Incidental Mutation 'R6804:Spocd1'
| ID |
533477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spocd1
|
| Ensembl Gene |
ENSMUSG00000028784 |
| Gene Name |
SPOC domain containing 1 |
| Synonyms |
OTTMUSG00000009522 |
| MMRRC Submission |
044917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129823042-129850908 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 129847423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 537
(C537*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084263]
[ENSMUST00000128007]
|
| AlphaFold |
B1ASB6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084263
AA Change: C537*
|
| SMART Domains |
Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: C537*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,343,757 (GRCm39) |
Q480L |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,303,792 (GRCm39) |
D72E |
probably benign |
Het |
| Avil |
C |
T |
10: 126,844,175 (GRCm39) |
Q245* |
probably null |
Het |
| BC048679 |
T |
C |
7: 81,146,612 (GRCm39) |
S2G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,773,622 (GRCm39) |
T1723A |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,152,604 (GRCm39) |
D202G |
probably damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,495 (GRCm39) |
Y56* |
probably null |
Het |
| Clec2i |
A |
G |
6: 128,872,384 (GRCm39) |
E172G |
probably damaging |
Het |
| Crybg1 |
C |
T |
10: 43,842,337 (GRCm39) |
D1785N |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,087,260 (GRCm39) |
R1930W |
probably damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,371 (GRCm39) |
S2019A |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,525,512 (GRCm39) |
Y1445* |
probably null |
Het |
| Gne |
A |
G |
4: 44,060,210 (GRCm39) |
I61T |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,947 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Kplce |
T |
C |
3: 92,776,354 (GRCm39) |
T110A |
possibly damaging |
Het |
| Llgl2 |
A |
G |
11: 115,734,141 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,239,376 (GRCm39) |
I417V |
probably benign |
Het |
| Mettl21e |
T |
A |
1: 44,257,295 (GRCm39) |
I8F |
probably benign |
Het |
| Ms4a2 |
A |
G |
19: 11,594,899 (GRCm39) |
Y183H |
probably damaging |
Het |
| Naip6 |
C |
G |
13: 100,435,675 (GRCm39) |
E949D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,994,874 (GRCm39) |
T181A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,916,328 (GRCm39) |
Y400F |
probably benign |
Het |
| Or12d2 |
A |
G |
17: 37,625,021 (GRCm39) |
S85P |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,240 (GRCm39) |
V237A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,852 (GRCm39) |
T132S |
probably benign |
Het |
| Or2y1e |
A |
G |
11: 49,218,808 (GRCm39) |
D190G |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,438 (GRCm39) |
S358G |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,700,564 (GRCm39) |
E259* |
probably null |
Het |
| Phlpp2 |
T |
A |
8: 110,655,197 (GRCm39) |
L664Q |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,390,635 (GRCm39) |
K1262R |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
GGCTTGCACGCCGT |
G |
7: 46,349,064 (GRCm39) |
|
probably null |
Het |
| Sec31a |
C |
T |
5: 100,530,671 (GRCm39) |
V701I |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,729,286 (GRCm39) |
R12S |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,161 (GRCm39) |
E701G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,923,028 (GRCm39) |
Y32C |
possibly damaging |
Het |
| Tfeb |
T |
C |
17: 48,100,735 (GRCm39) |
|
probably null |
Het |
| Ttc13 |
C |
A |
8: 125,426,426 (GRCm39) |
R168L |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,350 (GRCm39) |
N385Y |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,363,792 (GRCm39) |
K367R |
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 |
|
|
R6412:Spocd1
|
UTSW |
4 |
129,847,365 (GRCm39) |
missense |
probably benign |
0.44 |
|
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'- TCTACATATAGAGGGCTCCTGATC -3'
(R):5'- GGATTTCCGATCTGCAAAGAGC -3'
Sequencing Primer
(F):5'- CATATAGAGGGCTCCTGATCTTCATG -3'
(R):5'- GCAAGAACTGAACTGTGTATGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation