Mutagenetix > Incidental Mutation

Incidental Mutation 'R4590:Sdccag8'

342722

Institutional Source

Beutler Lab

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) question?

Stock #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

176642226-176848003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 176775858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 590 (Y590H)

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: Y590H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: Y590H

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: 97.2%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,716,697 (GRCm39)	D201E	probably damaging	Het
Ano10	T	A	9: 122,086,231 (GRCm39)	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,555,646 (GRCm39)	L319*	probably null	Het
Cacna1e	T	C	1: 154,312,265 (GRCm39)	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,949,862 (GRCm39)	Y315*	probably null	Het
Cndp2	C	A	18: 84,687,933 (GRCm39)	V353F	probably damaging	Het
Ctsq	T	A	13: 61,184,028 (GRCm39)	N298I	probably benign	Het
Dnah6	A	T	6: 73,129,695 (GRCm39)	C1173S	probably damaging	Het
Dnah9	T	C	11: 65,931,218 (GRCm39)	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,363,237 (GRCm39)	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,293,045 (GRCm39)	V76L	probably damaging	Het
Dsc3	A	C	18: 20,122,752 (GRCm39)	C57W	probably damaging	Het
Dtx3	A	G	10: 127,028,564 (GRCm39)	S222P	probably damaging	Het
Eml5	T	C	12: 98,803,600 (GRCm39)	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,234,093 (GRCm39)	I122V	probably benign	Het
Fgr	T	A	4: 132,722,364 (GRCm39)	V211E	probably damaging	Het
Flvcr1	T	C	1: 190,744,343 (GRCm39)	T402A	probably benign	Het
Frmd5	C	T	2: 121,595,512 (GRCm39)		probably null	Het
Fut2	T	C	7: 45,300,370 (GRCm39)	N134S	possibly damaging	Het
Gm10110	A	T	14: 90,134,982 (GRCm39)		noncoding transcript	Het
Gm7275	A	T	16: 47,893,982 (GRCm39)		noncoding transcript	Het
Gm904	T	A	13: 50,799,285 (GRCm39)	C81*	probably null	Het
Herc1	T	A	9: 66,344,946 (GRCm39)	V1913E	probably damaging	Het
Hnmt	T	C	2: 23,909,111 (GRCm39)		probably null	Het
Ift172	T	C	5: 31,411,299 (GRCm39)	E1643G	probably damaging	Het
Inpp4b	T	A	8: 82,468,040 (GRCm39)	M1K	probably null	Het
Keap1	G	T	9: 21,148,905 (GRCm39)	A34D	probably damaging	Het
Krt25	T	C	11: 99,208,854 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,865,410 (GRCm39)	V2916A	probably benign	Het
Ly9	G	A	1: 171,421,443 (GRCm39)	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,205,280 (GRCm39)	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,937,797 (GRCm39)	C265F	probably damaging	Het
Mrgprb5	C	T	7: 47,817,809 (GRCm39)	E309K	probably benign	Het
Nrtn	T	C	17: 57,058,504 (GRCm39)	T166A	probably damaging	Het
Odr4	A	G	1: 150,262,103 (GRCm39)		probably null	Het
Or8g50	T	C	9: 39,648,146 (GRCm39)	F12L	probably damaging	Het
Osbpl7	T	A	11: 96,947,098 (GRCm39)	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,555,549 (GRCm39)	I293T	probably damaging	Het
Pes1	A	G	11: 3,927,986 (GRCm39)	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,551,339 (GRCm39)	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,174,789 (GRCm39)	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,865,322 (GRCm39)	L737*	probably null	Het
Rcor3	A	T	1: 191,810,217 (GRCm39)	F153L	probably damaging	Het
Rev3l	G	A	10: 39,682,929 (GRCm39)	C349Y	probably damaging	Het
Rnf115	C	T	3: 96,695,889 (GRCm39)	T225M	probably benign	Het
Rnf157	A	G	11: 116,250,098 (GRCm39)	V200A	probably damaging	Het
Scfd2	T	C	5: 74,372,917 (GRCm39)	T653A	probably benign	Het
Sema4d	T	A	13: 51,877,654 (GRCm39)	K59N	probably benign	Het
Serpinb7	C	A	1: 107,379,563 (GRCm39)	H323Q	probably damaging	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,969,020 (GRCm39)	S466P	possibly damaging	Het
Sgsm2	T	C	11: 74,741,958 (GRCm39)	M1011V	probably damaging	Het
Ssc4d	G	A	5: 135,993,538 (GRCm39)	P106L	probably benign	Het
Taf7	T	C	18: 37,775,784 (GRCm39)	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,152,553 (GRCm39)	K71R	possibly damaging	Het
Tff3	C	T	17: 31,348,508 (GRCm39)	V15I	probably benign	Het
Tgfb3	C	A	12: 86,124,589 (GRCm39)	V40L	possibly damaging	Het
Timm10	T	A	2: 84,657,992 (GRCm39)	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,663,753 (GRCm39)	N74I	probably damaging	Het
Ttll1	G	A	15: 83,381,546 (GRCm39)	T241I	probably damaging	Het
Uba6	T	A	5: 86,260,603 (GRCm39)	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,955,480 (GRCm39)	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,497,728 (GRCm39)	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,315,014 (GRCm39)	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,775,303 (GRCm39)	F184L	possibly damaging	Het
Vtn	A	T	11: 78,393,032 (GRCm39)	I466F	probably damaging	Het
Zfp352	A	C	4: 90,112,772 (GRCm39)	D304A	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
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'- CTCACAAGACTCAGTGTCCC -3'
(R):5'- ACACAGAGATACCTGGTTTCTC -3'

Sequencing Primer
(F):5'- TGTCCCGCCAGATGACAAGTC -3'
(R):5'- CAGAGATACCTGGTTTCTCAGAAAAC -3'

Posted On

2015-09-24