Mutagenetix > Incidental Mutation

Incidental Mutation 'R3812:Ccdc150'

274091

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

040768-MU

Accession Numbers

Essential gene?

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

Stock #

R3812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54289842-54407886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54407469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1082 (M1082V)

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

Predicted Effect

probably benign
Transcript: ENSMUST00000027128
AA Change: M1082V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: M1082V

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

noncoding transcript
Transcript: ENSMUST00000159682

Predicted Effect

probably benign
Transcript: ENSMUST00000160472

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983

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: ENSMUST00000163072

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,186,967 (GRCm39)	V73A	probably benign	Het
Bpifb2	T	A	2: 153,733,871 (GRCm39)	D404E	probably benign	Het
Cyp4a31	T	C	4: 115,423,706 (GRCm39)	S137P	probably benign	Het
Cyp4f15	A	G	17: 32,905,151 (GRCm39)	I45V	probably benign	Het
Fbxw28	C	A	9: 109,167,598 (GRCm39)	C53F	possibly damaging	Het
Galntl5	T	C	5: 25,391,178 (GRCm39)	F26L	probably benign	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Lcmt2	G	A	2: 120,969,187 (GRCm39)	A632V	probably benign	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Myo1a	A	G	10: 127,543,284 (GRCm39)	N180S	possibly damaging	Het
Nlrp4a	T	C	7: 26,149,118 (GRCm39)	W242R	probably benign	Het
Or4c12b	T	A	2: 89,647,395 (GRCm39)	S242T	probably damaging	Het
Or5w18	C	T	2: 87,633,396 (GRCm39)	S221F	possibly damaging	Het
Or5w19	T	A	2: 87,698,745 (GRCm39)	S137T	probably damaging	Het
Otogl	A	G	10: 107,735,332 (GRCm39)	Y151H	probably damaging	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Polm	A	G	11: 5,779,512 (GRCm39)	F429L	possibly damaging	Het
Sco2	T	C	15: 89,257,882 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sorbs2	A	G	8: 46,216,067 (GRCm39)	T105A	probably benign	Het
Syt10	A	T	15: 89,675,000 (GRCm39)	C449S	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het
Usp34	T	A	11: 23,414,517 (GRCm39)	F2820Y	possibly damaging	Het
Vmn1r170	T	C	7: 23,305,717 (GRCm39)	S40P	probably damaging	Het
Zfp292	A	T	4: 34,810,326 (GRCm39)	L906Q	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
IGL00819:Ccdc150	APN	1	54,302,732 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCGACAACTGCTGGGAAAC -3'
(R):5'- CAAAGAGATGGGTTGGTTCTGC -3'

Sequencing Primer
(F):5'- GCAACAGGCTCTAAACACT -3'
(R):5'- AGCACACATCATGGTCTTCTAACG -3'

Posted On

2015-04-02