Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Ccdc183'

638289

Institutional Source

Beutler Lab

Gene Symbol

Ccdc183

Ensembl Gene

ENSMUSG00000026940

Gene Name

coiled-coil domain containing 183

Synonyms

4921530D09Rik, Cccd183

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25498647-25507690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25502160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 238 (A238V)

Ref Sequence

ENSEMBL: ENSMUSP00000028309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]

AlphaFold

A2AJB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028309
AA Change: A238V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940
AA Change: A238V

Domain	Start	End	E-Value	Type
coiled coil region	118	147	N/A	INTRINSIC
low complexity region	171	183	N/A	INTRINSIC
coiled coil region	321	406	N/A	INTRINSIC
low complexity region	524	534	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058137

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	possibly damaging	Het

Other mutations in Ccdc183

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Ccdc183	APN	2	25,499,783 (GRCm39)	missense	probably benign	0.01
IGL02177:Ccdc183	APN	2	25,502,095 (GRCm39)	missense	probably benign	0.03
R1354:Ccdc183	UTSW	2	25,502,151 (GRCm39)	missense	probably benign	0.33
R1547:Ccdc183	UTSW	2	25,499,362 (GRCm39)	missense	probably benign	0.05
R5084:Ccdc183	UTSW	2	25,498,802 (GRCm39)	missense	probably damaging	0.97
R5579:Ccdc183	UTSW	2	25,505,434 (GRCm39)	missense	possibly damaging	0.92
R6188:Ccdc183	UTSW	2	25,499,764 (GRCm39)	missense	probably benign	0.28
R6224:Ccdc183	UTSW	2	25,500,594 (GRCm39)	missense	possibly damaging	0.55
R6372:Ccdc183	UTSW	2	25,506,176 (GRCm39)	missense	probably benign	0.21
R6994:Ccdc183	UTSW	2	25,507,057 (GRCm39)	missense	probably benign	0.00
R7041:Ccdc183	UTSW	2	25,503,682 (GRCm39)	missense	probably benign	0.00
R7132:Ccdc183	UTSW	2	25,506,542 (GRCm39)	critical splice donor site	probably null
R7177:Ccdc183	UTSW	2	25,506,296 (GRCm39)	missense	probably damaging	1.00
R7432:Ccdc183	UTSW	2	25,499,469 (GRCm39)	missense	probably benign
R7561:Ccdc183	UTSW	2	25,501,529 (GRCm39)	missense	probably benign	0.00
R8781:Ccdc183	UTSW	2	25,502,208 (GRCm39)	critical splice acceptor site	probably benign
R9623:Ccdc183	UTSW	2	25,499,520 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGAGACTCACCCTTTAC -3'
(R):5'- AGAATGGCCAGCTTTCTTCC -3'

Sequencing Primer
(F):5'- TCCATAGTCATCAGATTGGAGGG -3'
(R):5'- TCTTCCACAGTCCACTGATATGAAG -3'

Posted On

2020-07-28