Incidental Mutation 'IGL02313:Sdccag8'
| ID |
287900 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdccag8
|
| Ensembl Gene |
ENSMUSG00000026504 |
| Gene Name |
serologically defined colon cancer antigen 8 |
| Synonyms |
CCCAP, 2700048G21Rik, 5730470G24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
176642226-176848003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 176652321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 24
(R24H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027785]
[ENSMUST00000056773]
[ENSMUST00000123409]
|
| AlphaFold |
Q80UF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027785
AA Change: R24H
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: R24H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCCAP
|
6 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056773
AA Change: R24H
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504
AA Change: R24H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
103 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
240 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123409
AA Change: R24H
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
AA Change: R24H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
132 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
307 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150429
|
| 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 centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygotes for a null allele show postnatal lethality, cleft palate, polydactyly, enlarged lateral ventricles and impaired neuronal migration. Homozygotes for a gene trap allele show late-onset nephronophthisis associated with renal cysts and fibrosis, and retinal degeneration leading to blindness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13c |
T |
A |
3: 157,653,571 (GRCm39) |
N136K |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,697,955 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,583,718 (GRCm39) |
K1250E |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,857,160 (GRCm39) |
N400S |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,462,126 (GRCm39) |
S630Y |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,807,595 (GRCm39) |
E1873V |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,761,236 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,739,328 (GRCm39) |
L907P |
probably damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,770 (GRCm39) |
N264S |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,414,752 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dgkg |
A |
G |
16: 22,388,980 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
G |
14: 67,061,839 (GRCm39) |
M256L |
probably benign |
Het |
| Dsp |
G |
T |
13: 38,380,499 (GRCm39) |
E1816* |
probably null |
Het |
| Fam13b |
T |
C |
18: 34,587,709 (GRCm39) |
K530E |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,648,090 (GRCm39) |
H242R |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,166,420 (GRCm39) |
H145Q |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,669,718 (GRCm39) |
L910P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,617 (GRCm39) |
T4642A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,235,700 (GRCm39) |
T167A |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,111 (GRCm39) |
L690P |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,439,865 (GRCm39) |
|
probably null |
Het |
| Krt31 |
A |
G |
11: 99,939,222 (GRCm39) |
Y232H |
probably damaging |
Het |
| Lsm3 |
A |
G |
6: 91,493,070 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
T |
A |
4: 147,969,947 (GRCm39) |
I375F |
probably damaging |
Het |
| Mfrp |
A |
T |
9: 44,014,171 (GRCm39) |
I180F |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,485,820 (GRCm39) |
E168G |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,108 (GRCm39) |
V77D |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,208,521 (GRCm39) |
S1570P |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,055,504 (GRCm39) |
R305G |
possibly damaging |
Het |
| Numa1 |
C |
T |
7: 101,649,439 (GRCm39) |
R1057* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,030,099 (GRCm39) |
A271T |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,400 (GRCm39) |
V965A |
probably damaging |
Het |
| Or10h28 |
C |
A |
17: 33,488,639 (GRCm39) |
Q314K |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,473 (GRCm39) |
V273E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,772 (GRCm39) |
L53P |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,671 (GRCm39) |
N140I |
probably damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,362 (GRCm39) |
I109F |
probably damaging |
Het |
| Pdp2 |
A |
T |
8: 105,321,531 (GRCm39) |
Q460L |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,047,141 (GRCm39) |
T270A |
probably benign |
Het |
| Pkp4 |
C |
T |
2: 59,140,598 (GRCm39) |
Q435* |
probably null |
Het |
| Prss32 |
G |
A |
17: 24,075,096 (GRCm39) |
V149M |
probably benign |
Het |
| Riox2 |
C |
A |
16: 59,309,780 (GRCm39) |
P378Q |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,781,521 (GRCm39) |
S124T |
possibly damaging |
Het |
| Slc22a1 |
C |
A |
17: 12,894,387 (GRCm39) |
G54* |
probably null |
Het |
| Slc24a5 |
C |
T |
2: 124,927,567 (GRCm39) |
|
probably benign |
Het |
| Tex101 |
C |
T |
7: 24,367,750 (GRCm39) |
V201M |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,956 (GRCm39) |
Y223C |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,492,388 (GRCm39) |
E382G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,223,565 (GRCm39) |
Y575N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,376 (GRCm39) |
I259V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,227,065 (GRCm39) |
N131K |
probably damaging |
Het |
| Zfp579 |
C |
T |
7: 4,997,432 (GRCm39) |
V160M |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,332,766 (GRCm39) |
D64G |
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,611,678 (GRCm39) |
T16A |
possibly damaging |
Het |
|
| Other mutations in Sdccag8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Sdccag8
|
APN |
1 |
176,705,568 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01446:Sdccag8
|
APN |
1 |
176,672,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Sdccag8
|
APN |
1 |
176,672,873 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02179:Sdccag8
|
APN |
1 |
176,705,622 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02962:Sdccag8
|
APN |
1 |
176,775,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Sdccag8
|
UTSW |
1 |
176,672,387 (GRCm39) |
splice site |
probably null |
|
|
R0762:Sdccag8
|
UTSW |
1 |
176,773,710 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1928:Sdccag8
|
UTSW |
1 |
176,656,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Sdccag8
|
UTSW |
1 |
176,783,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Sdccag8
|
UTSW |
1 |
176,747,207 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2964:Sdccag8
|
UTSW |
1 |
176,775,937 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3800:Sdccag8
|
UTSW |
1 |
176,695,904 (GRCm39) |
nonsense |
probably null |
|
|
R3853:Sdccag8
|
UTSW |
1 |
176,681,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Sdccag8
|
UTSW |
1 |
176,695,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4590:Sdccag8
|
UTSW |
1 |
176,775,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Sdccag8
|
UTSW |
1 |
176,839,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5083:Sdccag8
|
UTSW |
1 |
176,652,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Sdccag8
|
UTSW |
1 |
176,672,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Sdccag8
|
UTSW |
1 |
176,653,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5740:Sdccag8
|
UTSW |
1 |
176,658,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5898:Sdccag8
|
UTSW |
1 |
176,652,388 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6435:Sdccag8
|
UTSW |
1 |
176,642,428 (GRCm39) |
unclassified |
probably benign |
|
|
R6624:Sdccag8
|
UTSW |
1 |
176,702,378 (GRCm39) |
splice site |
probably null |
|
|
R6763:Sdccag8
|
UTSW |
1 |
176,682,193 (GRCm39) |
splice site |
probably null |
|
|
R6877:Sdccag8
|
UTSW |
1 |
176,839,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Sdccag8
|
UTSW |
1 |
176,702,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Sdccag8
|
UTSW |
1 |
176,695,856 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7393:Sdccag8
|
UTSW |
1 |
176,667,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8715:Sdccag8
|
UTSW |
1 |
176,773,803 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8828:Sdccag8
|
UTSW |
1 |
176,783,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Sdccag8
|
UTSW |
1 |
176,783,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Sdccag8
|
UTSW |
1 |
176,652,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9577:Sdccag8
|
UTSW |
1 |
176,658,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Sdccag8
|
UTSW |
1 |
176,747,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sdccag8
|
UTSW |
1 |
176,695,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation