Mutagenetix > Incidental Mutations

Incidental Mutation 'R5898:Sdccag8'

457627

Institutional Source

Beutler Lab

Gene Symbol

Sdccag8

Ensembl Gene

ENSMUSG00000026504

Gene Name

serologically defined colon cancer antigen 8

Synonyms

CCCAP, 2700048G21Rik, 5730470G24Rik

MMRRC Submission

044097-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

176814660-177020437 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 176824822 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 46 (D46E)

Ref Sequence

ENSEMBL: ENSMUSP00000137948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027785] [ENSMUST00000056773] [ENSMUST00000123409]

Predicted Effect

probably benign
Transcript: ENSMUST00000027785
AA Change: D46E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: D46E

Domain	Start	End	E-Value	Type
Pfam:CCCAP	6	710	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056773
AA Change: D46E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504
AA Change: D46E

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

probably benign
Transcript: ENSMUST00000123409
AA Change: D46E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
AA Change: D46E

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

Meta Mutation Damage Score

0.1268

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,612,900	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,615,208	M179I	probably benign	Het
5430419D17Rik	T	G	7: 131,241,967		probably null	Het
Abhd12	T	C	2: 150,839,778	I231V	possibly damaging	Het
Adsl	A	G	15: 80,961,353		probably null	Het
Ahnak	C	A	19: 9,013,767	N4138K	possibly damaging	Het
Ahnak	T	C	19: 9,018,211	S5620P	probably damaging	Het
Akap13	C	T	7: 75,729,146	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,307,623	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,580,773	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,186,272	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,958	I48V	probably benign	Het
BC051665	A	C	13: 60,782,704	V278G	probably damaging	Het
Bicd1	A	T	6: 149,513,703	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,274,231	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,144,538	R496L	probably benign	Het
Cep44	C	G	8: 56,541,021	V174L	probably damaging	Het
Clca1	G	T	3: 145,016,761	F283L	possibly damaging	Het
Csk	T	C	9: 57,630,302	T110A	probably benign	Het
Cspg4	T	A	9: 56,885,222		probably null	Het
Cutc	A	G	19: 43,760,029	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,455,524	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,577,714	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,204,657		probably null	Het
Dcaf15	G	T	8: 84,098,452	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,602,668	I723K	probably damaging	Het
Dnah17	C	T	11: 118,114,213	A782T	probably benign	Het
Dnah3	T	C	7: 120,078,501	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717	N909S	probably benign	Het
Erbin	A	G	13: 103,839,305		probably null	Het
Fanci	G	A	7: 79,433,321	V682I	probably benign	Het
Fap	A	T	2: 62,573,503	F9L	probably benign	Het
Fat3	T	C	9: 15,938,461	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,326,057		probably null	Het
Fsd2	T	C	7: 81,537,227	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,950,261		noncoding transcript	Het
Gramd4	G	T	15: 86,100,784	G82V	probably damaging	Het
Hc	C	T	2: 34,997,437	V1352I	probably benign	Het
Hsph1	A	T	5: 149,625,158	N466K	probably damaging	Het
Ice2	T	A	9: 69,408,262	D133E	probably benign	Het
Ifi213	T	C	1: 173,568,979	M510V	probably benign	Het
Itpkb	T	G	1: 180,421,315	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476	D283E	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Masp1	T	A	16: 23,491,927	I252F	probably damaging	Het
Megf11	G	T	9: 64,685,964	C586F	probably damaging	Het
Myh2	C	A	11: 67,192,719	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,802,330		probably null	Het
Naip6	A	T	13: 100,299,321	V898E	possibly damaging	Het
Nav1	T	C	1: 135,585,146	M59V	probably benign	Het
Nlrp3	A	T	11: 59,546,852	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,357,484	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,422,965	W269R	probably damaging	Het
Peak1	T	A	9: 56,207,338	T1440S	probably benign	Het
Piezo1	A	G	8: 122,487,943	V1547A	probably benign	Het
Pkp1	T	C	1: 135,882,521	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,422,760	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,744,162		probably benign	Het
Prrg4	C	T	2: 104,845,033	S75N	probably benign	Het
Psmb9	T	A	17: 34,182,292	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,161,965	L23*	probably null	Het
Sbno1	A	T	5: 124,386,791		probably benign	Het
Scn3a	T	C	2: 65,514,695	E483G	probably damaging	Het
Selenov	A	G	7: 28,288,154	F293L	probably damaging	Het
Sept2	A	C	1: 93,479,301	D20A	probably benign	Het
Shc1	T	A	3: 89,426,967	Y313*	probably null	Het
Siglec1	T	A	2: 131,073,633	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,873,733	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,544,760	N152S	probably damaging	Het
Smoc1	C	T	12: 81,104,757	R83*	probably null	Het
Ssx2ip	A	G	3: 146,427,831	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,617,372	D576G	probably damaging	Het
Tbx20	T	A	9: 24,758,859	Y226F	probably damaging	Het
Trav10d	G	T	14: 52,811,472	A107S	probably damaging	Het
Trim60	A	T	8: 65,000,364	L411*	probably null	Het
Ttbk2	A	T	2: 120,745,040	V1083D	probably benign	Het
Unc93a	T	A	17: 13,125,577	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819	N65I	possibly damaging	Het
Vip	A	T	10: 5,643,988	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,314,551	I179F	probably damaging	Het
Wdr47	T	A	3: 108,637,885		probably null	Het
Zfp975	A	T	7: 42,662,539	C217S	probably damaging	Het

Other mutations in Sdccag8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Sdccag8	APN	1	176878002	missense	possibly damaging	0.67
IGL01446:Sdccag8	APN	1	176845245	missense	probably damaging	1.00
IGL01794:Sdccag8	APN	1	176845307	missense	possibly damaging	0.69
IGL02179:Sdccag8	APN	1	176878056	missense	probably benign	0.19
IGL02313:Sdccag8	APN	1	176824755	missense	possibly damaging	0.48
IGL02962:Sdccag8	APN	1	176948362	missense	probably damaging	1.00
R0433:Sdccag8	UTSW	1	176844821	splice site	probably null
R0762:Sdccag8	UTSW	1	176946144	missense	probably benign	0.05
R1928:Sdccag8	UTSW	1	176828970	missense	probably damaging	1.00
R2132:Sdccag8	UTSW	1	176955889	missense	probably damaging	1.00
R2342:Sdccag8	UTSW	1	176919641	missense	probably benign	0.26
R2964:Sdccag8	UTSW	1	176948371	missense	possibly damaging	0.93
R3800:Sdccag8	UTSW	1	176868338	nonsense	probably null
R3853:Sdccag8	UTSW	1	176853795	missense	probably damaging	1.00
R4409:Sdccag8	UTSW	1	176868366	critical splice donor site	probably null
R4590:Sdccag8	UTSW	1	176948292	missense	probably damaging	1.00
R5036:Sdccag8	UTSW	1	177011975	missense	probably damaging	0.99
R5083:Sdccag8	UTSW	1	176824892	missense	probably damaging	1.00
R5174:Sdccag8	UTSW	1	176845350	missense	probably damaging	0.99
R5739:Sdccag8	UTSW	1	176826231	missense	probably benign	0.00
R5740:Sdccag8	UTSW	1	176831150	missense	probably benign	0.02
R6435:Sdccag8	UTSW	1	176814862	unclassified	probably benign
R6624:Sdccag8	UTSW	1	176874812	splice site	probably null
R6763:Sdccag8	UTSW	1	176854627	splice site	probably null
R6877:Sdccag8	UTSW	1	177011935	missense	probably damaging	1.00
R7130:Sdccag8	UTSW	1	176874601	missense	probably damaging	0.97
R7331:Sdccag8	UTSW	1	176868290	missense	possibly damaging	0.91
R7393:Sdccag8	UTSW	1	176840306	missense	probably benign	0.00
X0024:Sdccag8	UTSW	1	176919629	missense	probably damaging	1.00
Z1176:Sdccag8	UTSW	1	176868231	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCCAAGTCTAATTTCTAGCTGG -3'
(R):5'- AGCAGTAGAGTGGCCAACTG -3'

Sequencing Primer
(F):5'- AGTTCTGCTCTGGGCCATAAG -3'
(R):5'- CCAACTGGGCGGAGGGAAG -3'

Posted On

2017-02-15