Mutagenetix > Incidental Mutation

Incidental Mutation 'R6336:Ccdc152'

510775

Institutional Source

Beutler Lab

Gene Symbol

Ccdc152

Ensembl Gene

ENSMUSG00000091119

Gene Name

coiled-coil domain containing 152

Synonyms

ENSMUSG00000071814

MMRRC Submission

044490-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R6336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3309552-3333008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3330611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 21 (I21M)

Ref Sequence

ENSEMBL: ENSMUSP00000153740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165386] [ENSMUST00000226261] [ENSMUST00000228405]

AlphaFold

E9PX14

Predicted Effect

probably damaging
Transcript: ENSMUST00000165386
AA Change: I21M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119
AA Change: I21M

Domain	Start	End	E-Value	Type
coiled coil region	76	186	N/A	INTRINSIC
coiled coil region	211	250	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226261
AA Change: I21M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228405
AA Change: I21M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,331,349 (GRCm39)	P955Q	possibly damaging	Het
Adgrv1	T	C	13: 81,534,100 (GRCm39)	N5827S	probably benign	Het
Akt3	T	C	1: 176,859,278 (GRCm39)	D431G	probably damaging	Het
Anapc16	A	T	10: 59,824,651 (GRCm39)	V76D	possibly damaging	Het
Ankib1	A	T	5: 3,750,377 (GRCm39)	Y755*	probably null	Het
Ankrd6	A	G	4: 32,860,411 (GRCm39)	S11P	probably damaging	Het
Card6	T	A	15: 5,128,646 (GRCm39)	K917*	probably null	Het
Ccdc40	A	G	11: 119,122,819 (GRCm39)	E207G	possibly damaging	Het
Clca3a2	G	T	3: 144,512,239 (GRCm39)	A499E	probably benign	Het
Cntnap5b	C	T	1: 100,286,394 (GRCm39)	A383V	probably benign	Het
Ddo	T	C	10: 40,509,027 (GRCm39)	V89A	probably damaging	Het
Depdc5	T	C	5: 33,121,851 (GRCm39)	176	probably null	Het
Dlgap1	T	A	17: 71,122,284 (GRCm39)	D904E	probably damaging	Het
Ephb4	T	A	5: 137,370,347 (GRCm39)	L849H	probably damaging	Het
Fbxl13	A	G	5: 21,728,545 (GRCm39)		probably null	Het
Fer1l6	C	A	15: 58,431,081 (GRCm39)	Y245*	probably null	Het
Foxred2	A	G	15: 77,839,964 (GRCm39)	Y109H	probably damaging	Het
Gabarapl1	A	G	6: 129,514,491 (GRCm39)	D43G	probably benign	Het
Gabrb1	A	C	5: 72,187,241 (GRCm39)	E178A	possibly damaging	Het
Gbp11	A	G	5: 105,473,355 (GRCm39)			Het
Grin3b	C	A	10: 79,812,295 (GRCm39)	A845E	probably damaging	Het
Hoxd4	A	G	2: 74,557,705 (GRCm39)	Y28C	probably damaging	Het
Igsf10	G	A	3: 59,237,760 (GRCm39)	T807M	probably benign	Het
Kcnt1	A	G	2: 25,778,767 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,375,939 (GRCm39)	T565K	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Mok	A	G	12: 110,800,558 (GRCm39)		probably null	Het
Mto1	A	T	9: 78,381,117 (GRCm39)	I73F	probably damaging	Het
Mtss2	G	A	8: 111,458,796 (GRCm39)	D310N	probably damaging	Het
Ncf2	T	C	1: 152,709,821 (GRCm39)	Y393H	probably damaging	Het
Or13c25	A	T	4: 52,911,459 (GRCm39)	C112S	probably damaging	Het
Or2f1b	T	C	6: 42,739,591 (GRCm39)	S202P	probably damaging	Het
Or2y14	G	T	11: 49,405,369 (GRCm39)	K301N	probably damaging	Het
Or4f47	A	C	2: 111,972,751 (GRCm39)	I154L	probably benign	Het
Or4k49	A	G	2: 111,494,964 (GRCm39)	H131R	possibly damaging	Het
Or52z1	T	C	7: 103,437,452 (GRCm39)	T11A	possibly damaging	Het
Phxr2	T	A	10: 98,961,952 (GRCm39)		probably benign	Het
Potefam3f	A	G	8: 20,499,951 (GRCm39)	K242E	unknown	Het
Rnf17	A	G	14: 56,658,626 (GRCm39)		probably null	Het
Serpinb9d	T	C	13: 33,378,677 (GRCm39)	M41T	probably damaging	Het
Slc12a5	T	A	2: 164,834,384 (GRCm39)		probably null	Het
Slc22a6	G	A	19: 8,599,494 (GRCm39)	R331H	probably benign	Het
Spg11	G	C	2: 121,943,440 (GRCm39)		probably null	Het
Src	T	A	2: 157,299,075 (GRCm39)	V24E	probably benign	Het
Srgap1	A	T	10: 121,761,846 (GRCm39)	Y101N	probably benign	Het
Vmn2r30	T	A	7: 7,337,307 (GRCm39)	T110S	probably benign	Het
Vwa3a	A	G	7: 120,361,646 (GRCm39)	E119G	possibly damaging	Het
Whamm	T	A	7: 81,241,512 (GRCm39)	D274E	probably damaging	Het

Other mutations in Ccdc152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Ccdc152	APN	15	3,323,329 (GRCm39)	splice site	probably benign
IGL01543:Ccdc152	APN	15	3,327,606 (GRCm39)	missense	possibly damaging	0.91
R0622:Ccdc152	UTSW	15	3,327,660 (GRCm39)	missense	probably damaging	0.96
R1605:Ccdc152	UTSW	15	3,327,603 (GRCm39)	missense	probably damaging	0.99
R2875:Ccdc152	UTSW	15	3,327,663 (GRCm39)	missense	probably damaging	1.00
R2876:Ccdc152	UTSW	15	3,327,663 (GRCm39)	missense	probably damaging	1.00
R4990:Ccdc152	UTSW	15	3,330,639 (GRCm39)	missense	probably benign	0.00
R5114:Ccdc152	UTSW	15	3,312,319 (GRCm39)	missense	probably damaging	0.99
R5732:Ccdc152	UTSW	15	3,321,860 (GRCm39)	critical splice donor site	probably null
R6704:Ccdc152	UTSW	15	3,310,195 (GRCm39)	missense	probably damaging	1.00
R7593:Ccdc152	UTSW	15	3,310,137 (GRCm39)	missense	probably damaging	1.00
R8300:Ccdc152	UTSW	15	3,327,634 (GRCm39)	missense	probably benign	0.00
R9061:Ccdc152	UTSW	15	3,330,643 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTCATGGAATCTATTGTAGAC -3'
(R):5'- TCCGAGTATATCAAACGTTCTCC -3'

Sequencing Primer
(F):5'- TGGCATCTTCGAAACCATGG -3'
(R):5'- CATGTAAAATGGAGCTCAGAGGAC -3'

Posted On

2018-04-02