Incidental Mutation 'R9226:Sfmbt2'
| ID |
699838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfmbt2
|
| Ensembl Gene |
ENSMUSG00000061186 |
| Gene Name |
Scm-like with four mbt domains 2 |
| Synonyms |
D330030P06Rik, D2Wsu23e |
| MMRRC Submission |
068960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10442860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 179
(I179T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000114861]
[ENSMUST00000114862]
[ENSMUST00000114864]
[ENSMUST00000116594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041105
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
MBT
|
151 |
255 |
2.03e-35 |
SMART |
|
MBT
|
265 |
371 |
3.6e-27 |
SMART |
|
MBT
|
379 |
475 |
4.15e-41 |
SMART |
|
Pfam:DUF3588
|
528 |
643 |
1.4e-37 |
PFAM |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
869 |
N/A |
INTRINSIC |
|
SAM
|
902 |
968 |
1.12e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114861
AA Change: I179T
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114862
AA Change: I179T
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114864
AA Change: I179T
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116594
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
MBT
|
151 |
255 |
2.03e-35 |
SMART |
|
MBT
|
265 |
371 |
3.6e-27 |
SMART |
|
MBT
|
379 |
475 |
4.15e-41 |
SMART |
|
Pfam:DUF3588
|
527 |
646 |
2.9e-40 |
PFAM |
|
low complexity region
|
657 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
722 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
725 |
744 |
1.3e-5 |
PROSPERO |
|
internal_repeat_2
|
745 |
764 |
1.3e-5 |
PROSPERO |
|
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
|
SAM
|
869 |
935 |
1.12e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,518 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrf4 |
C |
A |
17: 42,980,606 (GRCm39) |
A160S |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
| Adgrl4 |
G |
T |
3: 151,198,064 (GRCm39) |
|
probably null |
Het |
| Alg8 |
A |
G |
7: 97,027,423 (GRCm39) |
Y97C |
probably damaging |
Het |
| Ankrd12 |
T |
A |
17: 66,292,754 (GRCm39) |
D893V |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,791 (GRCm39) |
T385S |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,365 (GRCm39) |
C259S |
probably damaging |
Het |
| Ccer2 |
T |
C |
7: 28,456,561 (GRCm39) |
S102P |
possibly damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,132,320 (GRCm39) |
F101S |
probably damaging |
Het |
| Ctdsp1 |
G |
T |
1: 74,434,735 (GRCm39) |
G260W |
probably damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,277 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,901 (GRCm39) |
D53G |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,560,326 (GRCm39) |
I2115S |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,683,006 (GRCm39) |
F192L |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,317,839 (GRCm39) |
V1441A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,073 (GRCm39) |
C41S |
probably damaging |
Het |
| Lgalsl |
A |
T |
11: 20,779,306 (GRCm39) |
I113N |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,401,460 (GRCm39) |
D398G |
|
Het |
| Lrrc4b |
A |
G |
7: 44,112,099 (GRCm39) |
H657R |
possibly damaging |
Het |
| Map2k2 |
T |
C |
10: 80,955,193 (GRCm39) |
V228A |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,694,612 (GRCm39) |
I1112V |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,068,692 (GRCm39) |
M488K |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,750,924 (GRCm39) |
T565A |
|
Het |
| Nfat5 |
T |
C |
8: 108,095,401 (GRCm39) |
L1214P |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,885,328 (GRCm39) |
T223A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,187 (GRCm39) |
I199V |
probably benign |
Het |
| Or52s19 |
A |
G |
7: 103,008,092 (GRCm39) |
M103T |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,709 (GRCm39) |
R939W |
probably damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,059,671 (GRCm39) |
C3R |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,524 (GRCm39) |
I1803N |
probably damaging |
Het |
| Pygb |
C |
A |
2: 150,662,781 (GRCm39) |
H583N |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,839,645 (GRCm39) |
D878G |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,992,468 (GRCm39) |
Q414K |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,169,233 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,097,222 (GRCm39) |
Y361C |
probably damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,748,960 (GRCm39) |
V567M |
possibly damaging |
Het |
| Sirt4 |
G |
A |
5: 115,618,372 (GRCm39) |
T234M |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,867,812 (GRCm39) |
K1653Q |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,559,722 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,076,206 (GRCm39) |
S280I |
probably damaging |
Het |
| Tex30 |
G |
A |
1: 44,126,133 (GRCm39) |
R199W |
probably damaging |
Het |
| Tjp3 |
A |
C |
10: 81,110,420 (GRCm39) |
F731V |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,360,143 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
A |
11: 115,683,191 (GRCm39) |
A658E |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,904,766 (GRCm39) |
L1177Q |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,051,845 (GRCm39) |
V1169D |
unknown |
Het |
| Usp20 |
C |
A |
2: 30,907,412 (GRCm39) |
A648D |
probably damaging |
Het |
| Vmn2r108 |
T |
G |
17: 20,691,330 (GRCm39) |
N398H |
probably benign |
Het |
| Whamm |
A |
T |
7: 81,243,655 (GRCm39) |
S626C |
probably damaging |
Het |
| Zbtb44 |
A |
G |
9: 30,975,524 (GRCm39) |
S385G |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,137 (GRCm39) |
Q166* |
probably null |
Het |
|
| Other mutations in Sfmbt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Sfmbt2
|
APN |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01294:Sfmbt2
|
APN |
2 |
10,595,232 (GRCm39) |
splice site |
probably benign |
|
|
IGL01503:Sfmbt2
|
APN |
2 |
10,584,165 (GRCm39) |
nonsense |
probably null |
|
|
IGL01996:Sfmbt2
|
APN |
2 |
10,444,837 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02071:Sfmbt2
|
APN |
2 |
10,582,763 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02440:Sfmbt2
|
APN |
2 |
10,573,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Sfmbt2
|
APN |
2 |
10,406,842 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03213:Sfmbt2
|
APN |
2 |
10,409,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03325:Sfmbt2
|
APN |
2 |
10,582,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Supermarket
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
3-1:Sfmbt2
|
UTSW |
2 |
10,409,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D605:Sfmbt2
|
UTSW |
2 |
10,584,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0919:Sfmbt2
|
UTSW |
2 |
10,582,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1180:Sfmbt2
|
UTSW |
2 |
10,406,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Sfmbt2
|
UTSW |
2 |
10,450,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4208:Sfmbt2
|
UTSW |
2 |
10,547,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Sfmbt2
|
UTSW |
2 |
10,584,069 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4928:Sfmbt2
|
UTSW |
2 |
10,450,556 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5643:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5862:Sfmbt2
|
UTSW |
2 |
10,406,863 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5990:Sfmbt2
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6721:Sfmbt2
|
UTSW |
2 |
10,547,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Sfmbt2
|
UTSW |
2 |
10,584,000 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7133:Sfmbt2
|
UTSW |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Sfmbt2
|
UTSW |
2 |
10,582,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7809:Sfmbt2
|
UTSW |
2 |
10,398,155 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8090:Sfmbt2
|
UTSW |
2 |
10,466,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8181:Sfmbt2
|
UTSW |
2 |
10,580,190 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8346:Sfmbt2
|
UTSW |
2 |
10,466,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Sfmbt2
|
UTSW |
2 |
10,409,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9640:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sfmbt2
|
UTSW |
2 |
10,580,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTCTGCGATGATTTGCC -3'
(R):5'- CTGGCACATGGCTTTAAAATGAACTC -3'
Sequencing Primer
(F):5'- CTGCGATGATTTGCCACTGATG -3'
(R):5'- CATGGCTTTAAAATGAACTCAAACAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation