Incidental Mutation 'IGL03171:Spopfm1'
| ID |
411825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spopfm1
|
| Ensembl Gene |
ENSMUSG00000089696 |
| Gene Name |
speckle-type BTB/POZ protein family member 1 |
| Synonyms |
Gm4778 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94171343-94174091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94173762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 257
(H257N)
|
| 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: H257N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: H257N
| 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: H253N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: H253N
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
21 |
130 |
6.01e-8 |
SMART |
|
BTB
|
188 |
287 |
7.66e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,018,622 (GRCm39) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,604 (GRCm39) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,761,638 (GRCm39) |
T147A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spata31e4 |
T |
A |
13: 50,856,388 (GRCm39) |
S675R |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation