Incidental Mutation 'R1399:Spopfm1'
ID |
160287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spopfm1
|
Ensembl Gene |
ENSMUSG00000089696 |
Gene Name |
speckle-type BTB/POZ protein family member 1 |
Synonyms |
Gm4778 |
MMRRC Submission |
039461-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.848)
|
Stock # |
R1399 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94171343-94174091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94173102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 37
(M37V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098878]
[ENSMUST00000159517]
|
AlphaFold |
L7N229 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098878
AA Change: M37V
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000096477 Gene: ENSMUSG00000089696 AA Change: M37V
Domain | Start | End | E-Value | Type |
MATH
|
25 |
134 |
6.01e-8 |
SMART |
BTB
|
192 |
291 |
7.66e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159517
AA Change: M33V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000123868 Gene: ENSMUSG00000089696 AA Change: M33V
Domain | Start | End | E-Value | Type |
MATH
|
21 |
130 |
6.01e-8 |
SMART |
BTB
|
188 |
287 |
7.66e-26 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
T |
C |
10: 80,177,042 (GRCm39) |
S469G |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,100,471 (GRCm39) |
T209I |
possibly damaging |
Het |
Cep170 |
C |
T |
1: 176,585,969 (GRCm39) |
E608K |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,028,982 (GRCm39) |
V45A |
probably damaging |
Het |
Eng |
C |
A |
2: 32,563,334 (GRCm39) |
Q297K |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
G6pd2 |
G |
A |
5: 61,967,361 (GRCm39) |
D379N |
probably benign |
Het |
Mrc1 |
C |
T |
2: 14,284,736 (GRCm39) |
T575M |
probably damaging |
Het |
Noct |
C |
T |
3: 51,157,897 (GRCm39) |
|
probably null |
Het |
Phka1 |
A |
G |
X: 101,660,964 (GRCm39) |
S226P |
probably damaging |
Het |
Pias4 |
T |
C |
10: 80,991,509 (GRCm39) |
Y346C |
probably damaging |
Het |
Ptger4 |
C |
T |
15: 5,264,412 (GRCm39) |
E415K |
possibly damaging |
Het |
Pwwp4b |
A |
G |
X: 72,182,235 (GRCm39) |
L287P |
probably damaging |
Het |
Rb1cc1 |
G |
A |
1: 6,320,042 (GRCm39) |
V1154I |
probably benign |
Het |
Vmn2r121 |
A |
C |
X: 123,039,545 (GRCm39) |
V541G |
possibly damaging |
Het |
Zfp92 |
A |
T |
X: 72,466,401 (GRCm39) |
T465S |
probably benign |
Het |
Zfp92 |
A |
G |
X: 72,465,736 (GRCm39) |
H243R |
probably damaging |
Het |
|
Other mutations in Spopfm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01767:Spopfm1
|
APN |
3 |
94,173,791 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02032:Spopfm1
|
APN |
3 |
94,173,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02694:Spopfm1
|
APN |
3 |
94,173,459 (GRCm39) |
missense |
probably benign |
|
IGL03171:Spopfm1
|
APN |
3 |
94,173,762 (GRCm39) |
missense |
probably benign |
0.00 |
R0195:Spopfm1
|
UTSW |
3 |
94,173,229 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0739:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1064:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1149:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1149:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1150:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1152:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1284:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1286:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1287:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1349:Spopfm1
|
UTSW |
3 |
94,173,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1358:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1372:Spopfm1
|
UTSW |
3 |
94,173,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1383:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
R1756:Spopfm1
|
UTSW |
3 |
94,173,525 (GRCm39) |
missense |
probably benign |
|
R1996:Spopfm1
|
UTSW |
3 |
94,173,018 (GRCm39) |
missense |
probably benign |
0.00 |
R2679:Spopfm1
|
UTSW |
3 |
94,173,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Spopfm1
|
UTSW |
3 |
94,173,787 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5108:Spopfm1
|
UTSW |
3 |
94,173,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R5706:Spopfm1
|
UTSW |
3 |
94,173,959 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6251:Spopfm1
|
UTSW |
3 |
94,173,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R6928:Spopfm1
|
UTSW |
3 |
94,173,855 (GRCm39) |
missense |
probably benign |
0.31 |
R7091:Spopfm1
|
UTSW |
3 |
94,173,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7264:Spopfm1
|
UTSW |
3 |
94,173,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7503:Spopfm1
|
UTSW |
3 |
94,173,780 (GRCm39) |
missense |
probably benign |
0.29 |
R7595:Spopfm1
|
UTSW |
3 |
94,173,985 (GRCm39) |
missense |
probably benign |
0.00 |
R7867:Spopfm1
|
UTSW |
3 |
94,173,154 (GRCm39) |
missense |
probably benign |
0.25 |
R8338:Spopfm1
|
UTSW |
3 |
94,173,285 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8525:Spopfm1
|
UTSW |
3 |
94,173,862 (GRCm39) |
missense |
probably benign |
0.33 |
R9069:Spopfm1
|
UTSW |
3 |
94,173,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9239:Spopfm1
|
UTSW |
3 |
94,173,871 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAGAGGGAGATTTAAAACTCACCAT -3'
(R):5'- CTCACCTGGCAGCAGAGGGTA -3'
Sequencing Primer
(F):5'- TGGGGAAATTTAGGAGAAATTGACAC -3'
(R):5'- GAAAGCTAACGACTTTCGTGCTC -3'
|
Posted On |
2014-03-14 |