Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Ccdc175'

592468

Institutional Source

Beutler Lab

Gene Symbol

Ccdc175

Ensembl Gene

ENSMUSG00000021086

Gene Name

coiled-coil domain containing 175

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72101300-72185029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72102047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 779 (Q779L)

Ref Sequence

ENSEMBL: ENSMUSP00000021494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021494] [ENSMUST00000057257] [ENSMUST00000117449]

AlphaFold

E9PVB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021494
AA Change: Q779L

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: Q779L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057257

SMART Domains

Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078

Domain	Start	End	E-Value	Type
Pfam:DUF766	9	300	3.6e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117449

SMART Domains

Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078

Domain	Start	End	E-Value	Type
Pfam:DUF766	3	295	2.3e-145	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	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
R1054:Ccdc175	UTSW	12	72178544	missense	possibly damaging	0.85
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
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
R9211:Ccdc175	UTSW	12	72106684	missense	probably damaging	1.00
R9739:Ccdc175	UTSW	12	72140018	missense	probably benign	0.00
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'- AAGTTAGTCCCCGAGTCTGCTC -3'
(R):5'- TGCCTCTGCAGAATTGTAACC -3'

Sequencing Primer
(F):5'- CATGGCAACTCTGAAGACTTCTACTG -3'
(R):5'- CTCTGCAGAATTGTAACCTTTTTATC -3'

Posted On

2019-11-12