Mutagenetix > Incidental Mutation

Incidental Mutation 'R4409:Sdccag8'

327784

Institutional Source

Beutler Lab

Gene Symbol

Sdccag8

Ensembl Gene

ENSMUSG00000026504

Gene Name

serologically defined colon cancer antigen 8

Synonyms

CCCAP, 2700048G21Rik, 5730470G24Rik

MMRRC Submission

041691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

176642226-176848003 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 176695932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027785 (fasta)

Gene Model

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

AlphaFold

Q80UF4

Predicted Effect

probably null
Transcript: ENSMUST00000027785

SMART Domains

Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123409

SMART Domains

Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,447,872 (GRCm39)	S35T	possibly damaging	Het
Abcb5	A	C	12: 118,836,657 (GRCm39)	L1085V	probably damaging	Het
Adgrf5	T	C	17: 43,752,738 (GRCm39)	V560A	probably damaging	Het
Ambp	C	A	4: 63,070,884 (GRCm39)	S65I	probably damaging	Het
Ash1l	A	G	3: 88,914,506 (GRCm39)	D1712G	probably damaging	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Car2	T	A	3: 14,960,162 (GRCm39)	S105T	probably damaging	Het
Casr	A	G	16: 36,320,703 (GRCm39)	C482R	probably benign	Het
Ccdc18	C	T	5: 108,368,708 (GRCm39)	Q1277*	probably null	Het
Clca3a1	A	G	3: 144,711,788 (GRCm39)	F736L	probably damaging	Het
Col6a1	T	C	10: 76,557,334 (GRCm39)	H206R	probably benign	Het
Crybg1	C	T	10: 43,874,754 (GRCm39)	A785T	possibly damaging	Het
Cyp2c68	T	A	19: 39,727,896 (GRCm39)	E85D	probably damaging	Het
Dnah9	T	C	11: 65,976,303 (GRCm39)	S1249G	possibly damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fbxw24	A	T	9: 109,437,256 (GRCm39)	D210E	probably damaging	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Gm10226	G	T	17: 21,910,876 (GRCm39)	C37F	possibly damaging	Het
Greb1l	A	G	18: 10,503,182 (GRCm39)	Y411C	possibly damaging	Het
Grin1	T	C	2: 25,200,451 (GRCm39)	N224D	possibly damaging	Het
H2-T5	T	A	17: 36,476,742 (GRCm39)	H244L	possibly damaging	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Il1rap	G	A	16: 26,531,015 (GRCm39)		probably null	Het
Iqcg	A	G	16: 32,865,888 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,987,944 (GRCm39)	G249E	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Macrod2	T	G	2: 140,260,777 (GRCm39)	H68Q	possibly damaging	Het
Morn4	T	C	19: 42,066,986 (GRCm39)	T2A	possibly damaging	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Msh5	T	C	17: 35,258,226 (GRCm39)	D300G	probably damaging	Het
Myo10	A	G	15: 25,807,955 (GRCm39)	Y1859C	probably damaging	Het
Nacc1	A	G	8: 85,399,673 (GRCm39)	*515Q	probably null	Het
Or1ad6	T	A	11: 50,860,223 (GRCm39)	I126N	probably damaging	Het
Or4n5	T	A	14: 50,133,230 (GRCm39)	T10S	probably benign	Het
Or5g29	T	C	2: 85,421,274 (GRCm39)	L130S	probably damaging	Het
Oxgr1	C	T	14: 120,259,572 (GRCm39)	V212M	possibly damaging	Het
P3h2	G	C	16: 25,924,040 (GRCm39)	R132G	possibly damaging	Het
Pcdha9	T	A	18: 37,132,198 (GRCm39)	H422Q	probably benign	Het
Pcdhga12	A	G	18: 37,901,138 (GRCm39)	T657A	probably damaging	Het
Pcx	A	G	19: 4,660,031 (GRCm39)	K442R	possibly damaging	Het
Pkd2	T	C	5: 104,614,750 (GRCm39)		silent	Het
Plg	T	G	17: 12,609,150 (GRCm39)	C152G	probably damaging	Het
Plk4	A	G	3: 40,760,984 (GRCm39)	E438G	probably damaging	Het
Ryr3	A	G	2: 112,560,653 (GRCm39)	L3016P	probably damaging	Het
Slc24a1	A	T	9: 64,855,506 (GRCm39)	M467K	probably benign	Het
Sorl1	T	G	9: 41,946,744 (GRCm39)	I856L	probably damaging	Het
Spag7	T	C	11: 70,555,688 (GRCm39)	D83G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmprss11b	T	C	5: 86,812,137 (GRCm39)	N170S	probably benign	Het
Tnfrsf1b	G	A	4: 144,950,855 (GRCm39)	Q253*	probably null	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Ttn	A	G	2: 76,727,987 (GRCm39)		probably benign	Het
Vmn1r213	A	C	13: 23,195,593 (GRCm39)		probably benign	Het
Vmn1r54	C	A	6: 90,246,864 (GRCm39)	Y259*	probably null	Het
Vmn1r55	A	G	7: 5,150,075 (GRCm39)	V116A	probably benign	Het
Vmn2r120	T	C	17: 57,816,477 (GRCm39)	N626S	probably damaging	Het
Vmn2r58	A	G	7: 41,522,051 (GRCm39)	F15S	possibly damaging	Het
Vmn2r73	A	T	7: 85,520,768 (GRCm39)	V400E	probably damaging	Het
Zbtb39	A	G	10: 127,578,696 (GRCm39)	I423M	possibly damaging	Het
Zfp352	A	G	4: 90,113,401 (GRCm39)	N514D	probably benign	Het
Zfp451	A	T	1: 33,816,494 (GRCm39)	H485Q	probably 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
IGL02313:Sdccag8	APN	1	176,652,321 (GRCm39)	missense	possibly damaging	0.48
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
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

Predicted Primers

PCR Primer
(F):5'- AGCATCAGGGTGCTGCTATG -3'
(R):5'- AAAGGGGTGCACAGGACTTC -3'

Sequencing Primer
(F):5'- TAGTGTTGGAAAGCAGTCATCC -3'
(R):5'- TGCACAGGACTTCAGAAAGC -3'

Posted On

2015-07-07