Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Ccdc13'

501692

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121827235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 171 (Q171K)

Ref Sequence

ENSEMBL: ENSMUSP00000114787 (fasta)

Gene Model

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

AlphaFold

D3YV10

Predicted Effect

probably benign
Transcript: ENSMUST00000135986
AA Change: Q171K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: Q171K

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 137,387,292 (GRCm38)		probably benign	Het
Abhd14a	A	T	9: 106,443,951 (GRCm38)		probably null	Het
Actn2	T	C	13: 12,340,497 (GRCm38)	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567 (GRCm38)	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783 (GRCm38)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749 (GRCm38)	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447 (GRCm38)		probably null	Het
Bltp1	C	T	3: 36,969,221 (GRCm38)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 154,136,321 (GRCm38)	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864 (GRCm38)		probably benign	Het
Cabin1	A	T	10: 75,657,839 (GRCm38)	L1655H	probably damaging	Het
Ccdc33	T	A	9: 58,117,478 (GRCm38)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619 (GRCm38)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240 (GRCm38)		probably benign	Het
Celsr1	G	T	15: 85,919,038 (GRCm38)		probably null	Het
Cenpj	A	T	14: 56,564,066 (GRCm38)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890 (GRCm38)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626 (GRCm38)	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793 (GRCm38)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209 (GRCm38)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009 (GRCm38)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282 (GRCm38)	D279A	probably damaging	Het
Dnai4	G	A	4: 103,049,589 (GRCm38)	P676S	probably benign	Het
Efcab3	A	G	11: 104,687,549 (GRCm38)		probably benign	Het
Enpp3	A	G	10: 24,774,842 (GRCm38)	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406 (GRCm38)	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432 (GRCm38)		probably null	Het
Fbxw15	A	T	9: 109,555,252 (GRCm38)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103 (GRCm38)	V62I	probably benign	Het
Gart	A	G	16: 91,624,336 (GRCm38)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323 (GRCm38)	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174 (GRCm38)		noncoding transcript	Het
Gm9925	T	A	18: 74,065,516 (GRCm38)		probably benign	Het
Gsdme	T	C	6: 50,227,359 (GRCm38)	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050 (GRCm38)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359 (GRCm38)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748 (GRCm38)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128 (GRCm38)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321 (GRCm38)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470 (GRCm38)	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508 (GRCm38)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115 (GRCm38)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788 (GRCm38)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619 (GRCm38)		probably null	Het
P4ha2	G	A	11: 54,126,412 (GRCm38)		probably null	Het
Pcdha9	T	A	18: 36,999,111 (GRCm38)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988 (GRCm38)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253 (GRCm38)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691 (GRCm38)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370 (GRCm38)		probably benign	Het
Prb1c	A	G	6: 132,362,073 (GRCm38)	S61P	unknown	Het
Prmt9	T	C	8: 77,561,018 (GRCm38)		probably benign	Het
Rab26	T	C	17: 24,530,399 (GRCm38)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580 (GRCm38)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225 (GRCm38)	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763 (GRCm38)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780 (GRCm38)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000 (GRCm38)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778 (GRCm38)	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773 (GRCm38)	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205 (GRCm38)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271 (GRCm38)		noncoding transcript	Het
Ttn	G	A	2: 76,761,235 (GRCm38)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626 (GRCm38)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351 (GRCm38)	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128 (GRCm38)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,386,275 (GRCm38)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615 (GRCm38)	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441 (GRCm38)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163 (GRCm38)	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092 (GRCm38)	Y187N	possibly damaging	Het

Other mutations in Ccdc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ccdc13	APN	9	121,810,084 (GRCm38)	splice site	probably benign
IGL01306:Ccdc13	APN	9	121,827,363 (GRCm38)	missense	probably benign	0.37
ANU23:Ccdc13	UTSW	9	121,827,363 (GRCm38)	missense	probably benign	0.37
R0112:Ccdc13	UTSW	9	121,813,481 (GRCm38)	missense	probably damaging	0.98
R0144:Ccdc13	UTSW	9	121,827,351 (GRCm38)	missense	probably damaging	0.98
R0360:Ccdc13	UTSW	9	121,798,216 (GRCm38)	missense	probably damaging	1.00
R0364:Ccdc13	UTSW	9	121,798,216 (GRCm38)	missense	probably damaging	1.00
R1441:Ccdc13	UTSW	9	121,813,449 (GRCm38)	missense	probably benign	0.44
R1674:Ccdc13	UTSW	9	121,809,142 (GRCm38)	missense	probably damaging	1.00
R1691:Ccdc13	UTSW	9	121,825,068 (GRCm38)	splice site	probably null
R1710:Ccdc13	UTSW	9	121,819,581 (GRCm38)	missense	probably damaging	1.00
R3821:Ccdc13	UTSW	9	121,831,019 (GRCm38)	missense	probably damaging	1.00
R3822:Ccdc13	UTSW	9	121,831,019 (GRCm38)	missense	probably damaging	1.00
R3962:Ccdc13	UTSW	9	121,798,939 (GRCm38)	intron	probably benign
R4695:Ccdc13	UTSW	9	121,820,760 (GRCm38)	missense	probably damaging	1.00
R4758:Ccdc13	UTSW	9	121,833,734 (GRCm38)	missense	possibly damaging	0.91
R5058:Ccdc13	UTSW	9	121,817,547 (GRCm38)	intron	probably benign
R5283:Ccdc13	UTSW	9	121,808,188 (GRCm38)	missense	probably damaging	1.00
R5436:Ccdc13	UTSW	9	121,799,043 (GRCm38)	missense	probably benign	0.06
R5601:Ccdc13	UTSW	9	121,800,572 (GRCm38)	nonsense	probably null
R5623:Ccdc13	UTSW	9	121,833,733 (GRCm38)	missense	probably damaging	0.99
R5653:Ccdc13	UTSW	9	121,798,787 (GRCm38)	makesense	probably null
R5665:Ccdc13	UTSW	9	121,814,290 (GRCm38)	missense	probably damaging	0.99
R6212:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6213:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6214:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6215:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6222:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6223:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R6257:Ccdc13	UTSW	9	121,798,909 (GRCm38)	intron	probably benign
R7053:Ccdc13	UTSW	9	121,833,838 (GRCm38)	missense	probably damaging	0.97
R7664:Ccdc13	UTSW	9	121,814,213 (GRCm38)	missense	probably benign	0.01
R7909:Ccdc13	UTSW	9	121,833,860 (GRCm38)	missense	probably benign	0.01
R7943:Ccdc13	UTSW	9	121,799,130 (GRCm38)	missense	unknown
R8464:Ccdc13	UTSW	9	121,820,758 (GRCm38)	missense	probably damaging	0.98
R8827:Ccdc13	UTSW	9	121,816,699 (GRCm38)	missense	probably benign	0.09
R9445:Ccdc13	UTSW	9	121,798,090 (GRCm38)	missense	probably benign	0.01
RF006:Ccdc13	UTSW	9	121,814,207 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTCTTCTCAATGGCCAG -3'
(R):5'- ATGCTCTGAACAGCTGTGC -3'

Sequencing Primer
(F):5'- TCAATGGCCAGTGTCCCCTAG -3'
(R):5'- TGAACAGCTGTGCAGATTTGAG -3'

Posted On

2017-12-01