Mutagenetix > Incidental Mutations

Incidental Mutation 'R8048:Ccdc187'

618849

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: 0.077) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26293514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 158 (D158V)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057224
AA Change: D158V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: D158V

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: D158V

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: D158V

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,410,844	L318F	probably damaging	Het
Alms1	T	A	6: 85,641,334	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883	T443I	probably benign	Het
Arhgap29	C	T	3: 121,992,901	R372W	probably damaging	Het
Astn1	T	C	1: 158,688,638	I1266T	probably benign	Het
Bsg	T	C	10: 79,709,746	V164A	probably benign	Het
C1qa	G	T	4: 136,896,610	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,863	V92A	probably benign	Het
Cngb1	T	A	8: 95,263,210	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,622,172	A285V	probably null	Het
Dsg1c	A	T	18: 20,274,767	K390M	probably damaging	Het
Dst	T	C	1: 34,190,636	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,649,758		probably null	Het
Fez2	T	C	17: 78,387,053	I303V	probably benign	Het
Ffar1	A	T	7: 30,860,578	I298N	probably benign	Het
Hpx	C	T	7: 105,595,478	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,121,802	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903	D99G	probably benign	Het
Ivl	T	A	3: 92,571,924	K278M	probably damaging	Het
Lyst	A	G	13: 13,687,645	T2589A	probably benign	Het
Madd	A	T	2: 91,154,448	M1359K	probably damaging	Het
Nav3	T	C	10: 109,764,918	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,179,698	C439*	probably null	Het
Nebl	T	C	2: 17,424,522	D266G	probably benign	Het
Oas1f	G	T	5: 120,847,537	G49V	probably damaging	Het
Oas1f	A	T	5: 120,848,416	Q144L	possibly damaging	Het
Olfr1032	T	G	2: 86,008,180	S135A	probably damaging	Het
Olfr1052	C	T	2: 86,298,328	P171S	probably benign	Het
Olfr1062	T	A	2: 86,423,307	Y123F	probably damaging	Het
Olfr134	T	C	17: 38,175,528	V148A	probably benign	Het
Olfr141	T	A	2: 86,806,171	Y276F	probably damaging	Het
Olfr1440	A	G	19: 12,394,355	I31V	not run	Het
Olfr324	A	G	11: 58,597,407	I6V	unknown	Het
Olfr711	C	T	7: 106,972,464		probably benign	Het
Olfr740	T	C	14: 50,453,916	L288P	possibly damaging	Het
Olfr917	C	T	9: 38,665,812	E11K	probably benign	Het
Pard3b	T	A	1: 62,153,989	V217E	probably damaging	Het
Pcdha2	T	A	18: 36,939,460	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,303,127	F1248L		Het
Plekha2	A	T	8: 25,063,989		probably benign	Het
Plpp4	C	T	7: 129,379,477	R151C	unknown	Het
Pramef17	T	A	4: 143,991,607	Y422F	probably benign	Het
Prdm16	A	G	4: 154,320,882	L1245P	probably damaging	Het
Prob1	G	A	18: 35,653,551	A550V	probably benign	Het
Prok1	T	C	3: 107,237,092	H65R	probably benign	Het
Ptcd1	A	G	5: 145,155,077	V404A	probably benign	Het
Sbf2	T	C	7: 110,315,082	E1631G	probably benign	Het
Sdad1	C	A	5: 92,300,089	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,910,072	A547S	probably benign	Het
Sptb	T	C	12: 76,628,559	D227G	probably benign	Het
Tbx1	A	G	16: 18,588,019	M1T	probably null	Het
Tespa1	T	A	10: 130,347,339	V51D	probably damaging	Het
Tmc7	T	C	7: 118,566,245	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,559	T23S	probably damaging	Het
Trib3	A	T	2: 152,338,633	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,183,500	V178A	probably benign	Het
Virma	T	A	4: 11,539,918	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,471,500	T254A	probably benign	Het
Vps13d	A	G	4: 145,155,567	V1152A		Het
Wdr47	T	C	3: 108,618,968	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,324,537	D676E	unknown	Het
Zc3h6	T	A	2: 129,017,014	S988R	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
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
R8461:Ccdc187	UTSW	2	26293802	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'- AGGCACTGGAAGCGCATTTG -3'
(R):5'- ACAGTTCCCTATGTGGCCTG -3'

Sequencing Primer
(F):5'- ACTGGAAGCGCATTTGTCACC -3'
(R):5'- CCTGGTCTGGCAATATCAAGGATC -3'

Posted On

2020-01-23