Mutagenetix > Incidental Mutations

Incidental Mutation 'R8958:Ccdc187'

682139

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8958 (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 C at 26275565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 860 (S860A)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

Predicted Effect

probably benign
Transcript: ENSMUST00000057224
AA Change: S860A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: S860A

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: S860A

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: S899A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,349,933	N157K	possibly damaging	Het
Adck2	T	C	6: 39,583,914	V412A	probably benign	Het
Adgrb3	C	T	1: 25,826,109	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,929,812	D643G	probably damaging	Het
Arvcf	A	G	16: 18,402,626	Q597R	probably damaging	Het
Brdt	T	C	5: 107,378,011	V910A	probably benign	Het
Cachd1	A	G	4: 100,994,086	D1167G	probably benign	Het
Ccdc28a	T	C	10: 18,214,178	I113M	probably benign	Het
Cdc5l	T	C	17: 45,393,201	N699S	probably benign	Het
Cenpf	A	T	1: 189,653,153	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,475,014	I38N	probably benign	Het
Chrdl2	C	A	7: 100,020,922	P84Q	probably damaging	Het
Cltc	A	T	11: 86,695,577	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 195,129,935	G27R	probably damaging	Het
Crebbp	G	A	16: 4,213,308		probably benign	Het
Dync1h1	G	A	12: 110,620,371	E929K	probably benign	Het
E2f7	C	A	10: 110,765,754	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,425,439	D215G	probably benign	Het
Ephb1	A	G	9: 102,195,415	I55T	probably damaging	Het
Fam126a	A	G	5: 23,964,936	C472R	probably benign	Het
Fbxw14	A	T	9: 109,278,742	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,385,161	S226P	probably damaging	Het
Gbe1	T	C	16: 70,478,322	F337L	probably damaging	Het
Glg1	A	T	8: 111,172,484	C716*	probably null	Het
Gm35339	A	T	15: 76,361,494	E1310D		Het
Gp1ba	C	G	11: 70,640,904		probably benign	Het
Grm7	C	T	6: 111,495,822	S36L	probably damaging	Het
H2-M5	T	A	17: 36,988,628	I167F	probably damaging	Het
Hist1h3e	T	C	13: 23,562,247	H40R	possibly damaging	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Ino80	C	T	2: 119,383,381	R1236H	probably damaging	Het
Ism1	T	A	2: 139,732,075	I115N	possibly damaging	Het
Kdm4a	A	G	4: 118,142,376	S950P	probably benign	Het
Lama5	T	C	2: 180,193,799	T1254A	probably benign	Het
Lipo2	T	A	19: 33,720,961	K339*	probably null	Het
Lrrc7	T	C	3: 158,240,501	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,585,356	S215R	probably benign	Het
Myzap	G	T	9: 71,550,203	D303E	possibly damaging	Het
Naa11	T	C	5: 97,392,225	N25D	probably damaging	Het
Naip5	T	A	13: 100,217,609	K1149*	probably null	Het
Obscn	C	T	11: 59,073,332	V3083M	probably damaging	Het
Olfr1298	T	C	2: 111,645,725	T91A	possibly damaging	Het
Olfr959	T	C	9: 39,572,795	T155A	probably benign	Het
Parn	T	A	16: 13,648,458	E241D	possibly damaging	Het
Pax1	T	A	2: 147,368,597		probably null	Het
Pclo	A	T	5: 14,675,355	E1409V	unknown	Het
Pclo	A	G	5: 14,713,042	Y3843C	unknown	Het
Ppp2r3a	A	T	9: 101,211,435	M563K	probably benign	Het
Prdm1	T	G	10: 44,440,733	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,551,107	V1152A	probably benign	Het
Ptx3	G	A	3: 66,220,970	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,154,912	S282G	possibly damaging	Het
Ros1	G	T	10: 52,096,094	N1641K	probably damaging	Het
Syne1	T	C	10: 5,231,768	K4189R	probably benign	Het
Tcf3	T	C	10: 80,410,257	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376	Q151R	probably benign	Het
Trappc8	T	C	18: 20,870,610	I254V	probably benign	Het
Trim46	T	C	3: 89,236,453	D556G	probably damaging	Het
Zfp513	C	A	5: 31,199,481	R487L	probably damaging	Het
Zmpste24	C	A	4: 121,087,311	E97*	probably null	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
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
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'- CTTCATCCGACCTGATGCAC -3'
(R):5'- CACAGGCCATAGCTGTCTTG -3'

Sequencing Primer
(F):5'- TGATGCACCCAGACTCCTG -3'
(R):5'- AGGCCATAGCTGTCTTGTCCTG -3'

Posted On

2021-08-31