Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Ccdc107'

282446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc107

Ensembl Gene

ENSMUSG00000028461

Gene Name

coiled-coil domain containing 107

Synonyms

1110032O22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

43493365-43495921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43495736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 213 (D213G)

Ref Sequence

ENSEMBL: ENSMUSP00000103555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]

AlphaFold

Q9DCC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030181
AA Change: D188G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: D188G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054538

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
RhoGEF	26	196	4.92e-31	SMART
PH	228	333	5.71e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107922
AA Change: D213G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: D213G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226420

Predicted Effect

probably benign
Transcript: ENSMUST00000136005

SMART Domains

Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	53	153	2.5e-18	PFAM
PH	154	256	1.97e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152134

SMART Domains

Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Blast:PH	2	82	7e-38	BLAST
SCOP:d1kz7a2	2	88	4e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Ccdc107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Ccdc107	APN	4	43,493,453 (GRCm39)	nonsense	probably null
IGL01469:Ccdc107	APN	4	43,495,751 (GRCm39)	missense	probably benign	0.37
IGL02884:Ccdc107	APN	4	43,495,228 (GRCm39)	nonsense	probably null
R0028:Ccdc107	UTSW	4	43,495,549 (GRCm39)	missense	probably benign
R2027:Ccdc107	UTSW	4	43,495,874 (GRCm39)	missense	probably benign	0.35
R5435:Ccdc107	UTSW	4	43,493,519 (GRCm39)	missense	probably damaging	0.99
R5546:Ccdc107	UTSW	4	43,495,685 (GRCm39)	missense	probably damaging	0.97
R7419:Ccdc107	UTSW	4	43,493,512 (GRCm39)	missense	probably benign	0.27
R8010:Ccdc107	UTSW	4	43,495,768 (GRCm39)	nonsense	probably null
R8795:Ccdc107	UTSW	4	43,495,514 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16