Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Ccdc149'

183092

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc149

Ensembl Gene

ENSMUSG00000045790

Gene Name

coiled-coil domain containing 149

Synonyms

Gm447, LOC242997

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

52531993-52628863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52563421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 124 (T124M)

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: T124M

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

SMART Domains

Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: T124M

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 benign
Transcript: ENSMUST00000198008

SMART Domains

Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213027

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	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
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
R8791:Ccdc149	UTSW	5	52,596,552 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07