Incidental Mutation 'R6412:Spocd1'
| ID |
514620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spocd1
|
| Ensembl Gene |
ENSMUSG00000028784 |
| Gene Name |
SPOC domain containing 1 |
| Synonyms |
OTTMUSG00000009522 |
| MMRRC Submission |
044385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129823042-129850908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129847365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 518
(S518L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084263]
[ENSMUST00000128007]
|
| AlphaFold |
B1ASB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084263
AA Change: S518L
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: S518L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,116 (GRCm39) |
I480V |
probably benign |
Het |
| BC025920 |
T |
C |
10: 81,445,195 (GRCm39) |
V106A |
probably benign |
Het |
| Bhlhe23 |
A |
G |
2: 180,417,963 (GRCm39) |
F192L |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,285,603 (GRCm39) |
T1137I |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,504 (GRCm39) |
M112V |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,047,258 (GRCm39) |
S53P |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,715 (GRCm39) |
M160L |
probably damaging |
Het |
| Gm3264 |
A |
G |
14: 16,058,238 (GRCm39) |
K81R |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,857,819 (GRCm39) |
N141S |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,929 (GRCm39) |
S425G |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,638 (GRCm39) |
E64G |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,255,455 (GRCm39) |
T196A |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,707,794 (GRCm39) |
S61P |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,202 (GRCm39) |
A239D |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,693 (GRCm39) |
L181Q |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,865 (GRCm39) |
V759A |
probably damaging |
Het |
| Ret |
C |
T |
6: 118,161,245 (GRCm39) |
R77H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sbno1 |
T |
C |
5: 124,530,777 (GRCm39) |
T840A |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,059,276 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,897,339 (GRCm39) |
L723R |
probably damaging |
Het |
| Vmn1r223 |
G |
T |
13: 23,433,825 (GRCm39) |
V140F |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,904,936 (GRCm39) |
V301A |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,656,279 (GRCm39) |
F2615L |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,341,989 (GRCm39) |
P1093T |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,242,902 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,138 (GRCm39) |
P379T |
probably benign |
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 |
|
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 |
|
|
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'- CAGTGTACCAACCATTGTCTGAAC -3'
(R):5'- CTGCTGCTTACAAACCCAGC -3'
Sequencing Primer
(F):5'- CTGAACAAATGGTGGGTTTTATTTAC -3'
(R):5'- GCTACCCACCCACGTTGTAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation