Incidental Mutation 'R1383:Spopfm1'
| ID |
163127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spopfm1
|
| Ensembl Gene |
ENSMUSG00000089696 |
| Gene Name |
speckle-type BTB/POZ protein family member 1 |
| Synonyms |
Gm4778 |
| MMRRC Submission |
039445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R1383 (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: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
T |
A |
4: 9,537,807 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eef1akmt1 |
A |
G |
14: 57,795,489 (GRCm39) |
|
probably null |
Het |
| Ext2 |
T |
C |
2: 93,636,458 (GRCm39) |
T219A |
possibly damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,201,599 (GRCm39) |
H492Y |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
G |
6: 72,826,565 (GRCm39) |
F155L |
possibly damaging |
Het |
| Miox |
G |
A |
15: 89,219,245 (GRCm39) |
R29Q |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,306 (GRCm39) |
Y529C |
probably damaging |
Het |
| Msmo1 |
G |
A |
8: 65,176,679 (GRCm39) |
T116I |
probably benign |
Het |
| Or4c12 |
A |
T |
2: 89,773,895 (GRCm39) |
M188K |
probably benign |
Het |
| Or5aq1b |
A |
G |
2: 86,902,136 (GRCm39) |
L114P |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,160 (GRCm39) |
K20N |
probably benign |
Het |
| Or8k40 |
C |
T |
2: 86,584,838 (GRCm39) |
M81I |
possibly damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,698,856 (GRCm39) |
I486T |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,355,357 (GRCm39) |
F58L |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,331 (GRCm39) |
I525T |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Znrf3 |
G |
C |
11: 5,231,994 (GRCm39) |
F410L |
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 |
|
R1399: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'- TCACCTGGCAGCAGAGGGTAA -3'
Sequencing Primer
(F):5'- TGGGGAAATTTAGGAGAAATTGACAC -3'
(R):5'- GAAAGCTAACGACTTTCGTGCTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation