Mutagenetix > Incidental Mutations

Incidental Mutation 'R3822:Ccdc13'

275232

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

040884-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R3822 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121831019 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 76 (L76F)

Ref Sequence

ENSEMBL: ENSMUSP00000114787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135986]

Predicted Effect

probably damaging
Transcript: ENSMUST00000135986
AA Change: L76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: L76F

Domain	Start	End	E-Value	Type
coiled coil region	19	46	N/A	INTRINSIC
coiled coil region	70	103	N/A	INTRINSIC
coiled coil region	139	178	N/A	INTRINSIC
coiled coil region	206	248	N/A	INTRINSIC
low complexity region	293	304	N/A	INTRINSIC
coiled coil region	323	370	N/A	INTRINSIC
coiled coil region	428	458	N/A	INTRINSIC
coiled coil region	550	604	N/A	INTRINSIC
coiled coil region	648	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152043

Meta Mutation Damage Score

0.0228

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,411,145	I332F	probably damaging	Het
Acpp	G	T	9: 104,324,717	Q76K	probably damaging	Het
Anp32e	A	T	3: 95,934,869	I100L	probably benign	Het
Cd44	T	C	2: 102,901,393		probably null	Het
Chka	A	G	19: 3,882,038		probably benign	Het
Cnot6	A	T	11: 49,689,172	S98T	probably benign	Het
Cth	A	G	3: 157,918,499	F127S	probably benign	Het
Dnah9	C	A	11: 65,851,003		probably null	Het
Dysf	T	C	6: 84,207,088		probably benign	Het
Fam196b	T	C	11: 34,403,007	S350P	probably benign	Het
Flad1	T	A	3: 89,411,187	I20F	probably damaging	Het
Gm20730	C	T	6: 43,081,722	S52N	probably benign	Het
Gpr89	A	G	3: 96,892,944	S113P	probably benign	Het
Herpud2	G	A	9: 25,124,924	Q147*	probably null	Het
Hivep1	A	T	13: 42,184,311	H2622L	possibly damaging	Het
Hlcs	T	C	16: 94,267,981	N274D	probably benign	Het
Ido2	T	C	8: 24,533,755	I356V	probably benign	Het
Itgam	A	G	7: 128,112,286		probably null	Het
Lama1	C	A	17: 67,779,046		probably null	Het
Lrrc4b	T	A	7: 44,462,558	V618E	probably damaging	Het
Man1a2	A	G	3: 100,632,597	I176T	possibly damaging	Het
Mns1	A	G	9: 72,439,448	E71G	probably damaging	Het
Ncoa6	T	A	2: 155,406,938	N1482I	probably damaging	Het
Neto2	C	A	8: 85,663,295	E180*	probably null	Het
Psmb7	A	T	2: 38,613,428		probably benign	Het
Rin2	C	T	2: 145,822,630	T60M	probably benign	Het
Slc28a3	A	G	13: 58,558,278	V639A	probably benign	Het
Tenm2	A	T	11: 36,024,320	I2129N	probably damaging	Het
Topaz1	A	G	9: 122,797,783	D1492G	possibly damaging	Het
Trank1	G	A	9: 111,378,819	G1711R	probably damaging	Het
Trpm1	A	G	7: 64,217,703		probably benign	Het
Ugt1a6a	T	A	1: 88,138,529	V19E	probably benign	Het
Vmn2r60	A	T	7: 42,135,701	E112D	probably damaging	Het
Wdr4	T	G	17: 31,512,221	Q55P	probably damaging	Het
Xpnpep1	G	A	19: 53,003,819		probably benign	Het
Zfyve16	A	T	13: 92,521,261	L714Q	probably damaging	Het

Other mutations in Ccdc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ccdc13	APN	9	121810084	splice site	probably benign
IGL01306:Ccdc13	APN	9	121827363	missense	probably benign	0.37
ANU23:Ccdc13	UTSW	9	121827363	missense	probably benign	0.37
R0112:Ccdc13	UTSW	9	121813481	missense	probably damaging	0.98
R0144:Ccdc13	UTSW	9	121827351	missense	probably damaging	0.98
R0360:Ccdc13	UTSW	9	121798216	missense	probably damaging	1.00
R0364:Ccdc13	UTSW	9	121798216	missense	probably damaging	1.00
R1441:Ccdc13	UTSW	9	121813449	missense	probably benign	0.44
R1674:Ccdc13	UTSW	9	121809142	missense	probably damaging	1.00
R1691:Ccdc13	UTSW	9	121825068	splice site	probably null
R1710:Ccdc13	UTSW	9	121819581	missense	probably damaging	1.00
R3821:Ccdc13	UTSW	9	121831019	missense	probably damaging	1.00
R3962:Ccdc13	UTSW	9	121798939	intron	probably benign
R4695:Ccdc13	UTSW	9	121820760	missense	probably damaging	1.00
R4758:Ccdc13	UTSW	9	121833734	missense	possibly damaging	0.91
R5058:Ccdc13	UTSW	9	121817547	intron	probably benign
R5283:Ccdc13	UTSW	9	121808188	missense	probably damaging	1.00
R5436:Ccdc13	UTSW	9	121799043	missense	probably benign	0.06
R5601:Ccdc13	UTSW	9	121800572	nonsense	probably null
R5623:Ccdc13	UTSW	9	121833733	missense	probably damaging	0.99
R5653:Ccdc13	UTSW	9	121798787	makesense	probably null
R5665:Ccdc13	UTSW	9	121814290	missense	probably damaging	0.99
R5975:Ccdc13	UTSW	9	121827235	missense	probably benign	0.00
R6212:Ccdc13	UTSW	9	121798909	intron	probably benign
R6213:Ccdc13	UTSW	9	121798909	intron	probably benign
R6214:Ccdc13	UTSW	9	121798909	intron	probably benign
R6215:Ccdc13	UTSW	9	121798909	intron	probably benign
R6222:Ccdc13	UTSW	9	121798909	intron	probably benign
R6223:Ccdc13	UTSW	9	121798909	intron	probably benign
R6257:Ccdc13	UTSW	9	121798909	intron	probably benign
R7053:Ccdc13	UTSW	9	121833838	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TACTGTGAGCACACCTGACC -3'
(R):5'- ACCCAGCTCTGAGAACAGTATG -3'

Sequencing Primer
(F):5'- ACCTGACCCGGCACTGTTC -3'
(R):5'- AGCTCTGAGAACAGTATGTTTAAATC -3'

Posted On

2015-04-02