATGCACATGACCTTACC -3'
Sequencing Primer
(F):5'- CAGGAAGAATGTATCAAGTGCCCC -3'
(R):5'- GCAAACTACCTTATGCAGTGAATGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation