Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Ccdc138'

221377

Institutional Source

Beutler Lab

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

MMRRC Submission

040039-MU

Accession Numbers

Essential gene?

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

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58333770-58412066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58348984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 177 (Y177N)

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

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

AlphaFold

Q0VF22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036576
AA Change: Y177N

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: Y177N

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	probably damaging	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
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
R5963:Ccdc138	UTSW	10	58,411,579 (GRCm39)	missense	possibly damaging	0.90
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'- AACATTCCATGTCTAGGACTAGG -3'
(R):5'- CCTTTTGAACTGCCTTGAGCTG -3'

Sequencing Primer
(F):5'- ACCAGAAATGTTTCACAAAGTGC -3'
(R):5'- CTGCCTTGAGCTGTTTATGTATAAC -3'

Posted On

2014-08-25