Mutagenetix > Incidental Mutation

Incidental Mutation 'R1087:Ccdc192'

85094

Institutional Source

Beutler Lab

Gene Symbol

Ccdc192

Ensembl Gene

ENSMUSG00000058925

Gene Name

coiled-coil domain containing 192

Synonyms

1700011I03Rik

Accession Numbers

Essential gene?

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

Stock #

R1087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57666852-57864137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57863870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 225 (S225P)

Ref Sequence

ENSEMBL: ENSMUSP00000078674 (fasta)

Gene Model

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

AlphaFold

E9PYL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079738
AA Change: S225P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925
AA Change: S225P

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: S207P

SMART Domains

Protein: ENSMUSP00000114519
Gene: ENSMUSG00000058925
AA Change: S207P

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

probably benign
Transcript: ENSMUST00000135806

SMART Domains

Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	A	G	14: 25,870,603 (GRCm39)	M56V	unknown	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atp8b3	T	C	10: 80,356,017 (GRCm39)	R1232G	probably benign	Het
Axdnd1	T	A	1: 156,193,259 (GRCm39)	M643L	probably benign	Het
Bsph1	A	G	7: 13,206,106 (GRCm39)	Y57C	probably damaging	Het
Car13	G	A	3: 14,706,885 (GRCm39)	W6*	probably null	Het
Ccng2	T	C	5: 93,421,303 (GRCm39)	I271T	probably benign	Het
Ces1f	T	A	8: 93,984,923 (GRCm39)	D468V	probably damaging	Het
Chil4	A	G	3: 106,117,881 (GRCm39)	Y130H	probably benign	Het
Clns1a	T	A	7: 97,354,862 (GRCm39)	H69Q	possibly damaging	Het
Cnot11	T	A	1: 39,579,139 (GRCm39)	S335T	probably benign	Het
Dcaf11	A	G	14: 55,806,581 (GRCm39)	S461G	probably damaging	Het
Dlst	G	A	12: 85,179,413 (GRCm39)	M417I	probably damaging	Het
Dock4	A	C	12: 40,779,937 (GRCm39)	I612L	probably benign	Het
Endod1	A	G	9: 14,268,489 (GRCm39)	V332A	possibly damaging	Het
F830045P16Rik	T	C	2: 129,314,639 (GRCm39)	T213A	possibly damaging	Het
Gm5773	A	T	3: 93,681,065 (GRCm39)	I246F	probably damaging	Het
Gml2	T	A	15: 74,695,946 (GRCm39)	D113E	possibly damaging	Het
Grik1	T	C	16: 87,803,265 (GRCm39)	E309G	probably benign	Het
Hectd1	A	T	12: 51,823,355 (GRCm39)	I1013K	probably damaging	Het
Kcmf1	T	C	6: 72,835,863 (GRCm39)	E22G	probably damaging	Het
Kdm5b	T	A	1: 134,528,375 (GRCm39)	C361S	probably damaging	Het
Kif21b	T	C	1: 136,090,561 (GRCm39)	S1150P	probably damaging	Het
Man2b1	G	A	8: 85,821,800 (GRCm39)	V701M	probably damaging	Het
Marchf10	T	C	11: 105,281,488 (GRCm39)	R266G	probably damaging	Het
Milr1	A	G	11: 106,645,848 (GRCm39)	Y130C	probably damaging	Het
Nampt	A	G	12: 32,883,042 (GRCm39)	T76A	possibly damaging	Het
Nek10	A	G	14: 14,827,059 (GRCm38)	N86D	possibly damaging	Het
Nms	T	G	1: 38,983,192 (GRCm39)		probably null	Het
Or10w1	T	A	19: 13,632,376 (GRCm39)	C194*	probably null	Het
Parp14	A	G	16: 35,678,658 (GRCm39)	S437P	probably damaging	Het
Pif1	A	G	9: 65,496,377 (GRCm39)	M226V	probably benign	Het
Rnf169	T	C	7: 99,592,204 (GRCm39)	R216G	probably benign	Het
Rorb	T	C	19: 18,937,778 (GRCm39)	K307R	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpinb8	T	C	1: 107,534,727 (GRCm39)	V266A	probably damaging	Het
Strip2	A	G	6: 29,927,633 (GRCm39)	E226G	probably damaging	Het
Trim23	A	G	13: 104,324,618 (GRCm39)	D212G	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,673 (GRCm39)	V186D	possibly damaging	Het
Vwde	A	T	6: 13,186,803 (GRCm39)	C895S	probably damaging	Het
Zswim8	C	A	14: 20,767,933 (GRCm39)		probably null	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
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
R6629:Ccdc192	UTSW	18	57,863,852 (GRCm39)	missense	possibly damaging	0.53
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'- AGATGATGCAACATCTGGGCCG -3'
(R):5'- CCTTGGACTCCACCTTGATGACAC -3'

Sequencing Primer
(F):5'- CTCTTGGGGAACGTGCAAAATG -3'
(R):5'- CCTCATCATTTACAGTGGGGAG -3'

Posted On

2013-11-18