Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Ccdc112'

619677

Institutional Source

Beutler Lab

Gene Symbol

Ccdc112

Ensembl Gene

ENSMUSG00000071855

Gene Name

coiled-coil domain containing 112

Synonyms

8430438M01Rik

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46415218-46444995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46426529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 131 (I131M)

Ref Sequence

ENSEMBL: ENSMUSP00000072614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072835]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072835
AA Change: I131M

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

SMART Domains

Protein: ENSMUSP00000072614
Gene: ENSMUSG00000071855
AA Change: I131M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
coiled coil region	111	199	N/A	INTRINSIC
coiled coil region	300	332	N/A	INTRINSIC
low complexity region	345	355	N/A	INTRINSIC
coiled coil region	362	483	N/A	INTRINSIC

Meta Mutation Damage Score

0.0648

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Cts3	T	A	13: 61,714,580 (GRCm39)	I242F	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or4p7	A	G	2: 88,221,848 (GRCm39)	T86A	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Rnpep	T	C	1: 135,194,658 (GRCm39)	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,925,336 (GRCm39)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	possibly damaging	Het

Other mutations in Ccdc112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Ccdc112	APN	18	46,426,511 (GRCm39)	missense	possibly damaging	0.81
IGL02860:Ccdc112	APN	18	46,420,509 (GRCm39)	missense	probably benign	0.00
R0546:Ccdc112	UTSW	18	46,424,139 (GRCm39)	missense	possibly damaging	0.73
R0566:Ccdc112	UTSW	18	46,423,877 (GRCm39)	missense	probably damaging	0.97
R1815:Ccdc112	UTSW	18	46,424,173 (GRCm39)	missense	possibly damaging	0.85
R1847:Ccdc112	UTSW	18	46,420,821 (GRCm39)	missense	possibly damaging	0.80
R1853:Ccdc112	UTSW	18	46,418,767 (GRCm39)	missense	probably benign	0.07
R2011:Ccdc112	UTSW	18	46,420,499 (GRCm39)	missense	probably damaging	1.00
R3787:Ccdc112	UTSW	18	46,432,365 (GRCm39)	missense	probably benign	0.03
R4519:Ccdc112	UTSW	18	46,420,613 (GRCm39)	missense	possibly damaging	0.94
R4795:Ccdc112	UTSW	18	46,420,739 (GRCm39)	missense	probably benign	0.20
R4873:Ccdc112	UTSW	18	46,429,356 (GRCm39)	missense	probably damaging	1.00
R4875:Ccdc112	UTSW	18	46,429,356 (GRCm39)	missense	probably damaging	1.00
R7208:Ccdc112	UTSW	18	46,420,698 (GRCm39)	missense	probably damaging	1.00
R7807:Ccdc112	UTSW	18	46,423,826 (GRCm39)	missense	probably damaging	0.99
R7849:Ccdc112	UTSW	18	46,429,390 (GRCm39)	missense	probably benign	0.30
R8104:Ccdc112	UTSW	18	46,420,720 (GRCm39)	missense	probably benign	0.37
R8886:Ccdc112	UTSW	18	46,444,826 (GRCm39)	missense	unknown
R9005:Ccdc112	UTSW	18	46,429,455 (GRCm39)	missense	probably damaging	1.00
R9433:Ccdc112	UTSW	18	46,424,040 (GRCm39)	missense	probably benign	0.44
R9708:Ccdc112	UTSW	18	46,444,780 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACAAAGGAGGGCTGGCTC -3'
(R):5'- TCAGGTTTTCAGTAAGGCGG -3'

Sequencing Primer
(F):5'- GGCTCCACCAATTCCAAATGG -3'
(R):5'- CCAGTGCTCCGTTCAAATATTGGG -3'

Posted On

2020-01-23