Mutagenetix > Incidental Mutation

Incidental Mutation 'RF006:Ccdc13'

602834

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

2900041A11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

RF006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121626693-121668527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121643273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 376 (K376R)

Ref Sequence

ENSEMBL: ENSMUSP00000114787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135986] [ENSMUST00000142783] [ENSMUST00000155511]

AlphaFold

D3YV10

Predicted Effect

probably damaging
Transcript: ENSMUST00000135986
AA Change: K376R

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

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: K376R

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

probably benign
Transcript: ENSMUST00000142783

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235

Domain	Start	End	E-Value	Type
coiled coil region	68	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Meta Mutation Damage Score

0.1123

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	GTT	GT	2: 3,341,736 (GRCm39)		probably null	Het
Acp7	A	T	7: 28,314,204 (GRCm39)	N330K	possibly damaging	Het
Adam25	A	T	8: 41,208,834 (GRCm39)	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,686,717 (GRCm39)		probably benign	Het
Atp8b3	A	T	10: 80,362,070 (GRCm39)	V689E	probably benign	Het
Atxn2l	A	G	7: 126,095,063 (GRCm39)	V533A	probably benign	Het
Catsperb	G	A	12: 101,542,238 (GRCm39)		probably null	Het
Ccdc121	C	T	5: 31,644,894 (GRCm39)	Q216*	probably null	Het
Ccdc170	C	CCAA	10: 4,511,030 (GRCm39)		probably benign	Het
Cdh9	G	C	15: 16,855,916 (GRCm39)	R652P	probably damaging	Het
Cenpf	A	C	1: 189,389,583 (GRCm39)	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,527,671 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Dennd3	T	C	15: 73,419,441 (GRCm39)	I744T	probably damaging	Het
Dnah1	C	T	14: 31,029,832 (GRCm39)	R491Q	probably benign	Het
Eif4a2	A	T	16: 22,929,028 (GRCm39)	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,006,294 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,909,913 (GRCm39)	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Gins4	A	T	8: 23,717,183 (GRCm39)	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,272,892 (GRCm39)		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 163,786,814 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,128 (GRCm39)		probably benign	Het
Gnpnat1	T	A	14: 45,620,900 (GRCm39)		probably null	Het
Inpp4a	A	C	1: 37,427,908 (GRCm39)	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,788,768 (GRCm39)	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,137,809 (GRCm39)		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,520,770 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,439,566 (GRCm39)	S405P	probably damaging	Het
Net1	T	C	13: 3,937,406 (GRCm39)	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,580,332 (GRCm39)	T203A	probably damaging	Het
Oas3	T	C	5: 120,912,165 (GRCm39)	E75G	probably damaging	Het
Pappa	T	A	4: 65,242,110 (GRCm39)	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,366,634 (GRCm39)	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,421,903 (GRCm39)		probably benign	Het
Plscr1l1	A	T	9: 92,234,702 (GRCm39)	I146F	possibly damaging	Het
Ppp1r8	TCTCTCAC	TC	4: 132,557,928 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,600 (GRCm39)	I157F	probably benign	Het
Pramel34	A	T	5: 93,784,562 (GRCm39)	C301S	probably benign	Het
Rspo4	C	T	2: 151,709,797 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,656,919 (GRCm39)	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,058,288 (GRCm39)	Y58*	probably null	Het
Slc4a1	C	T	11: 102,247,542 (GRCm39)		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,063,303 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,442,276 (GRCm39)	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853 (GRCm39)		probably benign	Het
Srrm2	A	G	17: 24,031,562 (GRCm39)	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,984,700 (GRCm39)		probably null	Het
Tfeb	CAG	CAGGAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tktl2	A	T	8: 66,965,504 (GRCm39)	E354V	probably benign	Het
Tpte	A	G	8: 22,796,959 (GRCm39)	T94A	probably benign	Het
Usp40	A	C	1: 87,894,917 (GRCm39)	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,783,378 (GRCm39)	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,486,383 (GRCm39)		probably null	Het

Other mutations in Ccdc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ccdc13	APN	9	121,639,150 (GRCm39)	splice site	probably benign
IGL01306:Ccdc13	APN	9	121,656,429 (GRCm39)	missense	probably benign	0.37
ANU23:Ccdc13	UTSW	9	121,656,429 (GRCm39)	missense	probably benign	0.37
R0112:Ccdc13	UTSW	9	121,642,547 (GRCm39)	missense	probably damaging	0.98
R0144:Ccdc13	UTSW	9	121,656,417 (GRCm39)	missense	probably damaging	0.98
R0360:Ccdc13	UTSW	9	121,627,282 (GRCm39)	missense	probably damaging	1.00
R0364:Ccdc13	UTSW	9	121,627,282 (GRCm39)	missense	probably damaging	1.00
R1441:Ccdc13	UTSW	9	121,642,515 (GRCm39)	missense	probably benign	0.44
R1674:Ccdc13	UTSW	9	121,638,208 (GRCm39)	missense	probably damaging	1.00
R1691:Ccdc13	UTSW	9	121,654,134 (GRCm39)	splice site	probably null
R1710:Ccdc13	UTSW	9	121,648,647 (GRCm39)	missense	probably damaging	1.00
R3821:Ccdc13	UTSW	9	121,660,085 (GRCm39)	missense	probably damaging	1.00
R3822:Ccdc13	UTSW	9	121,660,085 (GRCm39)	missense	probably damaging	1.00
R3962:Ccdc13	UTSW	9	121,628,005 (GRCm39)	intron	probably benign
R4695:Ccdc13	UTSW	9	121,649,826 (GRCm39)	missense	probably damaging	1.00
R4758:Ccdc13	UTSW	9	121,662,800 (GRCm39)	missense	possibly damaging	0.91
R5058:Ccdc13	UTSW	9	121,646,613 (GRCm39)	intron	probably benign
R5283:Ccdc13	UTSW	9	121,637,254 (GRCm39)	missense	probably damaging	1.00
R5436:Ccdc13	UTSW	9	121,628,109 (GRCm39)	missense	probably benign	0.06
R5601:Ccdc13	UTSW	9	121,629,638 (GRCm39)	nonsense	probably null
R5623:Ccdc13	UTSW	9	121,662,799 (GRCm39)	missense	probably damaging	0.99
R5653:Ccdc13	UTSW	9	121,627,853 (GRCm39)	makesense	probably null
R5665:Ccdc13	UTSW	9	121,643,356 (GRCm39)	missense	probably damaging	0.99
R5975:Ccdc13	UTSW	9	121,656,301 (GRCm39)	missense	probably benign	0.00
R6212:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6213:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6214:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6215:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6222:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6223:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R6257:Ccdc13	UTSW	9	121,627,975 (GRCm39)	intron	probably benign
R7053:Ccdc13	UTSW	9	121,662,904 (GRCm39)	missense	probably damaging	0.97
R7664:Ccdc13	UTSW	9	121,643,279 (GRCm39)	missense	probably benign	0.01
R7909:Ccdc13	UTSW	9	121,662,926 (GRCm39)	missense	probably benign	0.01
R7943:Ccdc13	UTSW	9	121,628,196 (GRCm39)	missense	unknown
R8464:Ccdc13	UTSW	9	121,649,824 (GRCm39)	missense	probably damaging	0.98
R8827:Ccdc13	UTSW	9	121,645,765 (GRCm39)	missense	probably benign	0.09
R9445:Ccdc13	UTSW	9	121,627,156 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCAGTGAGTGTCCACAGAGG -3'
(R):5'- ATGAACATAGGCTGGCCCTC -3'

Sequencing Primer
(F):5'- TTGCTCCCCAGAGGTACAC -3'
(R):5'- GGCCCTCAGCTTTCATTTTCTAATAC -3'

Posted On

2019-12-04