Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Ccdc187'

714442

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26161659-26184569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26166114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 772 (T772S)

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: T772S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: T772S

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: T772S

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: T811S

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	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
R6958:Ccdc187	UTSW	2	26,179,731 (GRCm39)	missense	probably benign
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
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'- ACAGGCATGACACCCATTG -3'
(R):5'- TGCACTTCCAGTACAAGCAAG -3'

Sequencing Primer
(F):5'- GGCTTTCAATGTGGGTCCCC -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'

Posted On

2022-06-15