Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Ccdc175'

274617

Institutional Source

Beutler Lab

Gene Symbol

Ccdc175

Ensembl Gene

ENSMUSG00000021086

Gene Name

coiled-coil domain containing 175

Synonyms

4930403N07Rik

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72148074-72231803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72227598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 62 (T62A)

Ref Sequence

ENSEMBL: ENSMUSP00000021494 (fasta)

Gene Model

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

AlphaFold

E9PVB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021494
AA Change: T62A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: T62A

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Clcnka	T	C	4: 141,114,601 (GRCm39)	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fam131a	G	A	16: 20,514,608 (GRCm39)	V70M	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Ip6k3	T	C	17: 27,363,974 (GRCm39)	H358R	probably damaging	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or5d18	A	G	2: 87,864,911 (GRCm39)	S191P	possibly damaging	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	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
IGL01807:Ccdc175	APN	12	72,206,616 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATCTGAACTGACGTTGG -3'
(R):5'- GTGTGTACACTATGCAATCAATAGG -3'

Sequencing Primer
(F):5'- CAATCTGAACTGACGTTGGTTGGTC -3'
(R):5'- GGAAACATTAAAAGGAAATTGGTGAC -3'

Posted On

2015-04-02