Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01017:Ccdc169'

53490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc169

Ensembl Gene

ENSMUSG00000048655

Gene Name

coiled-coil domain containing 169

Synonyms

A730037C10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL01017

Quality Score

Status

Chromosome

Chromosomal Location

55044760-55080356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55078739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000054771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000118963] [ENSMUST00000159904] [ENSMUST00000161120]

AlphaFold

Q8BXX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052904
AA Change: V118A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655
AA Change: V118A

Domain	Start	End	E-Value	Type
Pfam:DUF4600	1	100	2e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061099
AA Change: V200A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: V200A

Domain	Start	End	E-Value	Type
Pfam:DUF4600	54	181	1.8e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118963

SMART Domains

Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	53	182	1.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159904

SMART Domains

Protein: ENSMUSP00000123900
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	1	79	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161120

SMART Domains

Protein: ENSMUSP00000125131
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	1	79	1.1e-32	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	G	A	5: 88,607,218 (GRCm39)	A29T	probably damaging	Het
Ankrd11	T	C	8: 123,621,467 (GRCm39)	K795R	probably damaging	Het
Atg3	T	C	16: 45,004,174 (GRCm39)		probably null	Het
Cdr2l	C	A	11: 115,283,564 (GRCm39)	Q141K	probably damaging	Het
Cts3	T	A	13: 61,715,988 (GRCm39)	I93F	probably damaging	Het
Eif2ak2	A	G	17: 79,171,287 (GRCm39)	L372S	probably damaging	Het
Elovl5	T	C	9: 77,888,853 (GRCm39)	I240T	possibly damaging	Het
Farp1	C	T	14: 121,510,186 (GRCm39)	A728V	possibly damaging	Het
Fbln1	A	G	15: 85,128,390 (GRCm39)	D529G	possibly damaging	Het
Flnb	G	T	14: 7,917,390 (GRCm38)		probably benign	Het
Gm14401	A	T	2: 176,778,625 (GRCm39)	H237L	probably damaging	Het
Hivep3	T	A	4: 119,956,443 (GRCm39)	H1586Q	probably damaging	Het
Igkv12-98	T	A	6: 68,548,093 (GRCm39)	L74*	probably null	Het
Iigp1c	T	A	18: 60,378,508 (GRCm39)	D14E	possibly damaging	Het
Ktn1	T	C	14: 47,946,335 (GRCm39)	S917P	probably benign	Het
Lama3	T	C	18: 12,574,200 (GRCm39)		probably null	Het
Lamb1	A	G	12: 31,351,063 (GRCm39)	D723G	possibly damaging	Het
Lrrc39	A	T	3: 116,364,500 (GRCm39)	R130S	probably benign	Het
Mcm3	A	C	1: 20,875,039 (GRCm39)		probably null	Het
Muc19	T	G	15: 91,764,901 (GRCm39)		noncoding transcript	Het
Necap2	A	G	4: 140,794,879 (GRCm39)	F266S	probably damaging	Het
Nfil3	C	T	13: 53,122,055 (GRCm39)	G283D	probably damaging	Het
Nlrp4e	A	T	7: 23,021,092 (GRCm39)	K526N	possibly damaging	Het
Or13a20	A	G	7: 140,232,389 (GRCm39)	T166A	probably benign	Het
Or4p7	T	A	2: 88,222,245 (GRCm39)	V218E	possibly damaging	Het
Pelp1	G	A	11: 70,287,720 (GRCm39)	R401W	probably damaging	Het
Phldb3	G	T	7: 24,328,295 (GRCm39)	C613F	probably damaging	Het
Ppp1ca	T	C	19: 4,243,110 (GRCm39)	Y93H	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,476 (GRCm39)	E105G	probably benign	Het
Prb1a	G	T	6: 132,184,194 (GRCm39)	Q480K	unknown	Het
Ryr1	A	T	7: 28,781,968 (GRCm39)	I2007N	probably damaging	Het
Scgb1b27	A	G	7: 33,721,228 (GRCm39)	T39A	probably damaging	Het
Serpinb3b	T	C	1: 107,082,187 (GRCm39)	D359G	probably benign	Het
Sgo2b	G	T	8: 64,379,557 (GRCm39)	R1092S	probably benign	Het
Sh3pxd2b	C	A	11: 32,353,993 (GRCm39)	S187*	probably null	Het
Slc11a1	T	A	1: 74,418,955 (GRCm39)	L92H	probably damaging	Het
Smc3	T	C	19: 53,617,758 (GRCm39)	V585A	probably damaging	Het
Sp6	A	G	11: 96,913,429 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,871 (GRCm39)	I307F	possibly damaging	Het
Tfpi2	T	A	6: 3,965,359 (GRCm39)	H33L	probably benign	Het
Tnxb	T	A	17: 34,912,782 (GRCm39)	D1642E	probably damaging	Het
Ttc1	T	C	11: 43,621,320 (GRCm39)	N287S	probably damaging	Het
Ttc9	G	A	12: 81,678,536 (GRCm39)	V120I	possibly damaging	Het
Umps	A	G	16: 33,787,272 (GRCm39)	V27A	probably damaging	Het
Usp50	C	A	2: 126,551,334 (GRCm39)	M48I	probably damaging	Het
Vmn1r76	A	T	7: 11,664,309 (GRCm39)	C267S	possibly damaging	Het
Wee1	A	T	7: 109,725,055 (GRCm39)	D275V	possibly damaging	Het
Zmym6	C	T	4: 126,982,152 (GRCm39)	P63L	probably benign	Het

Other mutations in Ccdc169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Ccdc169	APN	3	55,070,732 (GRCm39)	splice site	probably null
IGL02223:Ccdc169	APN	3	55,049,721 (GRCm39)	missense	probably benign
IGL02272:Ccdc169	APN	3	55,058,169 (GRCm39)	missense	probably damaging	0.99
IGL02329:Ccdc169	APN	3	55,078,702 (GRCm39)	missense	probably benign
R4603:Ccdc169	UTSW	3	55,058,226 (GRCm39)	missense	probably benign	0.01
R5347:Ccdc169	UTSW	3	55,049,740 (GRCm39)	splice site	probably benign
R5798:Ccdc169	UTSW	3	55,047,545 (GRCm39)	missense	possibly damaging	0.94
R5951:Ccdc169	UTSW	3	55,047,562 (GRCm39)	missense	probably damaging	0.99
R6562:Ccdc169	UTSW	3	55,058,235 (GRCm39)	missense	probably damaging	0.98
R7599:Ccdc169	UTSW	3	55,047,530 (GRCm39)	missense	probably damaging	0.99
R8766:Ccdc169	UTSW	3	55,058,245 (GRCm39)	critical splice donor site	probably null
R8777:Ccdc169	UTSW	3	55,058,334 (GRCm39)	missense	probably damaging	0.99
R8777-TAIL:Ccdc169	UTSW	3	55,058,334 (GRCm39)	missense	probably damaging	0.99
R8919:Ccdc169	UTSW	3	55,058,368 (GRCm39)	critical splice donor site	probably null
X0011:Ccdc169	UTSW	3	55,064,503 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28