Mutagenetix > Incidental Mutation

Incidental Mutation 'R9013:Sdccag8'

685736

Institutional Source

Beutler Lab

Gene Symbol

Sdccag8

Ensembl Gene

ENSMUSG00000026504

Gene Name

serologically defined colon cancer antigen 8

Synonyms

CCCAP, 2700048G21Rik, 5730470G24Rik

MMRRC Submission

068843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

176642226-176848003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 176652371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 41 (V41I)

Ref Sequence

ENSEMBL: ENSMUSP00000027785 (fasta)

Gene Model

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

AlphaFold

Q80UF4

Predicted Effect

probably benign
Transcript: ENSMUST00000027785
AA Change: V41I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: V41I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056773
AA Change: V41I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504
AA Change: V41I

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: V41I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
AA Change: V41I

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

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	T	14: 70,394,176 (GRCm39)	L200I	probably damaging	Het
Afap1	G	A	5: 36,133,932 (GRCm39)	D456N	possibly damaging	Het
Afm	A	T	5: 90,671,594 (GRCm39)	D92V	probably damaging	Het
Ahi1	T	C	10: 20,883,658 (GRCm39)	I841T	probably benign	Het
Asb1	T	C	1: 91,480,163 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,348,070 (GRCm39)	I507F	probably damaging	Het
Astn2	A	G	4: 65,910,584 (GRCm39)	M468T	probably benign	Het
C030006K11Rik	T	C	15: 76,608,004 (GRCm39)	S5G	probably benign	Het
C9	A	T	15: 6,516,193 (GRCm39)	D332V	probably damaging	Het
Cacna1c	A	T	6: 118,719,266 (GRCm39)	S423T	probably damaging	Het
Cbx8	T	C	11: 118,929,649 (GRCm39)	I315V	possibly damaging	Het
Ccdc50	T	A	16: 27,228,106 (GRCm39)	I91N	probably damaging	Het
Col4a1	T	A	8: 11,272,270 (GRCm39)	I707L	probably benign	Het
Cyc1	T	C	15: 76,229,019 (GRCm39)	V154A	possibly damaging	Het
Cyp4f40	A	T	17: 32,890,173 (GRCm39)	H281L	probably benign	Het
D130052B06Rik	T	G	11: 33,573,491 (GRCm39)	C74W	unknown	Het
Dap	G	A	15: 31,273,344 (GRCm39)	G66D	probably damaging	Het
Dclk3	A	T	9: 111,297,566 (GRCm39)	H370L	probably benign	Het
Dgka	C	A	10: 128,566,071 (GRCm39)	E360*	probably null	Het
Dst	A	G	1: 34,217,165 (GRCm39)	I1202V	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gpx2	A	G	12: 76,842,118 (GRCm39)	L11P	probably damaging	Het
Greb1	A	G	12: 16,789,970 (GRCm39)	L26S	probably damaging	Het
Gtpbp2	A	G	17: 46,475,740 (GRCm39)	K163R	probably benign	Het
Hsd3b1	A	T	3: 98,759,977 (GRCm39)	L338Q	probably damaging	Het
Il15ra	A	G	2: 11,732,576 (GRCm39)	S67G	probably benign	Het
Kcnc2	C	T	10: 112,107,723 (GRCm39)	A38V	probably damaging	Het
Kif19b	A	T	5: 140,449,368 (GRCm39)	Y180F	probably damaging	Het
Klk1b16	A	G	7: 43,790,332 (GRCm39)	D169G	probably benign	Het
Kmt2a	T	C	9: 44,761,208 (GRCm39)	K214E	probably damaging	Het
Lcor	T	A	19: 41,573,189 (GRCm39)	V648D	probably damaging	Het
Lrriq1	C	T	10: 103,050,931 (GRCm39)	G607D	probably damaging	Het
Lysmd3	T	A	13: 81,817,580 (GRCm39)	S186T	probably damaging	Het
Meis1	G	T	11: 18,966,354 (GRCm39)	D6E	probably benign	Het
Mfsd4b2	T	G	10: 39,798,062 (GRCm39)	T98P	probably benign	Het
Muc16	T	A	9: 18,424,069 (GRCm39)	E8193V	possibly damaging	Het
Nr1i3	A	G	1: 171,042,026 (GRCm39)	T37A	probably damaging	Het
Nr5a2	A	T	1: 136,872,745 (GRCm39)	D112E	probably damaging	Het
Oas1c	A	G	5: 120,943,497 (GRCm39)	I214T	probably damaging	Het
Omp	A	G	7: 97,794,552 (GRCm39)	M25T	probably benign	Het
Or12d17	G	A	17: 37,777,441 (GRCm39)	V115M	probably benign	Het
Or12j4	A	T	7: 140,046,179 (GRCm39)	R22W	probably benign	Het
Or13c9	C	A	4: 52,935,900 (GRCm39)	A128S	probably benign	Het
Or5p58	A	G	7: 107,694,471 (GRCm39)	I102T	probably benign	Het
Or6c210	T	C	10: 129,495,702 (GRCm39)	F9S	probably damaging	Het
Or7g12	A	T	9: 18,899,874 (GRCm39)	I197F	possibly damaging	Het
Paf1	A	G	7: 28,098,133 (GRCm39)	E381G	unknown	Het
Pcdhga8	A	G	18: 37,858,997 (GRCm39)	T18A	probably benign	Het
Pclo	T	C	5: 14,727,627 (GRCm39)	S2162P	unknown	Het
Psg25	T	C	7: 18,258,690 (GRCm39)	I329V	probably benign	Het
Ptov1	A	G	7: 44,514,985 (GRCm39)	S209P	possibly damaging	Het
Ralgapb	A	G	2: 158,279,060 (GRCm39)	K397E	probably damaging	Het
Ryr2	T	A	13: 11,618,618 (GRCm39)	T3866S	probably damaging	Het
Sdf2l1	T	A	16: 16,948,630 (GRCm39)	D136V	possibly damaging	Het
Slc26a7	A	T	4: 14,506,514 (GRCm39)	S612T	probably damaging	Het
Snf8	T	C	11: 95,930,126 (GRCm39)	F43L	probably benign	Het
Snta1	A	T	2: 154,245,809 (GRCm39)	M104K	probably damaging	Het
Sox2	T	A	3: 34,704,746 (GRCm39)	M61K	probably damaging	Het
Spata31e3	T	C	13: 50,401,588 (GRCm39)	H246R	possibly damaging	Het
Spats2	T	A	15: 99,097,128 (GRCm39)	D293E	probably damaging	Het
Spta1	A	G	1: 174,050,174 (GRCm39)	D1738G	probably damaging	Het
Sqstm1	A	T	11: 50,098,684 (GRCm39)	Y89N	probably damaging	Het
Stat4	T	A	1: 52,050,957 (GRCm39)	N5K	probably benign	Het
Syne4	A	G	7: 30,017,418 (GRCm39)	H294R	probably damaging	Het
Tbc1d7	A	C	13: 43,322,310 (GRCm39)	F45V	probably damaging	Het
Tekt3	T	A	11: 62,974,684 (GRCm39)	N334K	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,620 (GRCm39)	H266R	possibly damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trip11	A	G	12: 101,851,377 (GRCm39)	S896P	probably damaging	Het
Tubb6	T	C	18: 67,526,046 (GRCm39)	V66A	possibly damaging	Het
Tyk2	A	G	9: 21,016,403 (GRCm39)	L1189P	probably damaging	Het
Usp34	T	G	11: 23,320,302 (GRCm39)	V911G		Het
Wdr53	C	T	16: 32,075,413 (GRCm39)	A206V	probably damaging	Het
Xrn1	A	G	9: 95,920,981 (GRCm39)	E1364G	probably benign	Het
Ywhag	T	C	5: 135,940,217 (GRCm39)	M126V	probably damaging	Het
Zfp383	C	T	7: 29,614,717 (GRCm39)	P324L	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
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
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'- CCTCTATCTCTTAGCTAGCTGAAGC -3'
(R):5'- AACGTAGCAGTAGAGTGGCC -3'

Sequencing Primer
(F):5'- GCTGAAGCTAGAGTTCTGCTC -3'
(R):5'- TAGCAGTAGAGTGGCCAACTG -3'

Posted On

2021-10-11