Mutagenetix > Incidental Mutation

Incidental Mutation 'R6842:Ccdc127'

533921

Institutional Source

Beutler Lab

Gene Symbol

Ccdc127

Ensembl Gene

ENSMUSG00000021578

Gene Name

coiled-coil domain containing 127

Synonyms

5430420E17Rik, 0610011N22Rik

MMRRC Submission

044948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6842 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74498436-74513902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74505088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 212 (I212T)

Ref Sequence

ENSEMBL: ENSMUSP00000123805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022063] [ENSMUST00000022064] [ENSMUST00000159931] [ENSMUST00000160021] [ENSMUST00000162376] [ENSMUST00000162672]

AlphaFold

Q3TC33

Predicted Effect

probably damaging
Transcript: ENSMUST00000022063
AA Change: I212T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022063
Gene: ENSMUSG00000021578
AA Change: I212T

Domain	Start	End	E-Value	Type
coiled coil region	78	140	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022064

SMART Domains

Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	208	417	8e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159931

SMART Domains

Protein: ENSMUSP00000124009
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160021

SMART Domains

Protein: ENSMUSP00000124193
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162376
AA Change: I212T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123805
Gene: ENSMUSG00000021578
AA Change: I212T

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,432 (GRCm39)	N69S	probably benign	Het
Adgrl3	C	T	5: 81,888,927 (GRCm39)	A1042V	probably damaging	Het
Armh3	A	G	19: 45,807,416 (GRCm39)	V660A	probably benign	Het
C1s2	T	A	6: 124,604,461 (GRCm39)	H395L	probably benign	Het
Cacna1e	A	G	1: 154,358,863 (GRCm39)	I307T	probably damaging	Het
Cap2	T	C	13: 46,800,101 (GRCm39)	S381P	probably damaging	Het
Cbfa2t2	A	G	2: 154,365,965 (GRCm39)	T392A	probably benign	Het
Cela3a	A	G	4: 137,132,979 (GRCm39)	V91A	probably benign	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Csmd2	T	C	4: 128,402,952 (GRCm39)	F2347L	possibly damaging	Het
Ddx19a	A	G	8: 111,705,257 (GRCm39)	V288A	possibly damaging	Het
Fbxl5	T	C	5: 43,930,928 (GRCm39)	E53G	probably damaging	Het
Fbxw26	A	T	9: 109,553,988 (GRCm39)	I217N	probably damaging	Het
Fgfr1op2	T	A	6: 146,491,536 (GRCm39)		probably null	Het
Ighv1-37	A	T	12: 114,860,275 (GRCm39)	I6N	probably damaging	Het
Klhdc10	T	C	6: 30,439,781 (GRCm39)	L128P	probably damaging	Het
Lypla1	C	T	1: 4,902,563 (GRCm39)	S24F	probably benign	Het
Mme	T	A	3: 63,269,465 (GRCm39)	D591E	probably damaging	Het
Mmp1b	T	A	9: 7,384,888 (GRCm39)	I254F	probably damaging	Het
Msr1	T	C	8: 40,085,866 (GRCm39)	M5V	probably benign	Het
Myh8	A	G	11: 67,175,481 (GRCm39)	D312G	probably damaging	Het
Nav2	T	C	7: 49,107,917 (GRCm39)	Y709H	possibly damaging	Het
Oas1g	T	C	5: 121,025,621 (GRCm39)	E2G	probably benign	Het
Ocm	T	A	5: 143,962,509 (GRCm39)	I6F	unknown	Het
Odad2	C	T	18: 7,268,401 (GRCm39)	D373N	probably benign	Het
Or13f5	T	C	4: 52,825,576 (GRCm39)	Y60H	probably damaging	Het
Or2ag12	T	C	7: 106,277,093 (GRCm39)	Y200C	probably damaging	Het
Or8a1b	T	C	9: 37,622,885 (GRCm39)	N230S	probably benign	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pax1	A	G	2: 147,215,640 (GRCm39)	D419G	probably benign	Het
Plbd1	T	A	6: 136,612,612 (GRCm39)	I194F	probably benign	Het
Prdx6	A	T	1: 161,074,940 (GRCm39)	C47S	probably damaging	Het
Sec24d	T	C	3: 123,136,868 (GRCm39)	S534P	probably benign	Het
Sgk3	T	C	1: 9,968,979 (GRCm39)	V452A	probably benign	Het
Sipa1l1	T	C	12: 82,467,320 (GRCm39)	V1177A	probably benign	Het
Tgfbr1	T	C	4: 47,383,757 (GRCm39)	C32R	probably damaging	Het
Trim66	T	C	7: 109,059,983 (GRCm39)	N801S	probably benign	Het
Utp6	C	T	11: 79,831,775 (GRCm39)	S504N	probably benign	Het
Wdsub1	A	C	2: 59,708,532 (GRCm39)	S114A	probably benign	Het
Wfikkn2	T	C	11: 94,128,866 (GRCm39)	E425G	probably damaging	Het
Zfp956	C	T	6: 47,940,763 (GRCm39)	T374I	possibly damaging	Het

Other mutations in Ccdc127

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02524:Ccdc127	APN	13	74,501,016 (GRCm39)	missense	probably damaging	1.00
IGL02715:Ccdc127	APN	13	74,504,893 (GRCm39)	missense	probably benign	0.00
R0295:Ccdc127	UTSW	13	74,504,989 (GRCm39)	missense	probably damaging	1.00
R1428:Ccdc127	UTSW	13	74,505,034 (GRCm39)	missense	probably benign	0.37
R1861:Ccdc127	UTSW	13	74,505,098 (GRCm39)	missense	possibly damaging	0.95
R4671:Ccdc127	UTSW	13	74,505,164 (GRCm39)	nonsense	probably null
R4738:Ccdc127	UTSW	13	74,505,187 (GRCm39)	intron	probably benign
R5719:Ccdc127	UTSW	13	74,505,187 (GRCm39)	intron	probably benign
R6210:Ccdc127	UTSW	13	74,505,040 (GRCm39)	missense	probably benign	0.00
R6742:Ccdc127	UTSW	13	74,501,042 (GRCm39)	missense	probably damaging	1.00
R7046:Ccdc127	UTSW	13	74,500,994 (GRCm39)	missense	probably damaging	1.00
R7161:Ccdc127	UTSW	13	74,500,996 (GRCm39)	missense	probably damaging	1.00
R7912:Ccdc127	UTSW	13	74,505,151 (GRCm39)	missense	probably damaging	1.00
R8230:Ccdc127	UTSW	13	74,508,751 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGAGCTGCCTGCAAGAAG -3'
(R):5'- TTTTGGTGGCAAAGGAACAG -3'

Sequencing Primer
(F):5'- CTGCCTGCAAGAAGAGGATGAC -3'
(R):5'- AGACTGCAGACTGCCATGG -3'

Posted On

2018-09-12