Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Ccdc102a'

659285

Institutional Source

Beutler Lab

Gene Symbol

Ccdc102a

Ensembl Gene

ENSMUSG00000063605

Gene Name

coiled-coil domain containing 102A

Synonyms

LOC234582

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95629497-95644726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95632684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 431 (F431C)

Ref Sequence

ENSEMBL: ENSMUSP00000077107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077955]

AlphaFold

Q3TMW1

Predicted Effect

probably benign
Transcript: ENSMUST00000077955
AA Change: F431C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: F431C

Domain	Start	End	E-Value	Type
low complexity region	36	67	N/A	INTRINSIC
low complexity region	71	87	N/A	INTRINSIC
coiled coil region	101	160	N/A	INTRINSIC
Pfam:Myosin_tail_1	311	508	8e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,684,491 (GRCm39)	D1790V	probably damaging	Het
Aopep	A	T	13: 63,338,364 (GRCm39)	E579V	probably damaging	Het
Avl9	T	A	6: 56,705,644 (GRCm39)	Y175*	probably null	Het
Bmp2	A	T	2: 133,403,202 (GRCm39)	D251V	probably damaging	Het
Camsap2	T	A	1: 136,204,943 (GRCm39)	K1191N	probably damaging	Het
Ccdc186	T	C	19: 56,798,677 (GRCm39)	I270M	probably damaging	Het
Copb2	A	G	9: 98,469,672 (GRCm39)	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,728,016 (GRCm39)	R22K	probably benign	Het
Ddx50	A	G	10: 62,478,628 (GRCm39)	F186S	probably damaging	Het
Dhx38	T	C	8: 110,280,012 (GRCm39)	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,651,300 (GRCm39)	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,893,164 (GRCm39)	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,216,242 (GRCm39)	F107S	probably damaging	Het
Dock8	T	A	19: 25,107,870 (GRCm39)	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,835,887 (GRCm39)	T526K	probably damaging	Het
Gnas	T	C	2: 174,140,394 (GRCm39)	S188P	possibly damaging	Het
Gpam	T	C	19: 55,084,671 (GRCm39)	D36G	probably benign	Het
Gucy2e	C	A	11: 69,127,179 (GRCm39)	R98L	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,161,199 (GRCm39)		probably benign	Het
Icos	A	G	1: 61,033,101 (GRCm39)	D100G	probably damaging	Het
Ifi203	A	T	1: 173,756,472 (GRCm39)		probably benign	Het
Ift46	T	A	9: 44,695,280 (GRCm39)	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,804,169 (GRCm39)		probably null	Het
Lgr5	T	C	10: 115,288,307 (GRCm39)	Y779C	probably damaging	Het
Ltk	G	T	2: 119,588,588 (GRCm39)	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 25,120,652 (GRCm39)	C852*	probably null	Het
Mmp27	A	G	9: 7,579,776 (GRCm39)	M443V	probably benign	Het
Muc6	T	C	7: 141,234,184 (GRCm39)	D769G	probably benign	Het
Myo7b	T	C	18: 32,110,142 (GRCm39)	I1107V	probably benign	Het
Nebl	T	A	2: 17,355,520 (GRCm39)	H211L	probably benign	Het
Oaz3	T	A	3: 94,343,742 (GRCm39)	K40N	probably damaging	Het
Or5as1	T	A	2: 86,980,382 (GRCm39)	T208S	probably benign	Het
Or7e169	T	A	9: 19,757,848 (GRCm39)	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,058,977 (GRCm39)	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,503,619 (GRCm39)	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,266 (GRCm39)		probably benign	Het
Rab3ip	A	G	10: 116,746,059 (GRCm39)	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Sec62	G	T	3: 30,872,961 (GRCm39)	R348L	unknown	Het
Sema5b	C	T	16: 35,471,979 (GRCm39)	A479V	possibly damaging	Het
Shank3	T	C	15: 89,416,418 (GRCm39)	I222T	probably damaging	Het
Sp1	C	T	15: 102,316,964 (GRCm39)	T154I	possibly damaging	Het
Spata31e1	A	G	13: 49,940,108 (GRCm39)	V534A	possibly damaging	Het
Srek1	A	G	13: 103,888,957 (GRCm39)		probably benign	Het
Tmem129	A	G	5: 33,812,920 (GRCm39)	S143P	possibly damaging	Het
Tmem202	A	T	9: 59,426,929 (GRCm39)	C194S	probably benign	Het
Tmprss15	A	T	16: 78,884,403 (GRCm39)	I93K	probably damaging	Het
Ttn	A	G	2: 76,606,653 (GRCm39)	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het

Other mutations in Ccdc102a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ccdc102a	APN	8	95,638,266 (GRCm39)	splice site	probably null
IGL01921:Ccdc102a	APN	8	95,640,019 (GRCm39)	missense	probably damaging	1.00
IGL02961:Ccdc102a	APN	8	95,629,978 (GRCm39)	missense	possibly damaging	0.95
R0413:Ccdc102a	UTSW	8	95,629,914 (GRCm39)	missense	probably benign	0.23
R0423:Ccdc102a	UTSW	8	95,632,554 (GRCm39)	splice site	probably benign
R0437:Ccdc102a	UTSW	8	95,640,054 (GRCm39)	missense	probably damaging	1.00
R1468:Ccdc102a	UTSW	8	95,632,714 (GRCm39)	missense	probably benign	0.06
R1468:Ccdc102a	UTSW	8	95,632,714 (GRCm39)	missense	probably benign	0.06
R1540:Ccdc102a	UTSW	8	95,634,341 (GRCm39)	critical splice donor site	probably null
R1893:Ccdc102a	UTSW	8	95,640,171 (GRCm39)	missense	probably damaging	1.00
R2317:Ccdc102a	UTSW	8	95,634,957 (GRCm39)	missense	probably null	1.00
R4280:Ccdc102a	UTSW	8	95,634,444 (GRCm39)	nonsense	probably null
R6115:Ccdc102a	UTSW	8	95,629,999 (GRCm39)	missense	probably benign
R6331:Ccdc102a	UTSW	8	95,638,144 (GRCm39)	missense	probably benign
R6650:Ccdc102a	UTSW	8	95,639,892 (GRCm39)	missense	probably benign	0.23
R7019:Ccdc102a	UTSW	8	95,636,431 (GRCm39)	missense	probably benign	0.42
R7302:Ccdc102a	UTSW	8	95,640,066 (GRCm39)	missense	probably damaging	1.00
R7402:Ccdc102a	UTSW	8	95,629,981 (GRCm39)	missense	probably damaging	1.00
R7949:Ccdc102a	UTSW	8	95,631,913 (GRCm39)	missense	probably damaging	1.00
R7995:Ccdc102a	UTSW	8	95,634,495 (GRCm39)	missense	probably damaging	0.99
R8166:Ccdc102a	UTSW	8	95,639,944 (GRCm39)	missense	possibly damaging	0.86
R9179:Ccdc102a	UTSW	8	95,639,748 (GRCm39)	missense	possibly damaging	0.79
R9297:Ccdc102a	UTSW	8	95,638,120 (GRCm39)	missense	possibly damaging	0.78
R9599:Ccdc102a	UTSW	8	95,639,901 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCATACAGGAACACAGGTG -3'
(R):5'- ACGCAGATAAAGCCACTGAG -3'

Sequencing Primer
(F):5'- GGGGGTGAATGGCCTGTCC -3'
(R):5'- TGCCAGCTCCCGATTGATCAG -3'

Posted On

2021-01-18