Mutagenetix > Incidental Mutation

Incidental Mutation 'R2097:Ccdc138'

230321

Institutional Source

Beutler Lab

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

MMRRC Submission

040101-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R2097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58497948-58576244 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 58561937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 533 (L533*)

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036576]

AlphaFold

Q0VF22

Predicted Effect

probably null
Transcript: ENSMUST00000036576
AA Change: L533*

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: L533*

Domain	Start	End	E-Value	Type
coiled coil region	259	339	N/A	INTRINSIC
low complexity region	355	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,181,964	R29*	probably null	Het
Actr8	T	C	14: 29,987,228	V263A	probably damaging	Het
Apol6	T	A	15: 77,047,133		probably null	Het
Aqp3	C	T	4: 41,098,004	V36M	possibly damaging	Het
Bace1	G	T	9: 45,860,222	C478F	probably benign	Het
Bbof1	C	A	12: 84,413,307	A116D	probably damaging	Het
Casq1	A	T	1: 172,210,421	L381Q	probably damaging	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cntn6	A	G	6: 104,861,949	E988G	probably damaging	Het
Cts6	T	A	13: 61,195,445	N321Y	probably damaging	Het
Dnmt1	A	G	9: 20,909,788	S1269P	probably benign	Het
Dsg4	C	A	18: 20,471,044	P856H	probably damaging	Het
Fndc3a	C	A	14: 72,574,351		probably null	Het
Galc	T	C	12: 98,252,032	D187G	probably benign	Het
Gfm1	T	C	3: 67,449,746	I384T	probably damaging	Het
Hacd2	A	G	16: 35,048,720	I92V	probably benign	Het
Hmcn2	T	A	2: 31,380,419	Y1223N	probably damaging	Het
Il20ra	T	C	10: 19,759,463	I484T	probably damaging	Het
Map7	G	T	10: 20,246,616	V143F	probably damaging	Het
Mcm3ap	T	C	10: 76,512,489	L1893P	probably damaging	Het
Msh6	A	G	17: 87,985,416	N533S	probably benign	Het
Nbea	T	C	3: 55,723,217	D2233G	probably damaging	Het
Nlrp6	A	T	7: 140,923,204	T408S	probably damaging	Het
Notch3	A	T	17: 32,122,754	L2008Q	probably damaging	Het
Olfr1051	A	T	2: 86,276,039	Y149*	probably null	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pggt1b	T	C	18: 46,246,628	N296D	probably benign	Het
Pglyrp3	T	A	3: 92,028,171	F243I	possibly damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	T	A	13: 48,592,659		probably null	Het
Ptprq	T	C	10: 107,653,493	T924A	probably benign	Het
Pwp2	C	A	10: 78,177,742		probably benign	Het
Slc7a4	G	T	16: 17,573,455		probably null	Het
Tmem132b	T	A	5: 125,638,208	I327K	probably damaging	Het
Trim9	T	C	12: 70,347,159	M4V	probably damaging	Het
Tspan13	T	C	12: 36,021,830	S128G	probably benign	Het
Ttc25	T	A	11: 100,563,582	F398I	possibly damaging	Het
Zbtb20	A	G	16: 43,609,519	D131G	probably null	Het
Zeb2	A	T	2: 44,997,156	C615S	probably damaging	Het
Zfp777	C	T	6: 48,044,242	D149N	probably benign	Het
Zfp990	A	G	4: 145,537,322	K297E	possibly damaging	Het

Other mutations in Ccdc138

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc138	APN	10	58575715	missense	probably damaging	1.00
IGL00957:Ccdc138	APN	10	58529016	splice site	probably benign
IGL01012:Ccdc138	APN	10	58540915	critical splice donor site	probably null
IGL01725:Ccdc138	APN	10	58528923	missense	possibly damaging	0.50
IGL01996:Ccdc138	APN	10	58562030	missense	probably damaging	1.00
IGL02083:Ccdc138	APN	10	58544914	splice site	probably benign
IGL02652:Ccdc138	APN	10	58513079	missense	probably benign	0.00
IGL02820:Ccdc138	APN	10	58528899	splice site	probably benign
IGL02934:Ccdc138	APN	10	58573580	splice site	probably benign
IGL03231:Ccdc138	APN	10	58573706	missense	probably damaging	1.00
R0128:Ccdc138	UTSW	10	58528360	missense	probably damaging	1.00
R0271:Ccdc138	UTSW	10	58575823	missense	probably damaging	0.99
R0480:Ccdc138	UTSW	10	58561967	missense	probably damaging	1.00
R0560:Ccdc138	UTSW	10	58575717	missense	probably damaging	1.00
R0645:Ccdc138	UTSW	10	58575720	missense	probably damaging	1.00
R1405:Ccdc138	UTSW	10	58545117	splice site	probably benign
R2032:Ccdc138	UTSW	10	58513162	missense	possibly damaging	0.71
R2350:Ccdc138	UTSW	10	58561893	splice site	probably benign
R2571:Ccdc138	UTSW	10	58513222	missense	probably benign	0.25
R3787:Ccdc138	UTSW	10	58538270	missense	probably damaging	1.00
R3805:Ccdc138	UTSW	10	58561997	missense	possibly damaging	0.95
R4582:Ccdc138	UTSW	10	58507643	critical splice donor site	probably null
R4630:Ccdc138	UTSW	10	58573655	missense	probably damaging	1.00
R4801:Ccdc138	UTSW	10	58573643	missense	probably damaging	1.00
R4802:Ccdc138	UTSW	10	58573643	missense	probably damaging	1.00
R4883:Ccdc138	UTSW	10	58561996	missense	probably benign	0.03
R4908:Ccdc138	UTSW	10	58544995	missense	possibly damaging	0.84
R5032:Ccdc138	UTSW	10	58573636	missense	probably damaging	1.00
R5155:Ccdc138	UTSW	10	58507572	missense	probably benign	0.00
R5287:Ccdc138	UTSW	10	58575705	missense	possibly damaging	0.89
R5683:Ccdc138	UTSW	10	58540819	missense	probably damaging	1.00
R5963:Ccdc138	UTSW	10	58575757	missense	possibly damaging	0.90
R6530:Ccdc138	UTSW	10	58544968	missense	probably damaging	1.00
R7148:Ccdc138	UTSW	10	58538280	missense	probably damaging	1.00
R7217:Ccdc138	UTSW	10	58509600	missense	probably benign	0.33
R9031:Ccdc138	UTSW	10	58545071	missense	probably damaging	1.00
R9080:Ccdc138	UTSW	10	58562062	missense	probably damaging	0.99
R9104:Ccdc138	UTSW	10	58513160	missense	probably benign	0.05
R9134:Ccdc138	UTSW	10	58538280	missense	probably damaging	0.99
R9300:Ccdc138	UTSW	10	58507626	missense	probably benign	0.00
R9409:Ccdc138	UTSW	10	58538313	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATAGAGTTCAGTGAGGGG -3'
(R):5'- CGTTCTGATCAGAGGGAAACGC -3'

Sequencing Primer
(F):5'- GGGTGAATCTAAACTTAGGACCTC -3'
(R):5'- GGGAAACGCAAGCATCATTTC -3'

Posted On

2014-09-18