Incidental Mutation 'IGL02191:Spocd1'
ID |
283853 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spocd1
|
Ensembl Gene |
ENSMUSG00000028784 |
Gene Name |
SPOC domain containing 1 |
Synonyms |
OTTMUSG00000009522 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL02191
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
129823042-129850908 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129847380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 523
(D523G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084263]
[ENSMUST00000128007]
|
AlphaFold |
B1ASB6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084263
AA Change: D523G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081284 Gene: ENSMUSG00000028784 AA Change: D523G
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 |
|
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 |
Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Spocd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
|
Posted On |
2015-04-16 |