Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:Ccdc150'

410979

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: 0.082) question?

Stock #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54278715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 271 (H271R)

Ref Sequence

ENSEMBL: ENSMUSP00000125195 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

Predicted Effect

probably benign
Transcript: ENSMUST00000027128
AA Change: H271R

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: H271R

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

possibly damaging
Transcript: ENSMUST00000160472
AA Change: H271R

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: H271R

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,837,253	S255P	unknown	Het
Adamtsl2	T	A	2: 27,084,059	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,976,859	E214G	probably benign	Het
Bhmt2	T	A	13: 93,666,653	D124V	possibly damaging	Het
Clcn1	T	G	6: 42,299,991		probably null	Het
Col6a3	T	A	1: 90,827,866	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,437	M330K	probably damaging	Het
Csmd2	G	A	4: 128,384,269	C995Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,224	E252G	probably damaging	Het
Dhrs1	A	T	14: 55,741,291	Y133*	probably null	Het
Dock10	T	C	1: 80,540,358	I1300V	probably benign	Het
Efcab12	T	C	6: 115,810,991	Y670C	probably damaging	Het
Frg1	T	G	8: 41,411,284	K66N	probably benign	Het
Gbp2b	C	A	3: 142,606,881	H342N	probably benign	Het
Gm3259	A	G	5: 95,341,318	T207A	possibly damaging	Het
Gria4	T	A	9: 4,464,295	I556F	possibly damaging	Het
Kcnh1	T	G	1: 192,276,999	I287S	probably damaging	Het
Map1b	A	G	13: 99,441,695	L150P	probably damaging	Het
Map3k4	C	T	17: 12,238,158	R1299Q	probably benign	Het
Mapk10	T	C	5: 102,926,105	N407D	probably damaging	Het
Mcemp1	T	A	8: 3,667,390		probably null	Het
Nav1	A	C	1: 135,470,024	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,296,778	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,354,189	H564L	probably damaging	Het
Pnp	T	A	14: 50,950,728		probably benign	Het
Ppp2r2a	G	T	14: 67,022,295	N317K	probably benign	Het
Rars2	A	T	4: 34,650,243	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,465,007	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,070,470	V209A	possibly damaging	Het
Tet2	T	C	3: 133,481,363	S1102G	probably benign	Het
Wdr92	G	A	11: 17,229,845	G282E	probably damaging	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54272550	splice site	probably benign
IGL00819:Ccdc150	APN	1	54263573	missense	probably damaging	1.00
IGL01973:Ccdc150	APN	1	54300488	splice site	probably null
IGL02352:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54263545	nonsense	probably null
IGL02673:Ccdc150	APN	1	54328990	missense	probably benign	0.09
IGL03185:Ccdc150	APN	1	54300323	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54290702	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0217:Ccdc150	UTSW	1	54300430	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54329511	missense	probably benign
R0687:Ccdc150	UTSW	1	54285631	splice site	probably null
R0790:Ccdc150	UTSW	1	54277776	splice site	probably benign
R1146:Ccdc150	UTSW	1	54364971	splice site	probably benign
R1288:Ccdc150	UTSW	1	54364458	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54354636	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54367910	intron	probably benign
R1957:Ccdc150	UTSW	1	54263909	missense	probably benign	0.00
R2180:Ccdc150	UTSW	1	54272547	critical splice donor site	probably null
R2226:Ccdc150	UTSW	1	54364925	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3056:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54368310	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54278811	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54353054	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54355754	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54278715	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54364868	intron	probably benign
R5028:Ccdc150	UTSW	1	54263477	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54354647	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54263620	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54300367	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54277714	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54263599	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54368017	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54263957	splice site	probably null
R6988:Ccdc150	UTSW	1	54355709	nonsense	probably null
R7248:Ccdc150	UTSW	1	54304898	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54263337	splice site	probably null
R7322:Ccdc150	UTSW	1	54259966	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54300382	nonsense	probably null
R7647:Ccdc150	UTSW	1	54356704	missense	probably damaging	1.00
R7981:Ccdc150	UTSW	1	54368392	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54272497	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54329487	missense	probably benign	0.10
R8688:Ccdc150	UTSW	1	54367973	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54263509	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54272482	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54272485	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54260038	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54277751	missense	probably damaging	0.99
R9367:Ccdc150	UTSW	1	54285601	missense	probably damaging	1.00
R9416:Ccdc150	UTSW	1	54278831	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54281771	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54368385	nonsense	probably null
R9747:Ccdc150	UTSW	1	54259948	nonsense	probably null

Posted On

2016-08-02