Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00819:Ccdc150'

9436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00819

Quality Score

Status

Chromosome

Chromosomal Location

54289842-54407886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54302732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 117 (N117K)

Ref Sequence

ENSEMBL: ENSMUSP00000125195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]

AlphaFold

Q8CDI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027128
AA Change: N117K

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

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: N117K

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	676	N/A	INTRINSIC
coiled coil region	727	952	N/A	INTRINSIC
coiled coil region	985	1048	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160472
AA Change: N117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: N117K

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161988

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,590,350 (GRCm39)		probably null	Het
Apaf1	G	T	10: 90,833,202 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,915,043 (GRCm39)	V1891E	possibly damaging	Het
Atm	A	G	9: 53,429,831 (GRCm39)	S402P	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Ccl7	A	G	11: 81,937,401 (GRCm39)	N45S	probably benign	Het
Dnah2	A	T	11: 69,364,176 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,902,843 (GRCm39)	I169T	probably benign	Het
Exo1	T	C	1: 175,723,803 (GRCm39)	V383A	probably benign	Het
Fbxl2	A	G	9: 113,813,047 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,305,451 (GRCm39)	V106D	possibly damaging	Het
Fsip1	C	A	2: 118,080,393 (GRCm39)	R121L	possibly damaging	Het
Igsf9	T	C	1: 172,324,203 (GRCm39)	S789P	probably benign	Het
Klf7	T	C	1: 64,081,476 (GRCm39)	D284G	possibly damaging	Het
Mbtd1	A	G	11: 93,822,637 (GRCm39)		probably null	Het
Mef2c	A	T	13: 83,773,499 (GRCm39)	D125V	probably damaging	Het
Nectin4	T	C	1: 171,212,254 (GRCm39)	L284S	probably damaging	Het
Numa1	G	T	7: 101,641,917 (GRCm39)	G122W	possibly damaging	Het
Pcbd1	A	C	10: 60,927,919 (GRCm39)	E27A	probably benign	Het
Pclo	A	G	5: 14,908,860 (GRCm39)	N5056S	unknown	Het
Pelp1	G	A	11: 70,285,444 (GRCm39)	P808L	unknown	Het
Ppp1r12a	T	C	10: 108,076,682 (GRCm39)	S304P	probably damaging	Het
Ppp1r7	T	A	1: 93,273,978 (GRCm39)	D51E	probably benign	Het
Rassf6	T	C	5: 90,751,930 (GRCm39)	K308E	probably benign	Het
Rel	A	T	11: 23,693,029 (GRCm39)	F335I	probably benign	Het
Scnn1g	A	G	7: 121,339,660 (GRCm39)	E153G	probably benign	Het
Slc2a5	T	C	4: 150,210,113 (GRCm39)	Y33H	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Tpra1	T	A	6: 88,886,318 (GRCm39)	Y65*	probably null	Het
Trip12	C	T	1: 84,731,993 (GRCm39)	G994S	probably damaging	Het
Trnt1	T	A	6: 106,753,183 (GRCm39)	Y195*	probably null	Het
Ttn	A	G	2: 76,573,394 (GRCm39)	I17506T	probably damaging	Het
Ubr4	C	T	4: 139,203,593 (GRCm39)	T4761I	possibly damaging	Het
Vmn1r204	T	A	13: 22,741,117 (GRCm39)	Y249*	probably null	Het
Zfp212	C	T	6: 47,908,256 (GRCm39)	P412S	probably damaging	Het
Zhx1	A	G	15: 57,918,090 (GRCm39)	V52A	probably benign	Het
Zpbp2	A	T	11: 98,448,418 (GRCm39)	H245L	probably damaging	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54,311,709 (GRCm39)	splice site	probably benign
IGL01973:Ccdc150	APN	1	54,339,647 (GRCm39)	splice site	probably null
IGL02352:Ccdc150	APN	1	54,311,680 (GRCm39)	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54,311,680 (GRCm39)	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54,302,704 (GRCm39)	nonsense	probably null
IGL02673:Ccdc150	APN	1	54,368,149 (GRCm39)	missense	probably benign	0.09
IGL03148:Ccdc150	APN	1	54,317,874 (GRCm39)	missense	possibly damaging	0.68
IGL03185:Ccdc150	APN	1	54,339,482 (GRCm39)	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54,329,861 (GRCm39)	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54,395,850 (GRCm39)	missense	probably benign
R0066:Ccdc150	UTSW	1	54,395,850 (GRCm39)	missense	probably benign
R0217:Ccdc150	UTSW	1	54,339,589 (GRCm39)	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54,368,670 (GRCm39)	missense	probably benign
R0687:Ccdc150	UTSW	1	54,324,790 (GRCm39)	splice site	probably null
R0790:Ccdc150	UTSW	1	54,316,935 (GRCm39)	splice site	probably benign
R1146:Ccdc150	UTSW	1	54,404,130 (GRCm39)	splice site	probably benign
R1288:Ccdc150	UTSW	1	54,403,617 (GRCm39)	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54,393,795 (GRCm39)	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54,407,069 (GRCm39)	intron	probably benign
R1957:Ccdc150	UTSW	1	54,303,068 (GRCm39)	missense	probably benign	0.00
R2180:Ccdc150	UTSW	1	54,311,706 (GRCm39)	critical splice donor site	probably null
R2226:Ccdc150	UTSW	1	54,404,084 (GRCm39)	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54,328,001 (GRCm39)	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54,328,001 (GRCm39)	missense	possibly damaging	0.51
R3056:Ccdc150	UTSW	1	54,328,001 (GRCm39)	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54,395,932 (GRCm39)	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54,395,932 (GRCm39)	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54,407,469 (GRCm39)	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54,317,970 (GRCm39)	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54,392,213 (GRCm39)	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54,394,913 (GRCm39)	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54,317,874 (GRCm39)	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54,404,027 (GRCm39)	intron	probably benign
R5028:Ccdc150	UTSW	1	54,302,636 (GRCm39)	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54,393,806 (GRCm39)	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54,302,779 (GRCm39)	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54,339,526 (GRCm39)	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54,316,873 (GRCm39)	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54,324,787 (GRCm39)	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54,324,787 (GRCm39)	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54,302,758 (GRCm39)	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54,407,176 (GRCm39)	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54,303,116 (GRCm39)	splice site	probably null
R6988:Ccdc150	UTSW	1	54,394,868 (GRCm39)	nonsense	probably null
R7248:Ccdc150	UTSW	1	54,344,057 (GRCm39)	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54,302,496 (GRCm39)	splice site	probably null
R7322:Ccdc150	UTSW	1	54,299,125 (GRCm39)	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54,339,541 (GRCm39)	nonsense	probably null
R7647:Ccdc150	UTSW	1	54,395,863 (GRCm39)	missense	probably damaging	1.00
R7981:Ccdc150	UTSW	1	54,407,551 (GRCm39)	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54,311,656 (GRCm39)	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54,368,646 (GRCm39)	missense	probably benign	0.10
R8688:Ccdc150	UTSW	1	54,407,132 (GRCm39)	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54,302,668 (GRCm39)	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54,311,641 (GRCm39)	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54,311,644 (GRCm39)	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54,299,197 (GRCm39)	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54,316,910 (GRCm39)	missense	probably damaging	0.99
R9367:Ccdc150	UTSW	1	54,324,760 (GRCm39)	missense	probably damaging	1.00
R9416:Ccdc150	UTSW	1	54,317,990 (GRCm39)	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54,320,930 (GRCm39)	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54,407,544 (GRCm39)	nonsense	probably null
R9747:Ccdc150	UTSW	1	54,299,107 (GRCm39)	nonsense	probably null

Posted On

2012-12-06