Incidental Mutation 'R1128:Spocd1'
| ID |
96385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spocd1
|
| Ensembl Gene |
ENSMUSG00000028784 |
| Gene Name |
SPOC domain containing 1 |
| Synonyms |
OTTMUSG00000009522 |
| MMRRC Submission |
039201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129823042-129850908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129850599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 875
(V875A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084263]
[ENSMUST00000128007]
|
| AlphaFold |
B1ASB6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084263
AA Change: V875A
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: V875A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIS_M
|
1 |
105 |
1.7e-24 |
PFAM |
|
Blast:PAC
|
123 |
163 |
4e-7 |
BLAST |
|
Pfam:SPOC
|
247 |
350 |
1e-22 |
PFAM |
|
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
571 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128007
|
| SMART Domains |
Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIS_M
|
5 |
113 |
3.6e-28 |
PFAM |
|
Blast:PAC
|
129 |
157 |
6e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147634
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Amhr2 |
A |
T |
15: 102,361,256 (GRCm39) |
Q402L |
probably benign |
Het |
| Brip1 |
A |
T |
11: 85,955,763 (GRCm39) |
L917M |
possibly damaging |
Het |
| Dennd5a |
G |
A |
7: 109,520,541 (GRCm39) |
R415* |
probably null |
Het |
| Eif2ak1 |
G |
T |
5: 143,835,994 (GRCm39) |
|
probably null |
Het |
| Golga4 |
G |
A |
9: 118,377,852 (GRCm39) |
A458T |
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Ift88 |
C |
T |
14: 57,754,476 (GRCm39) |
R762* |
probably null |
Het |
| Kansl2 |
A |
T |
15: 98,431,566 (GRCm39) |
C28* |
probably null |
Het |
| Lct |
T |
C |
1: 128,229,046 (GRCm39) |
R816G |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,919,769 (GRCm39) |
N6809S |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,526,990 (GRCm39) |
T662A |
probably benign |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,479 (GRCm39) |
F243S |
probably benign |
Het |
| Rab44 |
T |
C |
17: 29,359,435 (GRCm39) |
V541A |
possibly damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,718,349 (GRCm39) |
H569Q |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,733,832 (GRCm38) |
S87P |
probably damaging |
Het |
| Tspan17 |
A |
G |
13: 54,942,984 (GRCm39) |
D146G |
probably damaging |
Het |
|
| Other mutations in Spocd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Spocd1
|
APN |
4 |
129,847,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02332:Spocd1
|
APN |
4 |
129,842,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Spocd1
|
APN |
4 |
129,841,548 (GRCm39) |
intron |
probably benign |
|
|
R0005:Spocd1
|
UTSW |
4 |
129,850,571 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0499:Spocd1
|
UTSW |
4 |
129,849,263 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0939:Spocd1
|
UTSW |
4 |
129,842,663 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5747:Spocd1
|
UTSW |
4 |
129,848,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Spocd1
|
UTSW |
4 |
129,845,579 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5872:Spocd1
|
UTSW |
4 |
129,850,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5887:Spocd1
|
UTSW |
4 |
129,842,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Spocd1
|
UTSW |
4 |
129,850,242 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6198:Spocd1
|
UTSW |
4 |
129,849,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Spocd1
|
UTSW |
4 |
129,850,901 (GRCm39) |
splice site |
probably null |
|
|
R6412:Spocd1
|
UTSW |
4 |
129,847,365 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6804:Spocd1
|
UTSW |
4 |
129,847,423 (GRCm39) |
nonsense |
probably null |
|
|
R6884:Spocd1
|
UTSW |
4 |
129,849,197 (GRCm39) |
unclassified |
probably benign |
|
|
R6898:Spocd1
|
UTSW |
4 |
129,850,305 (GRCm39) |
unclassified |
probably benign |
|
|
R7090:Spocd1
|
UTSW |
4 |
129,847,691 (GRCm39) |
missense |
|
|
|
R7548:Spocd1
|
UTSW |
4 |
129,823,602 (GRCm39) |
missense |
|
|
|
R7570:Spocd1
|
UTSW |
4 |
129,823,957 (GRCm39) |
missense |
|
|
|
R7657:Spocd1
|
UTSW |
4 |
129,823,535 (GRCm39) |
missense |
|
|
|
R7910:Spocd1
|
UTSW |
4 |
129,823,893 (GRCm39) |
missense |
|
|
|
R8141:Spocd1
|
UTSW |
4 |
129,823,497 (GRCm39) |
missense |
|
|
|
R8557:Spocd1
|
UTSW |
4 |
129,842,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Spocd1
|
UTSW |
4 |
129,823,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8886:Spocd1
|
UTSW |
4 |
129,845,631 (GRCm39) |
missense |
|
|
|
R9463:Spocd1
|
UTSW |
4 |
129,847,398 (GRCm39) |
missense |
|
|
|
R9633:Spocd1
|
UTSW |
4 |
129,850,463 (GRCm39) |
missense |
unknown |
|
|
R9730:Spocd1
|
UTSW |
4 |
129,850,305 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Spocd1
|
UTSW |
4 |
129,849,306 (GRCm39) |
missense |
unknown |
|
|
Z1177:Spocd1
|
UTSW |
4 |
129,823,770 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGACCGTGTCCTTCAGCAAAAG -3'
(R):5'- TCAACACTCATGTTCTGGTGGCTC -3'
Sequencing Primer
(F):5'- TCATCTCCCCTTGAAGAGGAC -3'
(R):5'- CTAAAGGGTCTGACCCCTCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation