Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Ccdc13'

444352

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

2900041A11Rik

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

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

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121626693-121668527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121643356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 348 (K348N)

Ref Sequence

ENSEMBL: ENSMUSP00000114787 (fasta)

Gene Model

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

AlphaFold

D3YV10

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126851

Predicted Effect

probably damaging
Transcript: ENSMUST00000135986
AA Change: K348N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: K348N

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: ENSMUST00000140929

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

noncoding transcript
Transcript: ENSMUST00000146716

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	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
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
RF006:Ccdc13	UTSW	9	121,643,273 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTATAGGAAGCATGTCTGGG -3'
(R):5'- AGTGCCTGTCAGAAAAGCGG -3'

Sequencing Primer
(F):5'- AAGCATGTCTGGGGTGGCTC -3'
(R):5'- AGAGCTGAGTCTGCATGAGTC -3'

Posted On

2016-11-09