Mutagenetix > Incidental Mutation

Incidental Mutation 'R8104:Ccdc112'

630675

Institutional Source

Beutler Lab

Gene Symbol

Ccdc112

Ensembl Gene

ENSMUSG00000071855

Gene Name

coiled-coil domain containing 112

Synonyms

8430438M01Rik

MMRRC Submission

067535-MU

Accession Numbers

Essential gene?

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

Stock #

R8104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46415218-46444995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46420720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 343 (S343R)

Ref Sequence

ENSEMBL: ENSMUSP00000072614 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072835
AA Change: S343R

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072614
Gene: ENSMUSG00000071855
AA Change: S343R

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.6%
20x: 94.6%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	C	A	17: 57,152,443 (GRCm39)	L666F	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Apoc3	T	G	9: 46,144,585 (GRCm39)	D79A	probably damaging	Het
Arfgap1	T	A	2: 180,621,022 (GRCm39)		probably null	Het
Ascc1	T	C	10: 59,843,551 (GRCm39)	S38P	probably benign	Het
Asl	C	T	5: 130,040,791 (GRCm39)	E389K	probably benign	Het
Atat1	A	T	17: 36,215,008 (GRCm39)	I215K	probably benign	Het
Bod1l	A	T	5: 41,991,075 (GRCm39)	L160*	probably null	Het
Cbl	C	A	9: 44,069,836 (GRCm39)	S637I	possibly damaging	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Cspg4b	T	A	13: 113,456,263 (GRCm39)	F770I		Het
Dlgap3	A	G	4: 127,129,947 (GRCm39)	E907G	probably damaging	Het
Dsp	A	T	13: 38,352,600 (GRCm39)	E159D	probably benign	Het
Ech1	G	A	7: 28,524,728 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,971,485 (GRCm39)	N710K	possibly damaging	Het
Fbxw28	A	T	9: 109,155,357 (GRCm39)		probably null	Het
Gm4871	G	C	5: 144,969,012 (GRCm39)	D100E	probably damaging	Het
Got1l1	A	G	8: 27,687,619 (GRCm39)	I388T	probably damaging	Het
Ing5	T	A	1: 93,744,166 (GRCm39)	N184K	probably damaging	Het
Izumo3	A	T	4: 92,035,145 (GRCm39)	L24*	probably null	Het
Lig1	T	C	7: 13,020,491 (GRCm39)	V99A	possibly damaging	Het
Mbtps1	A	G	8: 120,255,794 (GRCm39)	Y488H	possibly damaging	Het
Muc5ac	A	G	7: 141,358,520 (GRCm39)	Y1240C	possibly damaging	Het
Nav3	T	C	10: 109,594,828 (GRCm39)	T1458A	probably damaging	Het
Nedd1	T	C	10: 92,527,778 (GRCm39)	E472G	probably damaging	Het
Nod2	A	T	8: 89,391,685 (GRCm39)	H664L	possibly damaging	Het
Ntrk3	A	G	7: 78,227,450 (GRCm39)	S28P	probably damaging	Het
Or14a257	A	G	7: 86,138,231 (GRCm39)	F176S	probably damaging	Het
Or1i2	C	T	10: 78,448,242 (GRCm39)	V78I	probably benign	Het
Or2ag17	T	A	7: 106,390,338 (GRCm39)		probably benign	Het
Or2ag17	C	A	7: 106,390,337 (GRCm39)		probably benign	Het
Or6c66b	T	A	10: 129,376,826 (GRCm39)	M140K	probably benign	Het
Pcdha4	G	T	18: 37,087,106 (GRCm39)	G430W	probably damaging	Het
Pcnx1	T	A	12: 82,030,385 (GRCm39)	Y1114*	probably null	Het
Pde6a	T	A	18: 61,364,566 (GRCm39)	D207E	probably damaging	Het
Plekhg1	T	A	10: 3,902,326 (GRCm39)	I540N		Het
Pnp2	A	T	14: 51,197,099 (GRCm39)	I62F	probably benign	Het
Rarg	C	A	15: 102,148,334 (GRCm39)	D258Y	probably damaging	Het
Rnps1	T	A	17: 24,643,484 (GRCm39)	M262K	unknown	Het
Scaf11	T	C	15: 96,316,483 (GRCm39)	D1027G	probably benign	Het
Serpina3a	A	T	12: 104,079,110 (GRCm39)		probably benign	Het
Slc25a1	A	G	16: 17,744,297 (GRCm39)		probably null	Het
Slc44a3	A	C	3: 121,291,521 (GRCm39)	V365G	probably benign	Het
Slc45a3	T	C	1: 131,904,754 (GRCm39)	F26L	probably benign	Het
Slc9a2	T	A	1: 40,757,809 (GRCm39)	I116K	probably damaging	Het
Stk36	T	A	1: 74,665,756 (GRCm39)	S700T	probably benign	Het
Tekt3	A	G	11: 62,968,945 (GRCm39)	D224G	probably benign	Het
Tgtp1	A	T	11: 48,877,841 (GRCm39)	I288N	probably damaging	Het
Ttn	C	T	2: 76,710,567 (GRCm39)	V8485M	unknown	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Uso1	T	A	5: 92,306,280 (GRCm39)	I79K	probably damaging	Het
Utp20	C	T	10: 88,593,766 (GRCm39)	D2215N	probably damaging	Het
Wdr43	C	T	17: 71,923,350 (GRCm39)	A32V	probably benign	Het
Zfp704	T	C	3: 9,630,301 (GRCm39)	D170G	probably benign	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
R8060:Ccdc112	UTSW	18	46,426,529 (GRCm39)	missense	probably damaging	1.00
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'- ATCTCCTGCTCAAGCCTCAG -3'
(R):5'- TGGCTGATCTGATCGTAAGC -3'

Sequencing Primer
(F):5'- GCTCAAGCCTCAGGAACTCTTC -3'
(R):5'- CTGATCTGATCGTAAGCTTGTTTG -3'

Posted On

2020-06-30