Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Ccdc138'

252559

Institutional Source

Beutler Lab

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

MMRRC Submission

040429-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58497948-58576244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58513222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 197 (Y197H)

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

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

AlphaFold

Q0VF22

Predicted Effect

probably benign
Transcript: ENSMUST00000036576
AA Change: Y197H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: Y197H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,249,885	N2438S	probably benign	Het
Ago3	G	A	4: 126,363,811	R476W	probably damaging	Het
Akap8	T	C	17: 32,315,455	E339G	probably damaging	Het
Apba2	T	C	7: 64,745,750	V658A	probably damaging	Het
BC049730	A	G	7: 24,713,394	I76V	probably benign	Het
Bcl3	T	C	7: 19,809,527	D338G	probably damaging	Het
Ccdc162	T	A	10: 41,552,397	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,422,960	C21Y	probably damaging	Het
Chil6	A	T	3: 106,390,393	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,184,362	R461C	probably damaging	Het
Col19a1	T	A	1: 24,374,631	R407S	unknown	Het
Crlf3	A	T	11: 80,047,513	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dnah10	A	T	5: 124,775,478	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,540,005	V911A	probably benign	Het
Dzip3	T	C	16: 48,972,218		probably null	Het
Evpl	T	C	11: 116,237,969	Q10R	unknown	Het
Glra3	C	T	8: 56,110,481	A337V	probably benign	Het
Gm8909	C	T	17: 36,167,661	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,709,023	F163S	probably damaging	Het
Hells	T	C	19: 38,959,733	V701A	possibly damaging	Het
Helz	A	G	11: 107,613,952	T422A	probably benign	Het
Hhat	G	A	1: 192,553,022	T442I	probably damaging	Het
Hmces	A	T	6: 87,936,220	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,386,757	T97S	probably damaging	Het
Impad1	C	T	4: 4,778,192		probably null	Het
Kcne2	C	T	16: 92,296,912	T109I	probably damaging	Het
Kcnq1	T	G	7: 143,107,696	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932	S1106P	probably benign	Het
Kel	C	A	6: 41,688,067	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,501,887	F1483I	probably benign	Het
Krt4	T	A	15: 101,921,257	N279Y	probably damaging	Het
Lama4	T	A	10: 39,042,675	M384K	possibly damaging	Het
Lepr	C	T	4: 101,768,172	T508I	possibly damaging	Het
Map1lc3b	T	A	8: 121,593,474		probably null	Het
Me1	T	C	9: 86,654,698	H108R	probably damaging	Het
Mindy4	T	C	6: 55,284,785	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,402,939	S826P	probably damaging	Het
Olfr702	T	A	7: 106,823,726	M267L	probably benign	Het
Osbpl7	T	C	11: 97,054,841	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,756,868	E310K	probably damaging	Het
Pcif1	A	G	2: 164,884,211	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,545,382	T63I	probably benign	Het
Prickle2	T	C	6: 92,705,400	Q25R	probably benign	Het
Ptk2	A	G	15: 73,231,919	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135	F333S	probably benign	Het
Rag2	T	A	2: 101,629,967	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,860,612		probably null	Het
Rps6ka4	G	T	19: 6,838,103	H174Q	probably damaging	Het
Rreb1	C	A	13: 37,899,637	T92K	probably damaging	Het
Ryr1	A	T	7: 29,009,562	M4793K	unknown	Het
Ryr1	T	A	7: 29,036,126	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,439,331	S891A	probably benign	Het
Sgsh	A	G	11: 119,350,514	Y132H	probably damaging	Het
Sos2	T	A	12: 69,635,718	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,036,384	R580L	probably damaging	Het
Spata9	C	A	13: 75,967,761		probably benign	Het
Tead2	T	A	7: 45,225,770	V202E	probably damaging	Het
Thada	T	C	17: 84,454,640	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718	I256T	probably damaging	Het
Tra2a	G	T	6: 49,252,487		probably benign	Het
Trim30a	T	A	7: 104,429,326	N181I	possibly damaging	Het
Ttc13	A	C	8: 124,683,799	Y372D	probably damaging	Het
Vit	T	C	17: 78,586,745	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,415,556	T41A	probably benign	Het
Vps13d	C	A	4: 145,149,136	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,450,926	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,356,444	L376P	probably damaging	Het
Zfp619	T	C	7: 39,537,171	L875P	probably damaging	Het
Zic5	T	A	14: 122,459,478	Q575L	unknown	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
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'- CTGAAGATTCTCTGTCTGAAAACG -3'
(R):5'- CACTTTGTATCAGCACGTTCTG -3'

Sequencing Primer
(F):5'- CGTTTTAAATTTTTGCAGATGCCTTG -3'
(R):5'- GTATCAGCACGTTCTGTTTGATATC -3'

Posted On

2014-12-04