Incidental Mutation 'R6955:Sfmbt1'
| ID |
541427 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30436806-30544678 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 30487991 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 benign
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 benign
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 benign
Transcript: ENSMUST00000227201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228006
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
| Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
| Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
| Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
| Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
| Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
| Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
| Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
| Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
| Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
| Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
| Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
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 |
|
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'- TCTCAACCCAGTCAAATGCTG -3'
(R):5'- AGTAGTGTAGTCCCTAGTGCCAAG -3'
Sequencing Primer
(F):5'- CAACCCAGTCAAATGCTGTCTTATG -3'
(R):5'- TAGTGCCAAGTTGTAACGCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation