Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Ccdc187'

541567

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26161659-26184569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26179731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 243 (V243I)

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: V243I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: V243I

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: V243I

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: V243I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,784,604 (GRCm39)	A144V	probably damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpa6	C	T	1: 10,665,913 (GRCm39)	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Or5w8	T	C	2: 87,688,295 (GRCm39)	Y259H	probably damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,542,543 (GRCm39)	Y8*	probably null	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly damaging	Het

Other mutations in Ccdc187

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Ccdc187	APN	2	26,170,960 (GRCm39)	missense	probably benign
IGL02989:Ccdc187	APN	2	26,166,443 (GRCm39)	missense	possibly damaging	0.92
IGL03017:Ccdc187	APN	2	26,170,978 (GRCm39)	missense	probably benign
IGL03059:Ccdc187	APN	2	26,184,253 (GRCm39)	missense	probably null	1.00
IGL03117:Ccdc187	APN	2	26,177,980 (GRCm39)	missense	possibly damaging	0.95
R0026:Ccdc187	UTSW	2	26,171,365 (GRCm39)	missense	probably benign	0.00
R0144:Ccdc187	UTSW	2	26,166,215 (GRCm39)	missense	probably damaging	0.98
R1078:Ccdc187	UTSW	2	26,184,389 (GRCm39)	missense	probably damaging	0.98
R1226:Ccdc187	UTSW	2	26,166,133 (GRCm39)	missense	probably damaging	0.99
R1624:Ccdc187	UTSW	2	26,171,087 (GRCm39)	missense	probably benign
R1733:Ccdc187	UTSW	2	26,183,670 (GRCm39)	missense	possibly damaging	0.93
R1851:Ccdc187	UTSW	2	26,166,080 (GRCm39)	missense	probably benign	0.17
R2304:Ccdc187	UTSW	2	26,171,029 (GRCm39)	missense	possibly damaging	0.94
R4278:Ccdc187	UTSW	2	26,172,239 (GRCm39)	intron	probably benign
R4344:Ccdc187	UTSW	2	26,170,681 (GRCm39)	missense	probably damaging	1.00
R5151:Ccdc187	UTSW	2	26,183,451 (GRCm39)	missense	probably damaging	1.00
R5416:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5537:Ccdc187	UTSW	2	26,166,237 (GRCm39)	missense	probably benign	0.32
R5761:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5762:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5865:Ccdc187	UTSW	2	26,183,380 (GRCm39)	missense	probably benign	0.00
R5925:Ccdc187	UTSW	2	26,183,593 (GRCm39)	missense	probably benign
R6261:Ccdc187	UTSW	2	26,166,215 (GRCm39)	missense	probably damaging	0.98
R6803:Ccdc187	UTSW	2	26,179,791 (GRCm39)	missense	probably benign	0.02
R6888:Ccdc187	UTSW	2	26,179,746 (GRCm39)	missense	probably damaging	0.98
R7006:Ccdc187	UTSW	2	26,171,102 (GRCm39)	missense	probably benign	0.05
R7358:Ccdc187	UTSW	2	26,146,007 (GRCm39)	missense	probably damaging	0.97
R7818:Ccdc187	UTSW	2	26,166,186 (GRCm39)	missense	possibly damaging	0.61
R8048:Ccdc187	UTSW	2	26,183,526 (GRCm39)	missense	possibly damaging	0.53
R8327:Ccdc187	UTSW	2	26,170,630 (GRCm39)	missense	probably benign	0.01
R8353:Ccdc187	UTSW	2	26,166,458 (GRCm39)	missense	probably damaging	0.99
R8425:Ccdc187	UTSW	2	26,171,548 (GRCm39)	missense	probably damaging	0.99
R8453:Ccdc187	UTSW	2	26,166,458 (GRCm39)	missense	probably damaging	0.99
R8461:Ccdc187	UTSW	2	26,183,814 (GRCm39)	missense	probably damaging	0.99
R8534:Ccdc187	UTSW	2	26,165,577 (GRCm39)	missense	possibly damaging	0.61
R8694:Ccdc187	UTSW	2	26,165,505 (GRCm39)	missense	probably benign	0.02
R8745:Ccdc187	UTSW	2	26,170,526 (GRCm39)	missense	probably damaging	0.99
R8958:Ccdc187	UTSW	2	26,165,577 (GRCm39)	missense	probably benign	0.02
R8972:Ccdc187	UTSW	2	26,171,079 (GRCm39)	missense	probably benign
R9214:Ccdc187	UTSW	2	26,183,409 (GRCm39)	missense	probably benign	0.19
R9454:Ccdc187	UTSW	2	26,166,114 (GRCm39)	missense	possibly damaging	0.94
R9542:Ccdc187	UTSW	2	26,145,930 (GRCm39)	missense	possibly damaging	0.66
R9562:Ccdc187	UTSW	2	26,183,698 (GRCm39)	missense	possibly damaging	0.90
R9565:Ccdc187	UTSW	2	26,183,698 (GRCm39)	missense	possibly damaging	0.90
R9601:Ccdc187	UTSW	2	26,143,445 (GRCm39)	missense	possibly damaging	0.90
R9702:Ccdc187	UTSW	2	26,172,222 (GRCm39)	missense	unknown
R9727:Ccdc187	UTSW	2	26,171,204 (GRCm39)	missense	probably damaging	0.99
R9790:Ccdc187	UTSW	2	26,171,227 (GRCm39)	missense	probably benign
R9791:Ccdc187	UTSW	2	26,171,227 (GRCm39)	missense	probably benign
Z1176:Ccdc187	UTSW	2	26,171,519 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TACAGACGACGTCTCTGCTAG -3'
(R):5'- TCAGATGGCCTTGAGGGATG -3'

Sequencing Primer
(F):5'- TAGGAGACAGCCCTGCTTTAC -3'
(R):5'- GCTTGAGGTATTGAGTGGAAGAATAG -3'

Posted On

2018-11-28