Mutagenetix > Incidental Mutations

Incidental Mutation 'R8461:Ccdc187'

655255

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26293802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 62 (L62P)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]

AlphaFold

Q8C5V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057224
AA Change: L62P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: L62P

Domain	Start	End	E-Value	Type
low complexity region	116	132	N/A	INTRINSIC
low complexity region	536	557	N/A	INTRINSIC
coiled coil region	605	632	N/A	INTRINSIC
coiled coil region	717	745	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000217256
AA Change: L62P

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: L62P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4921539E11Rik	T	C	4: 103,255,515	D132G	probably benign	Het
Abca16	T	C	7: 120,436,695	F334L	possibly damaging	Het
Ache	T	C	5: 137,290,320	F96S	probably damaging	Het
Actg1	T	C	11: 120,348,184	T27A	unknown	Het
Ankrd27	T	C	7: 35,627,486	L752P	probably damaging	Het
Atp1a1	T	A	3: 101,589,089	T417S	probably benign	Het
Atp6v0a1	T	G	11: 101,044,574	L653R	possibly damaging	Het
Aurkb	T	C	11: 69,050,901	V293A	probably damaging	Het
C2cd5	A	T	6: 143,035,076	D654E	probably damaging	Het
Cacna1s	T	C	1: 136,073,702	V297A	possibly damaging	Het
Catsperg2	T	C	7: 29,705,319	D773G	possibly damaging	Het
Cdh2	A	G	18: 16,650,465	V69A	probably benign	Het
D430041D05Rik	A	G	2: 104,167,935	V1156A	possibly damaging	Het
Defb37	G	A	8: 18,986,370	H45Y	unknown	Het
Dgke	T	C	11: 89,048,993	M367V	possibly damaging	Het
Dnah1	T	C	14: 31,305,958	K640R	probably benign	Het
Gm5478	A	T	15: 101,646,217	L148Q	probably damaging	Het
Hhla1	A	T	15: 65,923,874	S494R	probably benign	Het
Kcne4	G	A	1: 78,817,716	S27N	probably benign	Het
Klhdc7b	A	T	15: 89,387,621	H244L	probably damaging	Het
Lrrc40	T	C	3: 158,058,734	S429P	possibly damaging	Het
Map3k21	A	T	8: 125,944,622	D883V	probably benign	Het
Med4	T	C	14: 73,518,028	S259P	unknown	Het
Mrm3	T	C	11: 76,244,332	I123T	probably damaging	Het
Mrpl1	T	A	5: 96,213,787	V11D	probably damaging	Het
Myl1	G	A	1: 66,944,835	P24L	unknown	Het
Necap2	T	C	4: 141,070,220	K168R	probably damaging	Het
Nnt	A	G	13: 119,368,502	S559P	unknown	Het
Nox4	T	C	7: 87,317,271	F197L	probably damaging	Het
Nup93	T	C	8: 94,281,335		probably null	Het
Nxph2	T	C	2: 23,321,517	V10A	unknown	Het
Olfr1	T	A	11: 73,395,156	I289F	probably damaging	Het
Olfr1085	G	A	2: 86,657,546	T304I	probably benign	Het
Olfr251	T	A	9: 38,378,481	V194D	probably damaging	Het
P2ry2	G	T	7: 100,998,688	R137S	possibly damaging	Het
Plxnb3	T	C	X: 73,759,497	Y324H	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Ppme1	T	C	7: 100,371,805	S7G	probably benign	Het
Rabep1	T	A	11: 70,884,855	M85K	possibly damaging	Het
Ranbp2	T	C	10: 58,476,394	Y979H	probably damaging	Het
Rapgef5	T	C	12: 117,714,109	S360P	probably benign	Het
Rbm33	T	A	5: 28,387,972	H623Q	probably damaging	Het
Rev1	G	T	1: 38,083,787	T450K	possibly damaging	Het
Sec23ip	T	A	7: 128,772,202	L716Q	probably benign	Het
Sp2	T	C	11: 96,955,913	T535A	possibly damaging	Het
Syne1	A	G	10: 5,061,463	S61P	probably benign	Het
Tcf4	T	C	18: 69,465,430	V72A	probably benign	Het
Tmem131	G	A	1: 36,794,821	S1726F	probably damaging	Het
Trim13	T	C	14: 61,605,472	Y313H	probably benign	Het
Ttn	A	G	2: 76,781,093	V17365A	possibly damaging	Het
Uap1l1	G	A	2: 25,365,410	A69V	probably benign	Het
Upp2	A	G	2: 58,780,056	D258G	probably benign	Het
Vmn1r44	A	T	6: 89,893,719	H149L	possibly damaging	Het
Zbtb49	T	C	5: 38,201,109	D600G	probably benign	Het
Zfp869	G	T	8: 69,707,655	H89Q	probably benign	Het

Other mutations in Ccdc187

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Ccdc187	APN	2	26280948	missense	probably benign
IGL02989:Ccdc187	APN	2	26276431	missense	possibly damaging	0.92
IGL03017:Ccdc187	APN	2	26280966	missense	probably benign
IGL03059:Ccdc187	APN	2	26294241	missense	probably null	1.00
IGL03117:Ccdc187	APN	2	26287968	missense	possibly damaging	0.95
R0026:Ccdc187	UTSW	2	26281353	missense	probably benign	0.00
R0144:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R1078:Ccdc187	UTSW	2	26294377	missense	probably damaging	0.98
R1226:Ccdc187	UTSW	2	26276121	missense	probably damaging	0.99
R1624:Ccdc187	UTSW	2	26281075	missense	probably benign
R1733:Ccdc187	UTSW	2	26293658	missense	possibly damaging	0.93
R1851:Ccdc187	UTSW	2	26276068	missense	probably benign	0.17
R2304:Ccdc187	UTSW	2	26281017	missense	possibly damaging	0.94
R4278:Ccdc187	UTSW	2	26282227	intron	probably benign
R4344:Ccdc187	UTSW	2	26280669	missense	probably damaging	1.00
R5151:Ccdc187	UTSW	2	26293439	missense	probably damaging	1.00
R5416:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5537:Ccdc187	UTSW	2	26276225	missense	probably benign	0.32
R5761:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5762:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5865:Ccdc187	UTSW	2	26293368	missense	probably benign	0.00
R5925:Ccdc187	UTSW	2	26293581	missense	probably benign
R6261:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R6803:Ccdc187	UTSW	2	26289779	missense	probably benign	0.02
R6888:Ccdc187	UTSW	2	26289734	missense	probably damaging	0.98
R6958:Ccdc187	UTSW	2	26289719	missense	probably benign
R7006:Ccdc187	UTSW	2	26281090	missense	probably benign	0.05
R7358:Ccdc187	UTSW	2	26255995	missense	probably damaging	0.97
R7818:Ccdc187	UTSW	2	26276174	missense	possibly damaging	0.61
R8048:Ccdc187	UTSW	2	26293514	missense	possibly damaging	0.53
R8327:Ccdc187	UTSW	2	26280618	missense	probably benign	0.01
R8353:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8425:Ccdc187	UTSW	2	26281536	missense	probably damaging	0.99
R8453:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8534:Ccdc187	UTSW	2	26275565	missense	possibly damaging	0.61
R8694:Ccdc187	UTSW	2	26275493	missense	probably benign	0.02
R8745:Ccdc187	UTSW	2	26280514	missense	probably damaging	0.99
R8958:Ccdc187	UTSW	2	26275565	missense	probably benign	0.02
R8972:Ccdc187	UTSW	2	26281067	missense	probably benign
R9214:Ccdc187	UTSW	2	26293397	missense	probably benign	0.19
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CATGAGAAAGTGTGCATGATTCATG -3'
(R):5'- GTCAGGAGATGTCCATGTGG -3'

Sequencing Primer
(F):5'- AGACATTCTGCCGGATGAC -3'
(R):5'- GGTGGAGGAATTTTCTGGTTCC -3'

Posted On

2020-10-20