Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02223:Ccdc169'

285219

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: 0.095) question?

Stock #

IGL02223

Quality Score

Status

Chromosome

Chromosomal Location

55044760-55080356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55049721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 48 (N48S)

Ref Sequence

ENSEMBL: ENSMUSP00000112414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000107971] [ENSMUST00000118118] [ENSMUST00000118963] [ENSMUST00000153009] [ENSMUST00000159904] [ENSMUST00000161120]

AlphaFold

Q8BXX9

Predicted Effect

probably benign
Transcript: ENSMUST00000044116

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	8e-4	SMART
low complexity region	369	381	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC
Pfam:Senescence	431	616	9.7e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052904

SMART Domains

Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061099
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: N48S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107971

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	9e-4	SMART
low complexity region	351	369	N/A	INTRINSIC
Pfam:Senescence	373	560	3.2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118118

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	8e-4	SMART
low complexity region	369	381	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC
Pfam:Senescence	430	617	3.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118963
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655
AA Change: N48S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153009

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,506,909 (GRCm39)	W1148*	probably null	Het
Adam17	A	G	12: 21,411,706 (GRCm39)	S62P	possibly damaging	Het
Akap8	T	C	17: 32,535,621 (GRCm39)	Y131C	probably damaging	Het
Ccdc80	A	G	16: 44,915,966 (GRCm39)	T241A	probably damaging	Het
Cct7	G	T	6: 85,439,023 (GRCm39)	M112I	probably benign	Het
Cftr	G	A	6: 18,221,481 (GRCm39)	A198T	probably damaging	Het
Crk	T	C	11: 75,594,205 (GRCm39)	V264A	probably damaging	Het
Dhx34	T	C	7: 15,932,584 (GRCm39)	T1071A	probably benign	Het
Dlst	A	G	12: 85,177,692 (GRCm39)	I362V	probably benign	Het
Fat2	T	C	11: 55,163,955 (GRCm39)	E3100G	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Foxe3	C	A	4: 114,782,906 (GRCm39)	R102L	probably damaging	Het
Gale	T	C	4: 135,693,817 (GRCm39)	F162S	probably damaging	Het
Gipc2	G	A	3: 151,833,687 (GRCm39)	P198L	probably damaging	Het
Gm5258	A	G	1: 86,251,118 (GRCm39)		noncoding transcript	Het
Gpatch11	A	G	17: 79,152,608 (GRCm39)	T259A	probably benign	Het
H2-M10.3	T	C	17: 36,678,972 (GRCm39)	N32S	possibly damaging	Het
Hdlbp	T	C	1: 93,340,171 (GRCm39)	I999V	probably damaging	Het
Ibtk	A	G	9: 85,592,419 (GRCm39)		probably benign	Het
Ift46	A	G	9: 44,697,609 (GRCm39)	S165G	probably damaging	Het
Igsf1	A	G	X: 48,873,897 (GRCm39)	S389P	probably damaging	Het
Lrrd1	A	C	5: 3,900,211 (GRCm39)	N172T	probably benign	Het
Mamdc2	G	A	19: 23,336,507 (GRCm39)		probably benign	Het
Matn2	A	G	15: 34,423,864 (GRCm39)	N574S	probably benign	Het
Med1	T	C	11: 98,048,702 (GRCm39)	D683G	probably damaging	Het
Mon1a	A	G	9: 107,778,484 (GRCm39)	E236G	probably damaging	Het
Moxd2	T	A	6: 40,861,967 (GRCm39)	I202F	probably damaging	Het
Nif3l1	T	A	1: 58,487,202 (GRCm39)	Y129*	probably null	Het
Nlrp5	T	C	7: 23,129,447 (GRCm39)		probably benign	Het
Odad3	G	A	9: 21,904,908 (GRCm39)	R293C	probably damaging	Het
Or5k14	C	T	16: 58,693,057 (GRCm39)	G152E	probably damaging	Het
Pcx	T	C	19: 4,652,006 (GRCm39)	Y84H	probably damaging	Het
Pom121l2	T	C	13: 22,166,265 (GRCm39)	S179P	probably benign	Het
Rexo4	C	A	2: 26,845,511 (GRCm39)	C369F	probably damaging	Het
Rigi	T	C	4: 40,209,993 (GRCm39)	N692D	possibly damaging	Het
Scmh1	C	A	4: 120,372,416 (GRCm39)	H406Q	probably benign	Het
Slc12a8	A	G	16: 33,445,060 (GRCm39)	D372G	probably damaging	Het
Snip1	T	C	4: 124,966,545 (GRCm39)	F325S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,181 (GRCm39)		noncoding transcript	Het
Stk36	A	G	1: 74,662,496 (GRCm39)	Y538C	possibly damaging	Het
Svil	A	G	18: 5,105,879 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,155,079 (GRCm39)	T6787A	probably benign	Het
Tbcel	T	G	9: 42,363,014 (GRCm39)	M10L	probably benign	Het
Tesk2	T	A	4: 116,599,022 (GRCm39)	Y43*	probably null	Het
Tjp1	C	T	7: 64,972,349 (GRCm39)	R605Q	probably damaging	Het
Tmem65	A	G	15: 58,662,000 (GRCm39)		probably benign	Het
Tnnt2	A	G	1: 135,769,753 (GRCm39)		probably benign	Het
Trmt44	T	C	5: 35,731,989 (GRCm39)	E134G	probably benign	Het
Trpv2	T	C	11: 62,472,081 (GRCm39)	L91P	probably benign	Het
Ttn	G	A	2: 76,807,463 (GRCm39)	T90I	probably damaging	Het
Yy1	A	G	12: 108,759,466 (GRCm39)	E43G	unknown	Het

Other mutations in Ccdc169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ccdc169	APN	3	55,078,739 (GRCm39)	missense	possibly damaging	0.85
IGL01662:Ccdc169	APN	3	55,070,732 (GRCm39)	splice site	probably null
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

2015-04-16