Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Ccdc7a'

657077

Institutional Source

Beutler Lab

Gene Symbol

Ccdc7a

Ensembl Gene

ENSMUSG00000025808

Gene Name

coiled-coil domain containing 7A

Synonyms

Ccdc7, 4930517G15Rik, 4930540C21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128734235-129065517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129027657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Ref Sequence

ENSEMBL: ENSMUSP00000149790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]

AlphaFold

Q9D541

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095158
AA Change: S152P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: S152P

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	166	3e-79	PFAM
SCOP:d1sig__	191	370	1e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125112
AA Change: S152P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: S152P

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	166	4.3e-83	PFAM
SCOP:d1sig__	191	333	9e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000214889
AA Change: S152P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,512,641	H21Q	possibly damaging	Het
Ccnj	T	C	19: 40,845,164	S222P	probably damaging	Het
Cdcp2	C	T	4: 107,102,784	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,134,532	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,605,264	P185L	probably damaging	Het
Cpm	T	C	10: 117,679,978	V319A	probably damaging	Het
Ctxn2	A	G	2: 125,147,608	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,176,577	H334L	probably benign	Het
Dab1	A	G	4: 104,479,242	K12E	possibly damaging	Het
Emsy	T	C	7: 98,654,830		probably benign	Het
Etv4	G	T	11: 101,784,001	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,481,265	R484*	probably null	Het
Extl1	A	G	4: 134,371,292	C143R	probably benign	Het
Fat3	T	C	9: 16,375,267	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,309,802	C2511G	probably damaging	Het
Fer	T	A	17: 63,973,149	S72T	probably benign	Het
Gdf2	A	G	14: 33,944,840	D173G	probably damaging	Het
Gm11639	A	T	11: 104,818,637	D1815V	probably benign	Het
Gm6614	T	G	6: 142,003,389	H87P	probably damaging	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Gria1	A	T	11: 57,327,584	M819L	probably benign	Het
Gsap	A	T	5: 21,222,434	R187*	probably null	Het
Heatr6	A	G	11: 83,765,853	N314D	probably benign	Het
Hspd1	T	C	1: 55,078,346	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,254,029	Y8C	probably benign	Het
Lcmt2	A	G	2: 121,140,248	V118A	probably damaging	Het
Lmf2	T	C	15: 89,354,802	E37G	possibly damaging	Het
Macf1	A	G	4: 123,453,002	L1161P	probably damaging	Het
Mbip	T	A	12: 56,330,269		probably null	Het
Mgam	A	T	6: 40,694,526		probably null	Het
Mmrn1	G	A	6: 60,988,396	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,586,352	L24F	probably damaging	Het
Ncr1	T	A	7: 4,338,121	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,192,058	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,194,331	I500T	possibly damaging	Het
Olfr397	C	T	11: 73,965,397	S263L	possibly damaging	Het
Olfr518	T	A	7: 108,880,766	Q280L	possibly damaging	Het
Olfr820	A	G	10: 130,017,576	T72A	probably damaging	Het
Pcdha2	A	G	18: 36,941,272	D652G	probably damaging	Het
Pde6a	T	A	18: 61,220,946	N114K	probably damaging	Het
Pdp2	A	G	8: 104,594,281	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,580,006	V241A	probably benign	Het
Prkdc	T	A	16: 15,651,536	D168E	probably damaging	Het
Psg27	A	T	7: 18,562,090	H143Q	probably benign	Het
Serpina16	T	A	12: 103,672,537	I264F	probably benign	Het
Slc25a41	G	A	17: 57,041,582	H4Y	probably benign	Het
Smc3	T	G	19: 53,628,711	H518Q	probably benign	Het
Snrpb	G	T	2: 130,173,122	T158K	probably damaging	Het
Sobp	A	G	10: 43,022,396	F398L	probably damaging	Het
Spidr	T	A	16: 16,140,727	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,149,801	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,351,104	G59C	probably benign	Het
Tekt1	T	C	11: 72,352,024	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 52,792,706	D89V	possibly damaging	Het
Trim34b	T	C	7: 104,331,338	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,978,546	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,195,905	V238M	probably damaging	Het
Wipf3	A	G	6: 54,489,085	I443V	probably benign	Het

Other mutations in Ccdc7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Ccdc7a	APN	8	129026754	splice site	probably benign
IGL01019:Ccdc7a	APN	8	129061618	missense	probably benign	0.05
IGL01553:Ccdc7a	APN	8	129026591	splice site	probably benign
IGL01577:Ccdc7a	APN	8	128988763	missense	probably damaging	0.96
IGL03114:Ccdc7a	APN	8	129026689	missense	possibly damaging	0.62
IGL03323:Ccdc7a	APN	8	129058763	missense	probably benign	0.02
R1517:Ccdc7a	UTSW	8	129061681	missense	probably damaging	0.99
R1804:Ccdc7a	UTSW	8	128988766	nonsense	probably null
R1957:Ccdc7a	UTSW	8	128980135	missense	probably damaging	0.99
R4926:Ccdc7a	UTSW	8	128980054	intron	probably benign
R4981:Ccdc7a	UTSW	8	128984983	missense	probably benign	0.35
R5193:Ccdc7a	UTSW	8	128988797	missense	probably benign	0.02
R5273:Ccdc7a	UTSW	8	129061609	frame shift	probably null
R5486:Ccdc7a	UTSW	8	128985403	missense	probably damaging	0.98
R5505:Ccdc7a	UTSW	8	128980174	missense	possibly damaging	0.73
R5562:Ccdc7a	UTSW	8	129058785	missense	possibly damaging	0.79
R5704:Ccdc7a	UTSW	8	128980096	splice site	probably benign
R6256:Ccdc7a	UTSW	8	128935593	splice site	probably null
R6273:Ccdc7a	UTSW	8	128787338	missense	probably damaging	0.97
R6366:Ccdc7a	UTSW	8	128855992	missense	unknown
R6455:Ccdc7a	UTSW	8	128832610	missense	probably damaging	0.97
R6778:Ccdc7a	UTSW	8	128821120	missense	possibly damaging	0.66
R6882:Ccdc7a	UTSW	8	128797328	intron	probably benign
R6891:Ccdc7a	UTSW	8	129026638	missense	probably damaging	1.00
R6906:Ccdc7a	UTSW	8	128935681	missense	unknown
R7028:Ccdc7a	UTSW	8	128881594	missense	unknown
R7046:Ccdc7a	UTSW	8	129047619	missense	probably damaging	0.99
R7073:Ccdc7a	UTSW	8	128892385	missense	possibly damaging	0.46
R7268:Ccdc7a	UTSW	8	128881152	missense	possibly damaging	0.66
R7454:Ccdc7a	UTSW	8	128944516	missense	unknown
R7643:Ccdc7a	UTSW	8	128889811	missense	probably damaging	1.00
R7733:Ccdc7a	UTSW	8	128993052	missense	probably damaging	1.00
R7792:Ccdc7a	UTSW	8	128892437	missense	possibly damaging	0.81
R7902:Ccdc7a	UTSW	8	128836173	missense	possibly damaging	0.46
R7946:Ccdc7a	UTSW	8	128917146	missense	probably damaging	0.97
R7983:Ccdc7a	UTSW	8	128881078	missense	possibly damaging	0.66
R8032:Ccdc7a	UTSW	8	128825383	missense	unknown
R8108:Ccdc7a	UTSW	8	128980153	missense	unknown
R8345:Ccdc7a	UTSW	8	128798764	missense	probably benign	0.01
R8372:Ccdc7a	UTSW	8	128821104	missense	possibly damaging	0.82
R8379:Ccdc7a	UTSW	8	128964936	missense	probably benign	0.03
R8478:Ccdc7a	UTSW	8	128761369	missense	possibly damaging	0.66
R8536:Ccdc7a	UTSW	8	128790120	missense	possibly damaging	0.66
R8671:Ccdc7a	UTSW	8	128920467	missense	probably damaging	0.99
R8696:Ccdc7a	UTSW	8	128988763	missense	probably damaging	0.96
R8813:Ccdc7a	UTSW	8	128823461	missense	possibly damaging	0.83
R8859:Ccdc7a	UTSW	8	129061632	missense	probably benign	0.44
R9208:Ccdc7a	UTSW	8	128746001	missense	possibly damaging	0.66
R9222:Ccdc7a	UTSW	8	128799129	missense	unknown
R9262:Ccdc7a	UTSW	8	128759796	missense	possibly damaging	0.66
R9299:Ccdc7a	UTSW	8	128889838	missense	probably benign	0.27
R9337:Ccdc7a	UTSW	8	128889838	missense	probably benign	0.27
R9357:Ccdc7a	UTSW	8	128944655	critical splice acceptor site	probably null
R9516:Ccdc7a	UTSW	8	128829293	missense	unknown
R9579:Ccdc7a	UTSW	8	129047653	nonsense	probably null
R9672:Ccdc7a	UTSW	8	128944535	missense	unknown
R9777:Ccdc7a	UTSW	8	128892379	missense	possibly damaging	0.90
RF008:Ccdc7a	UTSW	8	128964953	missense	probably damaging	0.99
Z1176:Ccdc7a	UTSW	8	129026663	missense	probably benign	0.41
Z1177:Ccdc7a	UTSW	8	128807924	missense	possibly damaging	0.66
Z1190:Ccdc7a	UTSW	8	128819895	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ATCACACAGGGCTCAGAAGG -3'
(R):5'- TAGTCCTATGGAGTGCAAAGC -3'

Sequencing Primer
(F):5'- GGGGTAGTGTAACATACAACTGC -3'
(R):5'- GTCCTATGGAGTGCAAAGCTATTC -3'

Posted On

2021-01-18