Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Ccdc149'

670935

Institutional Source

Beutler Lab

Gene Symbol

Ccdc149

Ensembl Gene

ENSMUSG00000045790

Gene Name

coiled-coil domain containing 149

Synonyms

Gm447, LOC242997

MMRRC Submission

068609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52531993-52628863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52596552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 20 (C20Y)

Ref Sequence

ENSEMBL: ENSMUSP00000062411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059428] [ENSMUST00000198008]

AlphaFold

F6V035

Predicted Effect

probably damaging
Transcript: ENSMUST00000059428
AA Change: C20Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: C20Y

Domain	Start	End	E-Value	Type
Pfam:DUF2353	21	333	3.5e-117	PFAM
low complexity region	388	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000198008
AA Change: C20Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790
AA Change: C20Y

Domain	Start	End	E-Value	Type
Pfam:DUF2353	21	138	1.5e-28	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	T	2: 103,823,022 (GRCm39)	T87K	possibly damaging	Het
Adar	G	A	3: 89,643,445 (GRCm39)	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,370,280 (GRCm39)	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,499,373 (GRCm39)	Y248N	probably benign	Het
Alpk2	A	T	18: 65,438,597 (GRCm39)	V932E	probably benign	Het
Apba3	T	A	10: 81,105,104 (GRCm39)	S126T	probably benign	Het
Brca2	T	A	5: 150,466,061 (GRCm39)	S1942T	possibly damaging	Het
Cd63	C	A	10: 128,748,071 (GRCm39)	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807 (GRCm39)	E270G	probably damaging	Het
Cplane1	A	G	15: 8,216,744 (GRCm39)	Y654C	probably damaging	Het
Dgki	A	T	6: 36,996,875 (GRCm39)	D574E	probably damaging	Het
Esrrb	A	G	12: 86,517,056 (GRCm39)	S63G	probably damaging	Het
Exoc1	C	T	5: 76,683,412 (GRCm39)	R46C	probably damaging	Het
Fcgr4	C	A	1: 170,847,477 (GRCm39)	A25D	probably damaging	Het
Fgf4	T	C	7: 144,415,408 (GRCm39)	V56A	probably benign	Het
Gfpt2	A	G	11: 49,714,043 (GRCm39)	I267V	probably benign	Het
Gm20939	A	C	17: 95,184,648 (GRCm39)	H432P	probably damaging	Het
Gpr179	A	T	11: 97,242,739 (GRCm39)	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ildr1	T	C	16: 36,528,762 (GRCm39)	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,159,344 (GRCm39)	D421G	probably benign	Het
Mmp15	C	T	8: 96,096,288 (GRCm39)	Q360*	probably null	Het
Nfatc2	T	C	2: 168,378,214 (GRCm39)	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,258,095 (GRCm39)	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,143,561 (GRCm39)		probably benign	Het
Nme9	T	A	9: 99,350,301 (GRCm39)	I178N	probably damaging	Het
Nrp2	C	T	1: 62,788,356 (GRCm39)	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,686,990 (GRCm39)	I723V	probably damaging	Het
Or5p50	C	T	7: 107,422,557 (GRCm39)	V40M	possibly damaging	Het
Pias3	C	A	3: 96,612,201 (GRCm39)	Q553K	probably benign	Het
Pnp2	T	G	14: 51,200,873 (GRCm39)	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,459,295 (GRCm39)	D156E	probably benign	Het
Rint1	T	C	5: 24,005,594 (GRCm39)	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,993 (GRCm39)	M1K	probably null	Het
Rnh1	C	T	7: 140,742,346 (GRCm39)	R404H	probably benign	Het
Slc4a8	T	C	15: 100,705,134 (GRCm39)	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,678 (GRCm39)	C167S	probably benign	Het
Spart	A	G	3: 55,029,100 (GRCm39)	D297G	probably benign	Het
Spata13	C	T	14: 60,929,275 (GRCm39)	R278C	probably damaging	Het
Tmc1	T	C	19: 20,767,209 (GRCm39)	T716A	probably benign	Het
Tpi1	A	G	6: 124,789,483 (GRCm39)	V164A	probably damaging	Het
Trim17	A	G	11: 58,862,002 (GRCm39)	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,567,687 (GRCm39)	L327Q	probably damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr76	C	T	2: 121,357,484 (GRCm39)	T180I	probably benign	Het
Zcchc8	T	C	5: 123,845,362 (GRCm39)	N333D	probably benign	Het
Zfp516	T	C	18: 82,975,460 (GRCm39)	S553P	probably damaging	Het

Other mutations in Ccdc149

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Ccdc149	APN	5	52,533,664 (GRCm39)	missense	probably benign	0.15
IGL02002:Ccdc149	APN	5	52,563,421 (GRCm39)	missense	probably damaging	1.00
pequeno	UTSW	5	52,562,475 (GRCm39)	nonsense	probably null
R0226:Ccdc149	UTSW	5	52,557,559 (GRCm39)	missense	probably damaging	1.00
R0420:Ccdc149	UTSW	5	52,557,581 (GRCm39)	splice site	probably benign
R0959:Ccdc149	UTSW	5	52,542,497 (GRCm39)	missense	probably damaging	1.00
R2075:Ccdc149	UTSW	5	52,596,510 (GRCm39)	missense	probably damaging	1.00
R2355:Ccdc149	UTSW	5	52,578,114 (GRCm39)	missense	probably damaging	0.99
R4755:Ccdc149	UTSW	5	52,561,493 (GRCm39)	missense	probably damaging	0.96
R5596:Ccdc149	UTSW	5	52,561,493 (GRCm39)	missense	probably damaging	0.96
R5955:Ccdc149	UTSW	5	52,533,877 (GRCm39)	missense	probably benign	0.00
R5993:Ccdc149	UTSW	5	52,560,117 (GRCm39)	missense	probably damaging	1.00
R6351:Ccdc149	UTSW	5	52,542,477 (GRCm39)	missense	probably benign
R6742:Ccdc149	UTSW	5	52,562,475 (GRCm39)	nonsense	probably null
R6939:Ccdc149	UTSW	5	52,533,607 (GRCm39)	missense	probably benign	0.00
R6963:Ccdc149	UTSW	5	52,596,439 (GRCm39)	missense	probably damaging	1.00
R7379:Ccdc149	UTSW	5	52,562,408 (GRCm39)	missense	probably damaging	0.99
R7715:Ccdc149	UTSW	5	52,561,533 (GRCm39)	critical splice acceptor site	probably null
R7920:Ccdc149	UTSW	5	52,562,436 (GRCm39)	missense	probably damaging	0.98
R8154:Ccdc149	UTSW	5	52,542,446 (GRCm39)	critical splice donor site	probably null
R8489:Ccdc149	UTSW	5	52,533,999 (GRCm39)	missense	probably benign	0.01
R9091:Ccdc149	UTSW	5	52,563,352 (GRCm39)	missense	possibly damaging	0.81
R9270:Ccdc149	UTSW	5	52,563,352 (GRCm39)	missense	possibly damaging	0.81
R9332:Ccdc149	UTSW	5	52,562,399 (GRCm39)	missense	probably damaging	1.00
R9334:Ccdc149	UTSW	5	52,578,171 (GRCm39)	missense	possibly damaging	0.49
R9501:Ccdc149	UTSW	5	52,542,477 (GRCm39)	missense	probably benign
Z1176:Ccdc149	UTSW	5	52,578,155 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCTACTGGCAAACTGTTTGTTG -3'
(R):5'- AGTTTTGTCTCTCGAGAACCG -3'

Sequencing Primer
(F):5'- GTTACTGTCTAAGAGAGCATGTCCAG -3'
(R):5'- TGTCTCTCGAGAACCGTGTGC -3'

Posted On

2021-04-30