Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01807:Ccdc175'

155716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc175

Ensembl Gene

ENSMUSG00000021086

Gene Name

coiled-coil domain containing 175

Synonyms

4930403N07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01807

Quality Score

Status

Chromosome

Chromosomal Location

72148074-72231803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72206616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

Ref Sequence

ENSEMBL: ENSMUSP00000021494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021494]

AlphaFold

E9PVB3

Predicted Effect

probably benign
Transcript: ENSMUST00000021494
AA Change: E210G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: E210G

Domain	Start	End	E-Value	Type
coiled coil region	129	164	N/A	INTRINSIC
coiled coil region	205	235	N/A	INTRINSIC
coiled coil region	295	383	N/A	INTRINSIC
low complexity region	470	490	N/A	INTRINSIC
coiled coil region	517	537	N/A	INTRINSIC
low complexity region	803	819	N/A	INTRINSIC

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
Abcc9	G	T	6: 142,551,640 (GRCm39)	L1223M	probably damaging	Het
Ano7	A	G	1: 93,330,418 (GRCm39)	E814G	possibly damaging	Het
Atf1	T	C	15: 100,149,945 (GRCm39)		probably benign	Het
Bco2	T	C	9: 50,457,158 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,938,032 (GRCm39)	I2625V	probably benign	Het
Bub1	A	G	2: 127,654,897 (GRCm39)	S545P	probably benign	Het
Cacna1i	T	A	15: 80,258,348 (GRCm39)	I1173N	probably damaging	Het
Ccl2	G	A	11: 81,926,513 (GRCm39)	G9D	possibly damaging	Het
Chmp2b	T	A	16: 65,337,091 (GRCm39)	T189S	probably benign	Het
Col4a1	A	T	8: 11,297,056 (GRCm39)		probably benign	Het
Ecm1	A	G	3: 95,643,891 (GRCm39)	S236P	probably damaging	Het
Epha8	A	G	4: 136,658,993 (GRCm39)	V887A	probably benign	Het
Fam227a	T	C	15: 79,533,856 (GRCm39)	M36V	probably benign	Het
Fbxo15	T	A	18: 84,999,506 (GRCm39)		probably benign	Het
Mtmr4	A	G	11: 87,494,976 (GRCm39)	I423V	possibly damaging	Het
Ngly1	C	T	14: 16,290,873 (GRCm38)	L452F	probably benign	Het
Or52u1	T	A	7: 104,237,091 (GRCm39)	W27R	probably damaging	Het
Or5ac15	T	C	16: 58,939,936 (GRCm39)	T166A	possibly damaging	Het
Pak2	T	C	16: 31,856,097 (GRCm39)	K247E	probably damaging	Het
Pola2	A	G	19: 6,003,187 (GRCm39)		probably benign	Het
Ppp1r9a	C	T	6: 5,158,248 (GRCm39)	Q1219*	probably null	Het
Rasgrf1	T	C	9: 89,873,566 (GRCm39)	I625T	probably damaging	Het
Rpap1	T	C	2: 119,613,189 (GRCm39)	T120A	possibly damaging	Het
Scin	T	C	12: 40,134,288 (GRCm39)	Y252C	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smc1b	T	A	15: 84,980,946 (GRCm39)	D774V	probably damaging	Het
Uba6	C	T	5: 86,270,270 (GRCm39)	R838Q	probably damaging	Het
Ulk4	A	G	9: 121,084,251 (GRCm39)	S105P	probably damaging	Het
Vwa3a	G	A	7: 120,374,729 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,345,375 (GRCm39)	T2539A	probably benign	Het
Zfpm2	T	C	15: 40,616,452 (GRCm39)		probably null	Het

Other mutations in Ccdc175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Ccdc175	APN	12	72,177,916 (GRCm39)	splice site	probably benign
IGL01805:Ccdc175	APN	12	72,176,003 (GRCm39)	splice site	probably benign
IGL01985:Ccdc175	APN	12	72,175,052 (GRCm39)	nonsense	probably null
IGL02719:Ccdc175	APN	12	72,221,899 (GRCm39)	missense	probably damaging	0.97
IGL02944:Ccdc175	APN	12	72,164,667 (GRCm39)	missense	probably benign	0.02
IGL03113:Ccdc175	APN	12	72,191,557 (GRCm39)	missense	probably benign	0.00
IGL03143:Ccdc175	APN	12	72,182,832 (GRCm39)	missense	probably benign	0.03
IGL03356:Ccdc175	APN	12	72,186,667 (GRCm39)	splice site	probably null
R0009:Ccdc175	UTSW	12	72,182,739 (GRCm39)	missense	possibly damaging	0.87
R0233:Ccdc175	UTSW	12	72,152,650 (GRCm39)	missense	probably benign	0.00
R0233:Ccdc175	UTSW	12	72,152,650 (GRCm39)	missense	probably benign	0.00
R0609:Ccdc175	UTSW	12	72,204,281 (GRCm39)	missense	probably benign	0.07
R0706:Ccdc175	UTSW	12	72,186,722 (GRCm39)	missense	probably benign	0.04
R0948:Ccdc175	UTSW	12	72,177,897 (GRCm39)	missense	probably damaging	1.00
R1054:Ccdc175	UTSW	12	72,225,318 (GRCm39)	missense	possibly damaging	0.85
R1166:Ccdc175	UTSW	12	72,152,706 (GRCm39)	missense	probably damaging	1.00
R1481:Ccdc175	UTSW	12	72,148,722 (GRCm39)	unclassified	probably benign
R1860:Ccdc175	UTSW	12	72,152,700 (GRCm39)	missense	probably benign
R2077:Ccdc175	UTSW	12	72,186,794 (GRCm39)	missense	possibly damaging	0.54
R3806:Ccdc175	UTSW	12	72,227,598 (GRCm39)	missense	possibly damaging	0.72
R3879:Ccdc175	UTSW	12	72,182,792 (GRCm39)	missense	probably damaging	1.00
R3887:Ccdc175	UTSW	12	72,182,822 (GRCm39)	missense	possibly damaging	0.65
R4557:Ccdc175	UTSW	12	72,175,080 (GRCm39)	missense	probably benign	0.08
R4585:Ccdc175	UTSW	12	72,221,953 (GRCm39)	missense	possibly damaging	0.65
R4686:Ccdc175	UTSW	12	72,159,052 (GRCm39)	missense	probably damaging	1.00
R4766:Ccdc175	UTSW	12	72,158,979 (GRCm39)	missense	probably benign	0.00
R4773:Ccdc175	UTSW	12	72,182,822 (GRCm39)	missense	probably damaging	0.99
R4909:Ccdc175	UTSW	12	72,206,527 (GRCm39)	missense	probably damaging	1.00
R4964:Ccdc175	UTSW	12	72,227,619 (GRCm39)	missense	probably damaging	1.00
R5338:Ccdc175	UTSW	12	72,231,745 (GRCm39)	missense	probably damaging	0.99
R5539:Ccdc175	UTSW	12	72,191,587 (GRCm39)	missense	probably benign	0.00
R5897:Ccdc175	UTSW	12	72,206,578 (GRCm39)	missense	probably benign	0.06
R6128:Ccdc175	UTSW	12	72,175,933 (GRCm39)	missense	probably benign	0.07
R6520:Ccdc175	UTSW	12	72,186,804 (GRCm39)	missense	probably damaging	0.98
R6523:Ccdc175	UTSW	12	72,191,565 (GRCm39)	missense	probably benign	0.01
R6917:Ccdc175	UTSW	12	72,231,679 (GRCm39)	missense	probably damaging	1.00
R7035:Ccdc175	UTSW	12	72,202,419 (GRCm39)	missense	probably benign	0.01
R7097:Ccdc175	UTSW	12	72,175,183 (GRCm39)	splice site	probably null
R7339:Ccdc175	UTSW	12	72,182,815 (GRCm39)	missense	probably damaging	1.00
R7450:Ccdc175	UTSW	12	72,202,447 (GRCm39)	missense	possibly damaging	0.93
R7481:Ccdc175	UTSW	12	72,202,398 (GRCm39)	missense	probably benign	0.00
R7676:Ccdc175	UTSW	12	72,148,821 (GRCm39)	missense	possibly damaging	0.57
R8045:Ccdc175	UTSW	12	72,202,676 (GRCm39)	intron	probably benign
R8383:Ccdc175	UTSW	12	72,155,952 (GRCm39)	missense	possibly damaging	0.95
R8470:Ccdc175	UTSW	12	72,202,392 (GRCm39)	missense	probably damaging	0.97
R9211:Ccdc175	UTSW	12	72,153,458 (GRCm39)	missense	probably damaging	1.00
R9739:Ccdc175	UTSW	12	72,186,792 (GRCm39)	missense	probably benign	0.00
Z1088:Ccdc175	UTSW	12	72,175,153 (GRCm39)	missense	probably benign	0.01
Z1176:Ccdc175	UTSW	12	72,159,082 (GRCm39)	missense	possibly damaging	0.90

Posted On

2014-02-04