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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52374651-52471521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52439210 bp (GRCm38)

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
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,444,136		probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Pnp2	T	G	14: 50,963,416	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Rnh1	C	T	7: 141,162,433	R404H	probably benign	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Trim17	A	G	11: 58,971,176	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zcchc8	T	C	5: 123,707,299	N333D	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	probably damaging	Het

Other mutations in Ccdc149

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Ccdc149	APN	5	52376322	missense	probably benign	0.15
IGL02002:Ccdc149	APN	5	52406079	missense	probably damaging	1.00
pequeno	UTSW	5	52405133	nonsense	probably null
R0226:Ccdc149	UTSW	5	52400217	missense	probably damaging	1.00
R0420:Ccdc149	UTSW	5	52400239	splice site	probably benign
R0959:Ccdc149	UTSW	5	52385155	missense	probably damaging	1.00
R2075:Ccdc149	UTSW	5	52439168	missense	probably damaging	1.00
R2355:Ccdc149	UTSW	5	52420772	missense	probably damaging	0.99
R4755:Ccdc149	UTSW	5	52404151	missense	probably damaging	0.96
R5596:Ccdc149	UTSW	5	52404151	missense	probably damaging	0.96
R5955:Ccdc149	UTSW	5	52376535	missense	probably benign	0.00
R5993:Ccdc149	UTSW	5	52402775	missense	probably damaging	1.00
R6351:Ccdc149	UTSW	5	52385135	missense	probably benign
R6742:Ccdc149	UTSW	5	52405133	nonsense	probably null
R6939:Ccdc149	UTSW	5	52376265	missense	probably benign	0.00
R6963:Ccdc149	UTSW	5	52439097	missense	probably damaging	1.00
R7379:Ccdc149	UTSW	5	52405066	missense	probably damaging	0.99
R7715:Ccdc149	UTSW	5	52404191	critical splice acceptor site	probably null
R7920:Ccdc149	UTSW	5	52405094	missense	probably damaging	0.98
R8154:Ccdc149	UTSW	5	52385104	critical splice donor site	probably null
R8489:Ccdc149	UTSW	5	52376657	missense	probably benign	0.01
R9091:Ccdc149	UTSW	5	52406010	missense	possibly damaging	0.81
R9270:Ccdc149	UTSW	5	52406010	missense	possibly damaging	0.81
R9332:Ccdc149	UTSW	5	52405057	missense	probably damaging	1.00
R9334:Ccdc149	UTSW	5	52420829	missense	possibly damaging	0.49
R9501:Ccdc149	UTSW	5	52385135	missense	probably benign
Z1176:Ccdc149	UTSW	5	52420813	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