Mutagenetix > Incidental Mutation

Incidental Mutation 'R6629:Ccdc192'

525020

Institutional Source

Beutler Lab

Gene Symbol

Ccdc192

Ensembl Gene

ENSMUSG00000058925

Gene Name

coiled-coil domain containing 192

Synonyms

1700011I03Rik

MMRRC Submission

044751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6629 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57666852-57864137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57863852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 219 (S219P)

Ref Sequence

ENSEMBL: ENSMUSP00000078674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079738] [ENSMUST00000135806]

AlphaFold

E9PYL8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079738
AA Change: S219P

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

SMART Domains

Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925
AA Change: S219P

Domain	Start	End	E-Value	Type
coiled coil region	68	177	N/A	INTRINSIC
coiled coil region	220	260	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123872
AA Change: S201P

SMART Domains

Protein: ENSMUSP00000114519
Gene: ENSMUSG00000058925
AA Change: S201P

Domain	Start	End	E-Value	Type
low complexity region	14	19	N/A	INTRINSIC
coiled coil region	50	159	N/A	INTRINSIC
coiled coil region	202	242	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000135806

SMART Domains

Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925

Domain	Start	End	E-Value	Type
coiled coil region	68	151	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn3	A	T	12: 101,903,665 (GRCm39)	M180K	probably benign	Het
Bnip2	G	T	9: 69,909,393 (GRCm39)	R236L	probably null	Het
Boc	T	C	16: 44,312,724 (GRCm39)	D582G	probably benign	Het
Cacul1	T	C	19: 60,568,805 (GRCm39)	S118G	probably benign	Het
Cpa2	A	T	6: 30,554,193 (GRCm39)	D271V	probably damaging	Het
Cubn	G	A	2: 13,435,683 (GRCm39)	T1091M	probably damaging	Het
Dlgap2	A	G	8: 14,881,465 (GRCm39)	T846A	probably benign	Het
Eif5	G	T	12: 111,510,042 (GRCm39)	A329S	probably damaging	Het
Fam136b-ps	G	A	15: 31,276,962 (GRCm39)		probably benign	Het
Gnrhr	A	G	5: 86,330,168 (GRCm39)	V284A	probably benign	Het
Grin3a	A	G	4: 49,844,991 (GRCm39)	S31P	probably damaging	Het
Hectd2	T	C	19: 36,592,938 (GRCm39)	L701P	probably damaging	Het
Hook1	C	T	4: 95,889,507 (GRCm39)	T241I	probably benign	Het
Kif5a	A	G	10: 127,084,123 (GRCm39)	V52A	probably damaging	Het
Lasp1	T	A	11: 97,697,722 (GRCm39)	Y11*	probably null	Het
Meltf	A	G	16: 31,703,894 (GRCm39)	Y207C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,504 (GRCm39)		probably benign	Het
Nek1	A	G	8: 61,507,367 (GRCm39)		probably null	Het
Notch2	C	A	3: 98,028,197 (GRCm39)	N969K	possibly damaging	Het
Or4c116	T	A	2: 88,942,506 (GRCm39)	M117L	probably benign	Het
Pcnx2	C	T	8: 126,617,851 (GRCm39)	G135R	probably benign	Het
Pla2g4f	A	T	2: 120,138,723 (GRCm39)	L242Q	probably damaging	Het
Plcxd2	T	G	16: 45,785,470 (GRCm39)	T312P	probably damaging	Het
Prpf4	G	A	4: 62,336,097 (GRCm39)	V275I	possibly damaging	Het
Prpf8	G	A	11: 75,386,252 (GRCm39)		probably null	Het
Pxn	T	C	5: 115,692,121 (GRCm39)	L401P	probably damaging	Het
Rab44	A	T	17: 29,354,754 (GRCm39)		probably benign	Het
Rfx6	C	A	10: 51,601,586 (GRCm39)	T669K	probably benign	Het
Rgs16	A	G	1: 153,619,420 (GRCm39)	N142S	probably damaging	Het
Rhobtb1	A	G	10: 69,106,146 (GRCm39)	E237G	possibly damaging	Het
Rsbn1	A	C	3: 103,835,757 (GRCm39)	D265A	probably damaging	Het
Rufy4	A	G	1: 74,171,526 (GRCm39)		probably null	Het
Slc4a1	C	A	11: 102,252,048 (GRCm39)	E19*	probably null	Het
Tctn1	A	G	5: 122,380,731 (GRCm39)	S526P	probably damaging	Het
Tspear	A	T	10: 77,706,343 (GRCm39)	H371L	probably benign	Het
Vmn1r34	A	T	6: 66,614,499 (GRCm39)	F80I	probably benign	Het
Wdr75	G	A	1: 45,851,216 (GRCm39)	S264N	probably damaging	Het
Zfp652	A	T	11: 95,654,616 (GRCm39)	N340Y	probably damaging	Het
Zp3	A	G	5: 136,016,190 (GRCm39)	T306A	probably benign	Het

Other mutations in Ccdc192

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ccdc192	APN	18	57,727,158 (GRCm39)	missense	probably damaging	0.98
IGL01646:Ccdc192	APN	18	57,800,417 (GRCm39)	nonsense	probably null
R0115:Ccdc192	UTSW	18	57,727,214 (GRCm39)	splice site	probably benign
R0285:Ccdc192	UTSW	18	57,666,937 (GRCm39)	missense	probably damaging	0.99
R1087:Ccdc192	UTSW	18	57,863,870 (GRCm39)	missense	probably damaging	0.96
R1923:Ccdc192	UTSW	18	57,666,959 (GRCm39)	missense	probably damaging	0.99
R4927:Ccdc192	UTSW	18	57,863,888 (GRCm39)	nonsense	probably null
R5133:Ccdc192	UTSW	18	57,697,041 (GRCm39)	missense	possibly damaging	0.92
R5508:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5509:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5510:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5511:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R7089:Ccdc192	UTSW	18	57,725,059 (GRCm39)	missense	probably benign	0.11
R7545:Ccdc192	UTSW	18	57,863,895 (GRCm39)	missense	probably damaging	0.98
R7700:Ccdc192	UTSW	18	57,696,388 (GRCm39)	splice site	probably null
R8045:Ccdc192	UTSW	18	57,863,991 (GRCm39)	missense	probably damaging	0.99
R8098:Ccdc192	UTSW	18	57,800,403 (GRCm39)	missense	probably benign	0.02
R8973:Ccdc192	UTSW	18	57,725,139 (GRCm39)	missense	possibly damaging	0.55
R9011:Ccdc192	UTSW	18	57,800,376 (GRCm39)	missense	possibly damaging	0.61
X0021:Ccdc192	UTSW	18	57,727,197 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGATGCAACATCTGGGCC -3'
(R):5'- TAGCCTCATCATTTACAGTGGG -3'

Sequencing Primer
(F):5'- AACATCTGGGCCGTCTCTTGG -3'
(R):5'- CCTCATCATTTACAGTGGGGAGGG -3'

Posted On

2018-06-22