Mutagenetix > Incidental Mutation

Incidental Mutation 'R7130:Sdccag8'

552558

Institutional Source

Beutler Lab

Gene Symbol

Sdccag8

Ensembl Gene

ENSMUSG00000026504

Gene Name

serologically defined colon cancer antigen 8

Synonyms

CCCAP, 2700048G21Rik, 5730470G24Rik

MMRRC Submission

045215-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

176642226-176848003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 176702167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 424 (A424D)

Ref Sequence

ENSEMBL: ENSMUSP00000027785 (fasta)

Gene Model

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

AlphaFold

Q80UF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027785
AA Change: A424D

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: A424D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,021 (GRCm39)	T735I	possibly damaging	Het
Abtb3	A	C	10: 85,223,419 (GRCm39)	D76A	unknown	Het
Adcy10	T	A	1: 165,331,616 (GRCm39)	V83E	probably damaging	Het
Adcy6	A	G	15: 98,495,110 (GRCm39)	Y701H	probably benign	Het
Apbb1	G	A	7: 105,214,538 (GRCm39)	H518Y	probably damaging	Het
Arhgap20	T	A	9: 51,761,047 (GRCm39)	V966E	probably damaging	Het
Bbx	T	A	16: 50,030,805 (GRCm39)		probably null	Het
Bpifb9b	T	A	2: 154,153,592 (GRCm39)	N219K	probably damaging	Het
Cdk19	A	G	10: 40,355,761 (GRCm39)	T490A	unknown	Het
Cyb5r1	T	G	1: 134,335,759 (GRCm39)		probably benign	Het
Dnah14	C	T	1: 181,573,523 (GRCm39)	Q2945*	probably null	Het
Eif5b	A	G	1: 38,080,857 (GRCm39)	T733A	probably damaging	Het
Esyt3	T	A	9: 99,200,223 (GRCm39)	D657V	probably benign	Het
Fat4	T	A	3: 39,034,936 (GRCm39)	F2863I	probably damaging	Het
Fbxw14	T	A	9: 109,100,350 (GRCm39)	I435L	probably benign	Het
Fus	G	A	7: 127,573,585 (GRCm39)	G253S	unknown	Het
Gdi2	T	C	13: 3,598,891 (GRCm39)	V25A	probably benign	Het
Gm28729	T	G	9: 96,401,457 (GRCm39)	R110S	probably benign	Het
Gucd1	A	G	10: 75,347,951 (GRCm39)	L28P	possibly damaging	Het
Hmgxb3	C	T	18: 61,265,450 (GRCm39)	S1176N	probably benign	Het
Islr2	T	C	9: 58,105,575 (GRCm39)	T606A	probably damaging	Het
Kcnf1	T	C	12: 17,225,810 (GRCm39)	D137G	probably benign	Het
Klkb1	T	A	8: 45,728,575 (GRCm39)	T395S	probably benign	Het
Morc2b	T	A	17: 33,355,262 (GRCm39)	S837C	possibly damaging	Het
Mrpl9	A	G	3: 94,354,597 (GRCm39)	R204G	probably benign	Het
Naaladl1	A	G	19: 6,156,018 (GRCm39)	E64G	probably benign	Het
Nlrx1	T	C	9: 44,173,638 (GRCm39)	E521G	possibly damaging	Het
Npc2	A	G	12: 84,812,081 (GRCm39)	S54P	probably damaging	Het
Nxpe2	T	C	9: 48,250,837 (GRCm39)	M37V	probably benign	Het
Or2ag17	A	G	7: 106,389,389 (GRCm39)	L273P	probably benign	Het
Or2w1	T	G	13: 21,317,416 (GRCm39)	V157G	probably benign	Het
Or4b1b	T	C	2: 90,112,266 (GRCm39)	I218V	probably benign	Het
Or9s27	C	T	1: 92,516,634 (GRCm39)	A194V	probably benign	Het
Osbpl9	G	A	4: 108,940,296 (GRCm39)	R213C	probably benign	Het
Pard3	C	A	8: 128,142,164 (GRCm39)	R907S	probably damaging	Het
Pcdhb11	A	G	18: 37,556,559 (GRCm39)	S630G	probably benign	Het
Pcdhb17	G	A	18: 37,618,498 (GRCm39)	C96Y	probably damaging	Het
Pclo	C	T	5: 14,729,356 (GRCm39)	T2738I	unknown	Het
Pcnx2	G	A	8: 126,480,323 (GRCm39)	R1995*	probably null	Het
Ppm1a	T	A	12: 72,831,007 (GRCm39)	N177K	probably benign	Het
Rfx6	A	T	10: 51,554,476 (GRCm39)	K106*	probably null	Het
Rhoh	T	C	5: 66,050,207 (GRCm39)	V159A	probably damaging	Het
Rreb1	T	C	13: 38,083,724 (GRCm39)	V129A	probably damaging	Het
Sdf2	T	C	11: 78,136,823 (GRCm39)	M1T	probably null	Het
Sftpb	T	A	6: 72,282,808 (GRCm39)	F94I	possibly damaging	Het
Slc38a2	G	T	15: 96,589,263 (GRCm39)	H410Q	probably damaging	Het
Slc40a1	A	T	1: 45,960,384 (GRCm39)	V68E	probably damaging	Het
Spopfm3	T	C	3: 94,105,834 (GRCm39)	W51R	probably damaging	Het
Srd5a3	T	C	5: 76,297,684 (GRCm39)	V162A	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tango6	A	G	8: 107,533,733 (GRCm39)	D953G	probably damaging	Het
Tdrd7	T	C	4: 46,029,693 (GRCm39)	S1009P	probably damaging	Het
Thap3	T	C	4: 152,073,373 (GRCm39)	Y14C	possibly damaging	Het
Tmem143	T	A	7: 45,558,901 (GRCm39)	M281K	possibly damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Tsga10	A	G	1: 37,822,965 (GRCm39)	I516T	probably damaging	Het
Ttn	T	C	2: 76,721,013 (GRCm39)	I6804V	unknown	Het
Ubtfl1	C	A	9: 18,321,143 (GRCm39)	P224T	probably damaging	Het
Umad1	G	T	6: 8,427,185 (GRCm39)	C120F	probably null	Het
Unc93a2	T	C	17: 7,637,824 (GRCm39)	T304A	probably benign	Het
Vinac1	A	T	2: 128,881,101 (GRCm39)	V275D		Het
Vmn2r79	T	C	7: 86,651,474 (GRCm39)	V291A	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
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
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'- GAAAGAGGCATTCCAGGTTATG -3'
(R):5'- TCCCGTGTGCCTGAATACAG -3'

Sequencing Primer
(F):5'- CATTCCAGGTTATGAGGTGAGC -3'
(R):5'- TGTGCCTGAATACAGCACAC -3'

Posted On

2019-05-15