Incidental Mutation 'R0939:Spocd1'
| ID |
81291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spocd1
|
| Ensembl Gene |
ENSMUSG00000028784 |
| Gene Name |
SPOC domain containing 1 |
| Synonyms |
OTTMUSG00000009522 |
| MMRRC Submission |
039078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129823042-129850908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129842663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 26
(D26V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084263]
[ENSMUST00000128007]
|
| AlphaFold |
B1ASB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084263
AA Change: D382V
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: D382V
| 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 |
possibly damaging
Transcript: ENSMUST00000128007
AA Change: D26V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784
AA Change: D26V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIS_M
|
5 |
113 |
3.6e-28 |
PFAM |
|
Blast:PAC
|
129 |
157 |
6e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,438,801 (GRCm39) |
D326G |
probably null |
Het |
| Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
| Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
| Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
| Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Or10a3b |
T |
A |
7: 108,444,440 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
| Prss1 |
A |
C |
6: 41,440,522 (GRCm39) |
D199A |
probably damaging |
Het |
| Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
| Slfn5 |
G |
T |
11: 82,852,164 (GRCm39) |
M763I |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
| Ssh1 |
A |
G |
5: 114,108,497 (GRCm39) |
L50P |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
possibly 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 |
|
R1128:Spocd1
|
UTSW |
4 |
129,850,599 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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'- ATCTTCTGCACAGAGCAAGGGC -3'
(R):5'- TTTTCCAAACCTGCGGTTGGGC -3'
Sequencing Primer
(F):5'- GCAGGAGTCAACAGGTCC -3'
(R):5'- ACAACATTTCGGGGATCTCG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation