Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Ccdc138'

553958

Institutional Source

Beutler Lab

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58497948-58576244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58538280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 374 (L374P)

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

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

AlphaFold

Q0VF22

Predicted Effect

probably damaging
Transcript: ENSMUST00000036576
AA Change: L374P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: L374P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	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
R2097:Ccdc138	UTSW	10	58561937	nonsense	probably null
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
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'- TCTCTAAGCATGCATTTAATGTCTT -3'
(R):5'- GACAAGCTTTTCCTTACTAAATCATCA -3'

Sequencing Primer
(F):5'- GTCACCAAACTTAAGGCTT -3'
(R):5'- TGCTTTTACAAAGGACCCAGG -3'

Posted On

2019-05-15