Mutagenetix > Incidental Mutation

Incidental Mutation 'R8532:Ccdc110'

659109

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

068502-MU

Accession Numbers

Essential gene?

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

Stock #

R8532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46396032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 641 (L641P)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

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

AlphaFold

Q3V125

Predicted Effect

probably damaging
Transcript: ENSMUST00000095326
AA Change: L641P

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

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: L641P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	A	2: 69,090,035 (GRCm39)	V950L	possibly damaging	Het
Acsl6	T	A	11: 54,218,001 (GRCm39)	V238E	probably damaging	Het
Adam2	C	A	14: 66,293,970 (GRCm39)	A286S	probably damaging	Het
Ankrd17	A	T	5: 90,412,679 (GRCm39)	I1215N	probably damaging	Het
Anxa2	T	C	9: 69,374,594 (GRCm39)	Y24H	probably benign	Het
Brms1l	T	C	12: 55,891,264 (GRCm39)	L106P	probably damaging	Het
Cacna1e	A	T	1: 154,341,510 (GRCm39)	L1166Q	probably damaging	Het
Cep78	T	A	19: 15,936,948 (GRCm39)	D586V	possibly damaging	Het
Chek1	T	C	9: 36,630,988 (GRCm39)	D142G	probably benign	Het
Dennd1b	A	G	1: 139,097,912 (GRCm39)		probably benign	Het
Eif2b5	T	C	16: 20,323,956 (GRCm39)	V433A	probably damaging	Het
Enpep	A	T	3: 129,070,302 (GRCm39)	Y868*	probably null	Het
Fam149a	T	A	8: 45,801,991 (GRCm39)	T414S	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm3604	A	T	13: 62,516,769 (GRCm39)	C530S	possibly damaging	Het
Gtf2e2	T	C	8: 34,248,633 (GRCm39)	F140S	probably damaging	Het
Ighv1-63	T	C	12: 115,459,270 (GRCm39)	D109G	probably damaging	Het
Igkv3-9	G	C	6: 70,565,706 (GRCm39)	V102L	possibly damaging	Het
Kif12	G	A	4: 63,087,656 (GRCm39)	Q276*	probably null	Het
Lrba	C	T	3: 86,664,790 (GRCm39)	R557C	probably damaging	Het
Matn2	C	A	15: 34,316,699 (GRCm39)	Q14K	probably benign	Het
Mical2	C	A	7: 111,917,751 (GRCm39)	F369L	probably damaging	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or52e8b	T	C	7: 104,673,773 (GRCm39)	Y138C	probably damaging	Het
Or9m2	A	G	2: 87,820,913 (GRCm39)	T153A	probably damaging	Het
Pramel1	A	G	4: 143,125,125 (GRCm39)	T350A	probably benign	Het
Rcbtb1	T	A	14: 59,447,973 (GRCm39)	C72*	probably null	Het
Ros1	T	G	10: 51,974,852 (GRCm39)	T1578P	possibly damaging	Het
Rps6kb2	A	T	19: 4,209,243 (GRCm39)	I200N	probably damaging	Het
Slc17a4	C	A	13: 24,088,718 (GRCm39)	W223L	probably damaging	Het
Slitrk5	A	T	14: 111,916,909 (GRCm39)	M178L	probably benign	Het
Snrpa	A	G	7: 26,891,027 (GRCm39)		probably null	Het
Syt10	C	T	15: 89,676,889 (GRCm39)	E366K	probably damaging	Het
Tbc1d16	A	G	11: 119,045,993 (GRCm39)	F484L	probably benign	Het
Tbc1d30	A	T	10: 121,103,335 (GRCm39)	W566R	probably damaging	Het
Tcaf1	A	T	6: 42,655,065 (GRCm39)	I551K	probably damaging	Het
Tdrd7	A	G	4: 46,016,920 (GRCm39)	T654A	probably damaging	Het
Timm44	A	T	8: 4,310,549 (GRCm39)	I401N	possibly damaging	Het
Xcl1	T	A	1: 164,759,515 (GRCm39)	T62S	probably damaging	Het
Zbtb11	A	T	16: 55,811,252 (GRCm39)	H470L	probably benign	Het
Zfp57	A	G	17: 37,320,793 (GRCm39)	T213A	possibly damaging	Het
Zfp715	A	C	7: 42,948,829 (GRCm39)	I377S	possibly damaging	Het
Zfp715	A	T	7: 42,949,134 (GRCm39)	D275E	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
R6482:Ccdc110	UTSW	8	46,395,825 (GRCm39)	missense	probably benign	0.00
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
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'- AGTCCCAAAGTGACATGGCC -3'
(R):5'- AGATGCTTGTCTCCGACTTTG -3'

Sequencing Primer
(F):5'- AAAGTGACATGGCCGTCCTC -3'
(R):5'- GCACTCTTGATTTCTTTCAGGAAC -3'

Posted On

2021-01-18