Mutagenetix > Incidental Mutation

Incidental Mutation 'R7115:Ccdc103'

551738

Institutional Source

Beutler Lab

Gene Symbol

Ccdc103

Ensembl Gene

ENSMUSG00000020930

Gene Name

coiled-coil domain containing 103

Synonyms

1700039D13Rik

MMRRC Submission

045206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102772050-102776042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102774636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 95 (S95C)

Ref Sequence

ENSEMBL: ENSMUSP00000125214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000100369] [ENSMUST00000107060] [ENSMUST00000159834]

AlphaFold

Q9D9P2

Predicted Effect

probably benign
Transcript: ENSMUST00000021306

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
Pfam:EFTUD2	3	110	1.1e-42	PFAM
Pfam:GTP_EFTU	127	440	9.6e-47	PFAM
Pfam:GTP_EFTU_D2	489	566	3.8e-15	PFAM
Pfam:EFG_II	584	656	9.9e-11	PFAM
EFG_IV	703	824	1.1e-16	SMART
EFG_C	826	915	1.14e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021307

SMART Domains

Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

Domain	Start	End	E-Value	Type
Pfam:Dynein_attach_N	7	74	3.3e-32	PFAM
Pfam:RPAP3_C	98	188	1.2e-19	PFAM
low complexity region	219	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067444

SMART Domains

Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

Domain	Start	End	E-Value	Type
Pfam:Filament_head	2	64	1.7e-8	PFAM
Filament	65	373	2.34e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100369

SMART Domains

Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	39	142	3.73e0	SMART
IG_like	275	361	1.61e1	SMART
transmembrane domain	377	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107060

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	32	50	N/A	INTRINSIC
Pfam:GTP_EFTU	126	439	9.6e-44	PFAM
Pfam:Miro	130	260	2.5e-6	PFAM
Pfam:GTP_EFTU_D2	488	565	7.9e-13	PFAM
Pfam:EFG_II	583	655	8.2e-10	PFAM
EFG_IV	702	823	1.1e-16	SMART
EFG_C	825	914	1.14e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159834
AA Change: S95C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930
AA Change: S95C

Domain	Start	End	E-Value	Type
coiled coil region	8	33	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,255,589 (GRCm39)	I636N	probably benign	Het
Adam5	A	G	8: 25,271,712 (GRCm39)	I565T	possibly damaging	Het
Amd2	C	A	10: 35,587,633 (GRCm39)		probably benign	Het
Ap5m1	T	A	14: 49,323,727 (GRCm39)	Y472*	probably null	Het
Apcdd1	T	C	18: 63,070,024 (GRCm39)	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,208,446 (GRCm39)	K267R		Het
Carf	G	T	1: 60,187,309 (GRCm39)	L637F	probably damaging	Het
Cfap20	T	C	8: 96,147,874 (GRCm39)	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,929,664 (GRCm39)	C96R	probably benign	Het
Cspg4b	T	G	13: 113,457,310 (GRCm39)	S1119A		Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dennd2a	G	A	6: 39,483,645 (GRCm39)	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,493,961 (GRCm39)	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,547,710 (GRCm39)	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,220,306 (GRCm39)	G275D		Het
Elf3	T	G	1: 135,184,856 (GRCm39)	D110A	probably damaging	Het
Eomes	A	G	9: 118,313,557 (GRCm39)	N534S	probably benign	Het
Fry	A	T	5: 150,309,532 (GRCm39)	R659W	probably damaging	Het
Gm10428	G	A	11: 62,644,206 (GRCm39)	C94Y	unknown	Het
Gm2696	T	A	10: 77,672,133 (GRCm39)	C111S	unknown	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Lrp1b	T	A	2: 40,888,247 (GRCm39)	N2338Y		Het
Map2k1	A	G	9: 64,119,888 (GRCm39)	I139T	probably damaging	Het
Or10n7-ps1	T	C	9: 39,598,003 (GRCm39)	Y79C	probably benign	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Pxylp1	G	A	9: 96,707,063 (GRCm39)	T373I	probably benign	Het
Ranbp9	T	C	13: 43,560,147 (GRCm39)	N484S	probably benign	Het
Rassf5	A	G	1: 131,108,986 (GRCm39)	V293A	probably benign	Het
Ring1	A	G	17: 34,242,420 (GRCm39)	I29T	probably damaging	Het
Scn1a	G	A	2: 66,154,962 (GRCm39)	Q666*	probably null	Het
Spice1	G	A	16: 44,199,638 (GRCm39)	G697R	probably benign	Het
Tas2r131	A	G	6: 132,934,567 (GRCm39)	F81L	probably benign	Het
Tenm2	G	A	11: 36,054,644 (GRCm39)	S572L	probably damaging	Het
Tfr2	A	G	5: 137,569,977 (GRCm39)	T128A	probably benign	Het
Trim56	T	A	5: 137,142,514 (GRCm39)	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,370,527 (GRCm39)	R840*	probably null	Het

Other mutations in Ccdc103

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1909:Ccdc103	UTSW	11	102,773,392 (GRCm39)	missense	probably benign	0.20
R4073:Ccdc103	UTSW	11	102,774,925 (GRCm39)	missense	probably damaging	1.00
R5000:Ccdc103	UTSW	11	102,774,932 (GRCm39)	missense	probably benign	0.00
R5729:Ccdc103	UTSW	11	102,773,904 (GRCm39)	missense	probably damaging	1.00
R6552:Ccdc103	UTSW	11	102,774,970 (GRCm39)	missense	probably benign	0.01
R6774:Ccdc103	UTSW	11	102,773,519 (GRCm39)	missense	probably damaging	1.00
R9149:Ccdc103	UTSW	11	102,774,922 (GRCm39)	missense	probably benign	0.03
X0026:Ccdc103	UTSW	11	102,773,408 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AACCTTCAGATCCTAGCCTGG -3'
(R):5'- TAGCCAGGCTGTGCAGAATC -3'

Sequencing Primer
(F):5'- CAGATCCTAGCCTGGATTTCTTTGG -3'
(R):5'- TGTGCAGAATCCCCAGCACTG -3'

Posted On

2019-05-15