Mutagenetix > Incidental Mutation

Incidental Mutation 'R6482:Ccdc110'

517169

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

044614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46395825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 572 (Q572L)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095326] [ENSMUST00000174815]

AlphaFold

Q3V125

Predicted Effect

probably benign
Transcript: ENSMUST00000095326
AA Change: Q572L

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

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: Q572L

Domain	Start	End	E-Value	Type
coiled coil region	442	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,902,388 (GRCm39)	I415V	probably benign	Het
Akap8l	A	G	17: 32,564,370 (GRCm39)	F6L	possibly damaging	Het
Ano3	T	A	2: 110,527,400 (GRCm39)	N603Y	probably damaging	Het
Casp8ap2	T	C	4: 32,634,813 (GRCm39)	S116P	probably damaging	Het
Chit1	T	C	1: 134,070,980 (GRCm39)	S20P	probably damaging	Het
Col22a1	G	A	15: 71,762,338 (GRCm39)	P107L	possibly damaging	Het
Dpys	T	C	15: 39,705,369 (GRCm39)	H248R	probably damaging	Het
Dsg2	A	T	18: 20,734,371 (GRCm39)	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,670,637 (GRCm39)	V321E	probably damaging	Het
Eif1ad13	A	G	12: 87,762,565 (GRCm39)	Y95C	probably damaging	Het
Fbxo11	A	T	17: 88,320,086 (GRCm39)	Y209N	probably benign	Het
Gm35315	A	T	5: 110,225,955 (GRCm39)	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,457,724 (GRCm39)	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,333,670 (GRCm39)	L203P	probably damaging	Het
Itgav	T	C	2: 83,624,614 (GRCm39)	S735P	probably damaging	Het
Klrg1	G	T	6: 122,248,412 (GRCm39)	C162*	probably null	Het
Mcc	T	C	18: 44,578,931 (GRCm39)	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,027,896 (GRCm39)	I15F	probably damaging	Het
Nppa	G	A	4: 148,085,328 (GRCm39)	V13I	probably benign	Het
Obi1	A	T	14: 104,717,253 (GRCm39)	C373*	probably null	Het
Or8i2	G	C	2: 86,852,869 (GRCm39)	F6L	probably benign	Het
Pde2a	A	G	7: 101,150,244 (GRCm39)	N228D	probably benign	Het
Pgpep1l	C	T	7: 67,888,815 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,778 (GRCm39)	N673D	probably benign	Het
Plxna4	A	G	6: 32,493,672 (GRCm39)	S315P	probably benign	Het
Psg21	A	T	7: 18,388,664 (GRCm39)		probably null	Het
Rnf111	T	C	9: 70,336,889 (GRCm39)	T925A	probably damaging	Het
Spag9	T	C	11: 93,984,328 (GRCm39)	F734L	possibly damaging	Het
Tarbp1	A	G	8: 127,177,434 (GRCm39)	V746A	probably benign	Het
Tmtc1	A	G	6: 148,314,243 (GRCm39)	F119L	probably benign	Het
Ttc21b	A	G	2: 66,057,244 (GRCm39)	M576T	probably benign	Het
Usp48	T	A	4: 137,362,232 (GRCm39)	V765E	probably damaging	Het
Vmn1r20	A	G	6: 57,409,093 (GRCm39)	S140G	probably benign	Het
Vwde	A	G	6: 13,205,843 (GRCm39)	S235P	probably damaging	Het
Wapl	A	G	14: 34,414,649 (GRCm39)	S504G	probably benign	Het
Wnt5b	A	T	6: 119,410,573 (GRCm39)	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,609,376 (GRCm39)		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zfp948	A	G	17: 21,807,813 (GRCm39)	H335R	probably benign	Het

Other mutations in Ccdc110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Ccdc110	APN	8	46,395,161 (GRCm39)	missense	possibly damaging	0.76
IGL02175:Ccdc110	APN	8	46,393,660 (GRCm39)	missense	probably benign	0.07
IGL02471:Ccdc110	APN	8	46,394,793 (GRCm39)	missense	probably benign	0.14
IGL02524:Ccdc110	APN	8	46,394,979 (GRCm39)	missense	probably benign
IGL02887:Ccdc110	APN	8	46,396,221 (GRCm39)	missense	probably benign	0.01
IGL03227:Ccdc110	APN	8	46,394,586 (GRCm39)	missense	probably damaging	1.00
IGL03238:Ccdc110	APN	8	46,394,859 (GRCm39)	missense	probably benign	0.00
droll	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
humorless	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0110:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0189:Ccdc110	UTSW	8	46,388,119 (GRCm39)	missense	probably damaging	0.98
R0218:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0280:Ccdc110	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0332:Ccdc110	UTSW	8	46,396,001 (GRCm39)	nonsense	probably null
R0371:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R0469:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0502:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0510:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0534:Ccdc110	UTSW	8	46,388,175 (GRCm39)	missense	possibly damaging	0.73
R0647:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R0714:Ccdc110	UTSW	8	46,396,047 (GRCm39)	missense	possibly damaging	0.71
R0721:Ccdc110	UTSW	8	46,395,026 (GRCm39)	missense	probably benign
R1029:Ccdc110	UTSW	8	46,394,817 (GRCm39)	missense	probably damaging	0.98
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1170:Ccdc110	UTSW	8	46,394,922 (GRCm39)	missense	probably benign	0.22
R1340:Ccdc110	UTSW	8	46,395,218 (GRCm39)	missense	probably benign	0.02
R1540:Ccdc110	UTSW	8	46,395,362 (GRCm39)	nonsense	probably null
R1587:Ccdc110	UTSW	8	46,394,783 (GRCm39)	missense	probably benign	0.01
R1602:Ccdc110	UTSW	8	46,391,955 (GRCm39)	missense	probably benign	0.12
R1629:Ccdc110	UTSW	8	46,395,164 (GRCm39)	missense	probably benign	0.08
R1842:Ccdc110	UTSW	8	46,393,605 (GRCm39)	missense	probably damaging	1.00
R1933:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R1934:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R2006:Ccdc110	UTSW	8	46,396,349 (GRCm39)	missense	probably damaging	1.00
R2043:Ccdc110	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
R2093:Ccdc110	UTSW	8	46,395,114 (GRCm39)	missense	probably damaging	1.00
R2165:Ccdc110	UTSW	8	46,395,876 (GRCm39)	missense	probably benign	0.00
R3613:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R3923:Ccdc110	UTSW	8	46,395,426 (GRCm39)	missense	probably damaging	1.00
R4648:Ccdc110	UTSW	8	46,395,705 (GRCm39)	missense	possibly damaging	0.95
R4773:Ccdc110	UTSW	8	46,396,245 (GRCm39)	missense	probably damaging	1.00
R4901:Ccdc110	UTSW	8	46,396,437 (GRCm39)	missense	probably benign	0.35
R4911:Ccdc110	UTSW	8	46,395,944 (GRCm39)	missense	probably benign	0.00
R4923:Ccdc110	UTSW	8	46,396,460 (GRCm39)	missense	probably benign	0.29
R5104:Ccdc110	UTSW	8	46,395,729 (GRCm39)	missense	probably damaging	0.99
R5561:Ccdc110	UTSW	8	46,393,646 (GRCm39)	missense	probably benign	0.02
R5966:Ccdc110	UTSW	8	46,395,573 (GRCm39)	missense	probably damaging	1.00
R5976:Ccdc110	UTSW	8	46,396,536 (GRCm39)	missense	possibly damaging	0.71
R6141:Ccdc110	UTSW	8	46,394,807 (GRCm39)	missense	possibly damaging	0.89
R6326:Ccdc110	UTSW	8	46,395,078 (GRCm39)	missense	probably damaging	1.00
R6366:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R6405:Ccdc110	UTSW	8	46,394,734 (GRCm39)	nonsense	probably null
R6815:Ccdc110	UTSW	8	46,395,024 (GRCm39)	missense	probably benign	0.19
R7387:Ccdc110	UTSW	8	46,395,233 (GRCm39)	missense	probably benign	0.00
R7680:Ccdc110	UTSW	8	46,394,688 (GRCm39)	missense	possibly damaging	0.64
R8099:Ccdc110	UTSW	8	46,395,130 (GRCm39)	missense	probably damaging	1.00
R8114:Ccdc110	UTSW	8	46,396,140 (GRCm39)	missense	probably damaging	1.00
R8151:Ccdc110	UTSW	8	46,395,830 (GRCm39)	missense	probably damaging	1.00
R8295:Ccdc110	UTSW	8	46,396,416 (GRCm39)	missense	probably damaging	0.97
R8532:Ccdc110	UTSW	8	46,396,032 (GRCm39)	missense	probably damaging	1.00
R9072:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9073:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9088:Ccdc110	UTSW	8	46,394,882 (GRCm39)	missense	probably damaging	0.99
R9803:Ccdc110	UTSW	8	46,395,626 (GRCm39)	missense	probably benign
X0053:Ccdc110	UTSW	8	46,395,998 (GRCm39)	missense	possibly damaging	0.56
X0054:Ccdc110	UTSW	8	46,394,880 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACAAAGACTGCCTCAGG -3'
(R):5'- CTGTGAAGAAGCGACTCCTG -3'

Sequencing Primer
(F):5'- GACTGCCTCAGGGAACTTAAG -3'
(R):5'- AAGAAGCGACTCCTGCTCCG -3'

Posted On

2018-05-21