Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Ccdc138'

471886

Institutional Source

Beutler Lab

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58333770-58412066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58411579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 649 (H649R)

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

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

AlphaFold

Q0VF22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036576
AA Change: H649R

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: H649R

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		probably benign	Het

Other mutations in Ccdc138

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc138	APN	10	58,411,537 (GRCm39)	missense	probably damaging	1.00
IGL00957:Ccdc138	APN	10	58,364,838 (GRCm39)	splice site	probably benign
IGL01012:Ccdc138	APN	10	58,376,737 (GRCm39)	critical splice donor site	probably null
IGL01725:Ccdc138	APN	10	58,364,745 (GRCm39)	missense	possibly damaging	0.50
IGL01996:Ccdc138	APN	10	58,397,852 (GRCm39)	missense	probably damaging	1.00
IGL02083:Ccdc138	APN	10	58,380,736 (GRCm39)	splice site	probably benign
IGL02652:Ccdc138	APN	10	58,348,901 (GRCm39)	missense	probably benign	0.00
IGL02820:Ccdc138	APN	10	58,364,721 (GRCm39)	splice site	probably benign
IGL02934:Ccdc138	APN	10	58,409,402 (GRCm39)	splice site	probably benign
IGL03231:Ccdc138	APN	10	58,409,528 (GRCm39)	missense	probably damaging	1.00
R0128:Ccdc138	UTSW	10	58,364,182 (GRCm39)	missense	probably damaging	1.00
R0271:Ccdc138	UTSW	10	58,411,645 (GRCm39)	missense	probably damaging	0.99
R0480:Ccdc138	UTSW	10	58,397,789 (GRCm39)	missense	probably damaging	1.00
R0560:Ccdc138	UTSW	10	58,411,539 (GRCm39)	missense	probably damaging	1.00
R0645:Ccdc138	UTSW	10	58,411,542 (GRCm39)	missense	probably damaging	1.00
R1405:Ccdc138	UTSW	10	58,380,939 (GRCm39)	splice site	probably benign
R2032:Ccdc138	UTSW	10	58,348,984 (GRCm39)	missense	possibly damaging	0.71
R2097:Ccdc138	UTSW	10	58,397,759 (GRCm39)	nonsense	probably null
R2350:Ccdc138	UTSW	10	58,397,715 (GRCm39)	splice site	probably benign
R2571:Ccdc138	UTSW	10	58,349,044 (GRCm39)	missense	probably benign	0.25
R3787:Ccdc138	UTSW	10	58,374,092 (GRCm39)	missense	probably damaging	1.00
R3805:Ccdc138	UTSW	10	58,397,819 (GRCm39)	missense	possibly damaging	0.95
R4582:Ccdc138	UTSW	10	58,343,465 (GRCm39)	critical splice donor site	probably null
R4630:Ccdc138	UTSW	10	58,409,477 (GRCm39)	missense	probably damaging	1.00
R4801:Ccdc138	UTSW	10	58,409,465 (GRCm39)	missense	probably damaging	1.00
R4802:Ccdc138	UTSW	10	58,409,465 (GRCm39)	missense	probably damaging	1.00
R4883:Ccdc138	UTSW	10	58,397,818 (GRCm39)	missense	probably benign	0.03
R4908:Ccdc138	UTSW	10	58,380,817 (GRCm39)	missense	possibly damaging	0.84
R5032:Ccdc138	UTSW	10	58,409,458 (GRCm39)	missense	probably damaging	1.00
R5155:Ccdc138	UTSW	10	58,343,394 (GRCm39)	missense	probably benign	0.00
R5287:Ccdc138	UTSW	10	58,411,527 (GRCm39)	missense	possibly damaging	0.89
R5683:Ccdc138	UTSW	10	58,376,641 (GRCm39)	missense	probably damaging	1.00
R6530:Ccdc138	UTSW	10	58,380,790 (GRCm39)	missense	probably damaging	1.00
R7148:Ccdc138	UTSW	10	58,374,102 (GRCm39)	missense	probably damaging	1.00
R7217:Ccdc138	UTSW	10	58,345,422 (GRCm39)	missense	probably benign	0.33
R9031:Ccdc138	UTSW	10	58,380,893 (GRCm39)	missense	probably damaging	1.00
R9080:Ccdc138	UTSW	10	58,397,884 (GRCm39)	missense	probably damaging	0.99
R9104:Ccdc138	UTSW	10	58,348,982 (GRCm39)	missense	probably benign	0.05
R9134:Ccdc138	UTSW	10	58,374,102 (GRCm39)	missense	probably damaging	0.99
R9300:Ccdc138	UTSW	10	58,343,448 (GRCm39)	missense	probably benign	0.00
R9409:Ccdc138	UTSW	10	58,374,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATCTTAATCCTGTAGTCAGCC -3'
(R):5'- ACAGCCATACCTTCTACGGG -3'

Sequencing Primer
(F):5'- GTAGTCAGCCATTTTCTCCATTG -3'
(R):5'- ACGGGTCTCATTTACGTTGC -3'

Posted On

2017-03-31