Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Ccdc175'

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94211

Institutional Source

Beutler Lab

Gene Symbol

Ccdc175

Ensembl Gene

ENSMUSG00000021086

Gene Name

coiled-coil domain containing 175

Synonyms

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72101300-72185029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72178544 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 113 (I113T)

Ref Sequence

ENSEMBL: ENSMUSP00000021494 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021494
AA Change: I113T

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

SMART Domains

Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: I113T

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: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Ccdc175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Ccdc175	APN	12	72131142	splice site	probably benign
IGL01805:Ccdc175	APN	12	72129229	splice site	probably benign
IGL01807:Ccdc175	APN	12	72159842	missense	probably benign	0.02
IGL01985:Ccdc175	APN	12	72128278	nonsense	probably null
IGL02719:Ccdc175	APN	12	72175125	missense	probably damaging	0.97
IGL02944:Ccdc175	APN	12	72117893	missense	probably benign	0.02
IGL03113:Ccdc175	APN	12	72144783	missense	probably benign	0.00
IGL03143:Ccdc175	APN	12	72136058	missense	probably benign	0.03
IGL03356:Ccdc175	APN	12	72139893	splice site	probably null
R0009:Ccdc175	UTSW	12	72135965	missense	possibly damaging	0.87
R0233:Ccdc175	UTSW	12	72105876	missense	probably benign	0.00
R0233:Ccdc175	UTSW	12	72105876	missense	probably benign	0.00
R0609:Ccdc175	UTSW	12	72157507	missense	probably benign	0.07
R0706:Ccdc175	UTSW	12	72139948	missense	probably benign	0.04
R0948:Ccdc175	UTSW	12	72131123	missense	probably damaging	1.00
R1166:Ccdc175	UTSW	12	72105932	missense	probably damaging	1.00
R1481:Ccdc175	UTSW	12	72101948	unclassified	probably benign
R1860:Ccdc175	UTSW	12	72105926	missense	probably benign
R2077:Ccdc175	UTSW	12	72140020	missense	possibly damaging	0.54
R3806:Ccdc175	UTSW	12	72180824	missense	possibly damaging	0.72
R3879:Ccdc175	UTSW	12	72136018	missense	probably damaging	1.00
R3887:Ccdc175	UTSW	12	72136048	missense	possibly damaging	0.65
R4557:Ccdc175	UTSW	12	72128306	missense	probably benign	0.08
R4585:Ccdc175	UTSW	12	72175179	missense	possibly damaging	0.65
R4686:Ccdc175	UTSW	12	72112278	missense	probably damaging	1.00
R4766:Ccdc175	UTSW	12	72112205	missense	probably benign	0.00
R4773:Ccdc175	UTSW	12	72136048	missense	probably damaging	0.99
R4909:Ccdc175	UTSW	12	72159753	missense	probably damaging	1.00
R4964:Ccdc175	UTSW	12	72180845	missense	probably damaging	1.00
R5338:Ccdc175	UTSW	12	72184971	missense	probably damaging	0.99
R5539:Ccdc175	UTSW	12	72144813	missense	probably benign	0.00
R5897:Ccdc175	UTSW	12	72159804	missense	probably benign	0.06
R6128:Ccdc175	UTSW	12	72129159	missense	probably benign	0.07
R6520:Ccdc175	UTSW	12	72140030	missense	probably damaging	0.98
R6523:Ccdc175	UTSW	12	72144791	missense	probably benign	0.01
R6917:Ccdc175	UTSW	12	72184905	missense	probably damaging	1.00
R7035:Ccdc175	UTSW	12	72155645	missense	probably benign	0.01
R7097:Ccdc175	UTSW	12	72128409	splice site	probably null
R7339:Ccdc175	UTSW	12	72136041	missense	probably damaging	1.00
R7450:Ccdc175	UTSW	12	72155673	missense	possibly damaging	0.93
R7481:Ccdc175	UTSW	12	72155624	missense	probably benign	0.00
R7676:Ccdc175	UTSW	12	72102047	missense	possibly damaging	0.57
R8045:Ccdc175	UTSW	12	72155902	intron	probably benign
R8383:Ccdc175	UTSW	12	72109178	missense	possibly damaging	0.95
R8470:Ccdc175	UTSW	12	72155618	missense	probably damaging	0.97
Z1088:Ccdc175	UTSW	12	72128379	missense	probably benign	0.01
Z1176:Ccdc175	UTSW	12	72112308	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCACCAAAAGTCACATGAGGGATTGC -3'
(R):5'- CGGATATAGGTCATCCTCTTTCCCAGC -3'

Sequencing Primer
(F):5'- TCACATGAGGGATTGCTACAG -3'
(R):5'- AAAACACGGTGGAACTGCTG -3'

Posted On

2014-01-05