Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Ccdc116'

598602

Institutional Source

Beutler Lab

Gene Symbol

Ccdc116

Ensembl Gene

ENSMUSG00000022768

Gene Name

coiled-coil domain containing 116

Synonyms

4930432J16Rik

MMRRC Submission

045827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16956928-16965093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16957455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 568 (E568G)

Ref Sequence

ENSEMBL: ENSMUSP00000156301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023452] [ENSMUST00000115711] [ENSMUST00000231597] [ENSMUST00000232033] [ENSMUST00000232540]

AlphaFold

Q80X53

Predicted Effect

probably benign
Transcript: ENSMUST00000023452

SMART Domains

Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115711

SMART Domains

Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768

Domain	Start	End	E-Value	Type
Pfam:DUF4702	18	411	6.3e-223	PFAM
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231597

Predicted Effect

probably benign
Transcript: ENSMUST00000232033

Predicted Effect

probably benign
Transcript: ENSMUST00000232540
AA Change: E568G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,069,535 (GRCm39)	A1287T	probably damaging	Het
Ahnak	A	G	19: 8,992,411 (GRCm39)	K4565R	probably damaging	Het
Asb13	A	G	13: 3,699,463 (GRCm39)	Y221C	probably damaging	Het
BB014433	C	T	8: 15,092,395 (GRCm39)	V153M	probably damaging	Het
Brip1	T	C	11: 85,952,850 (GRCm39)	E977G	probably benign	Het
C3	T	A	17: 57,522,797 (GRCm39)	D1029V	probably damaging	Het
Cdhr2	T	C	13: 54,866,088 (GRCm39)	V296A	probably damaging	Het
Cenpe	A	G	3: 134,946,702 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,491,753 (GRCm39)	V357A	probably damaging	Het
Coa3	A	T	11: 101,169,641 (GRCm39)	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,675,947 (GRCm39)	N255S	probably benign	Het
Cysrt1	T	C	2: 25,129,237 (GRCm39)	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,690,842 (GRCm39)	E52G	possibly damaging	Het
Derl1	T	C	15: 57,743,436 (GRCm39)	D97G	probably damaging	Het
Ebf3	A	G	7: 136,911,092 (GRCm39)	Y141H	probably damaging	Het
Eci1	T	A	17: 24,652,125 (GRCm39)	L49*	probably null	Het
Gzma	C	T	13: 113,234,829 (GRCm39)	C54Y	probably damaging	Het
Hydin	A	G	8: 111,291,717 (GRCm39)	N3403S	probably damaging	Het
Ide	T	C	19: 37,275,525 (GRCm39)	N495D		Het
Ighv1-23	T	A	12: 114,728,356 (GRCm39)	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,228,172 (GRCm39)	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,336,949 (GRCm39)	H272N	probably damaging	Het
Lrp6	C	T	6: 134,439,579 (GRCm39)	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,916,476 (GRCm39)	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,740,636 (GRCm39)	E121G	probably damaging	Het
Mzt1	A	T	14: 99,278,012 (GRCm39)	I52N	probably damaging	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or52z12	A	G	7: 103,233,297 (GRCm39)	I23V	probably benign	Het
Or7e166	T	A	9: 19,624,767 (GRCm39)	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,619,962 (GRCm39)	Y584S	possibly damaging	Het
Per3	A	T	4: 151,110,657 (GRCm39)	D380E	probably damaging	Het
Per3	A	T	4: 151,125,902 (GRCm39)	L139Q	probably damaging	Het
Pgap6	T	C	17: 26,341,047 (GRCm39)	Y717H	probably damaging	Het
Pik3cg	T	C	12: 32,254,013 (GRCm39)	H658R	probably benign	Het
Pitpnm3	G	A	11: 71,952,314 (GRCm39)	Q626*	probably null	Het
Polr3e	T	C	7: 120,539,801 (GRCm39)	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,224 (GRCm39)	H866L	possibly damaging	Het
Rnf150	A	G	8: 83,590,832 (GRCm39)	E65G	probably benign	Het
Sema3f	C	A	9: 107,569,625 (GRCm39)	R100L	possibly damaging	Het
Skic3	A	G	13: 76,283,149 (GRCm39)	H792R	probably benign	Het
Smim18	T	C	8: 34,232,370 (GRCm39)	D83G	possibly damaging	Het
Snx13	T	A	12: 35,174,527 (GRCm39)	D685E	probably benign	Het
Stat5a	A	C	11: 100,754,045 (GRCm39)	N125T	probably benign	Het
Stk24	T	C	14: 121,575,045 (GRCm39)	E21G	probably damaging	Het
Tasor	A	G	14: 27,189,516 (GRCm39)	T923A	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tmprss11b	A	T	5: 86,809,554 (GRCm39)		probably null	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc39a	T	C	4: 109,288,647 (GRCm39)	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,287,460 (GRCm39)		probably null	Het
Wdr73	G	A	7: 80,542,975 (GRCm39)	A211V	probably benign	Het
Zc3h4	T	C	7: 16,163,824 (GRCm39)	V673A	unknown	Het
Zfp382	A	G	7: 29,832,760 (GRCm39)	H137R	probably damaging	Het
Zp2	T	G	7: 119,742,865 (GRCm39)	D89A	probably damaging	Het
Zpld2	A	T	4: 133,922,754 (GRCm39)	N526K	probably benign	Het
Zranb3	A	C	1: 127,960,605 (GRCm39)	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,763,048 (GRCm39)	V316I	probably damaging	Het

Other mutations in Ccdc116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Ccdc116	APN	16	16,959,856 (GRCm39)	missense	probably damaging	1.00
IGL01905:Ccdc116	APN	16	16,960,425 (GRCm39)	missense	probably damaging	0.99
IGL02751:Ccdc116	APN	16	16,959,836 (GRCm39)	missense	probably benign	0.00
IGL03183:Ccdc116	APN	16	16,960,718 (GRCm39)	missense	probably benign	0.07
R0009:Ccdc116	UTSW	16	16,961,903 (GRCm39)	missense	probably damaging	1.00
R0009:Ccdc116	UTSW	16	16,961,903 (GRCm39)	missense	probably damaging	1.00
R0122:Ccdc116	UTSW	16	16,960,598 (GRCm39)	missense	probably damaging	1.00
R0219:Ccdc116	UTSW	16	16,959,476 (GRCm39)	missense	possibly damaging	0.93
R1664:Ccdc116	UTSW	16	16,960,492 (GRCm39)	missense	probably benign	0.02
R1718:Ccdc116	UTSW	16	16,959,772 (GRCm39)	missense	probably benign
R2921:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R2922:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R2923:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R4119:Ccdc116	UTSW	16	16,960,051 (GRCm39)	missense	probably damaging	1.00
R4223:Ccdc116	UTSW	16	16,964,809 (GRCm39)	unclassified	probably benign
R5000:Ccdc116	UTSW	16	16,959,657 (GRCm39)	missense	possibly damaging	0.95
R5293:Ccdc116	UTSW	16	16,959,651 (GRCm39)	missense	possibly damaging	0.92
R5435:Ccdc116	UTSW	16	16,960,626 (GRCm39)	missense	probably benign	0.38
R6694:Ccdc116	UTSW	16	16,960,655 (GRCm39)	missense	probably benign	0.44
R7215:Ccdc116	UTSW	16	16,957,792 (GRCm39)	missense	probably damaging	1.00
R7247:Ccdc116	UTSW	16	16,957,555 (GRCm39)	missense	possibly damaging	0.89
R9591:Ccdc116	UTSW	16	16,960,598 (GRCm39)	missense	probably damaging	1.00
Z1088:Ccdc116	UTSW	16	16,965,035 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCTCCAACTCATGCAAAGG -3'
(R):5'- TTGTCACAGCAGGCCCTAAG -3'

Sequencing Primer
(F):5'- CTCATGCAAAGGCGGGCTAG -3'
(R):5'- GCAGGCCCTAAGACATGC -3'

Posted On

2019-11-26