Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02558:Ccdc51'

298382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc51

Ensembl Gene

ENSMUSG00000025645

Gene Name

coiled-coil domain containing 51

Synonyms

Mitok, 5730568A12Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

IGL02558

Quality Score

Status

Chromosome

Chromosomal Location

108911561-108921557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108921252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 380 (N380Y)

Ref Sequence

ENSEMBL: ENSMUSP00000026735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026735] [ENSMUST00000072093] [ENSMUST00000130366] [ENSMUST00000131462]

AlphaFold

Q3URS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026735
AA Change: N380Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026735
Gene: ENSMUSG00000025645
AA Change: N380Y

Domain	Start	End	E-Value	Type
coiled coil region	109	162	N/A	INTRINSIC
low complexity region	224	236	N/A	INTRINSIC
low complexity region	274	286	N/A	INTRINSIC
transmembrane domain	381	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072093

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	35	463	5.84e-101	SMART
PSI	481	534	1.17e-13	SMART
PSI	628	678	6.97e-3	SMART
low complexity region	691	706	N/A	INTRINSIC
low complexity region	752	771	N/A	INTRINSIC
PSI	1019	1066	2.06e-5	SMART
IPT	1067	1158	7.48e-18	SMART
IPT	1159	1247	3.97e-22	SMART
IPT	1249	1359	6.09e-9	SMART
low complexity region	1483	1494	N/A	INTRINSIC
Pfam:Plexin_cytopl	1546	2086	6.5e-230	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130366

SMART Domains

Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sema	35	138	7.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131462

SMART Domains

Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sema	35	138	7.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134690

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	C	5: 3,632,194 (GRCm39)	*25C	probably null	Het
Abca13	T	C	11: 9,349,387 (GRCm39)	Y3654H	probably damaging	Het
Ankle1	T	C	8: 71,861,636 (GRCm39)	F438S	probably damaging	Het
Atp10a	A	T	7: 58,469,390 (GRCm39)	R1080S	probably damaging	Het
Ccr8	A	T	9: 119,923,724 (GRCm39)	I280F	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep162	T	C	9: 87,107,786 (GRCm39)	T535A	probably benign	Het
Cep162	G	T	9: 87,107,779 (GRCm39)	T537N	probably benign	Het
Cfap52	T	C	11: 67,844,964 (GRCm39)	D35G	probably benign	Het
Cmip	G	A	8: 118,175,827 (GRCm39)	S530N	probably damaging	Het
Col9a3	A	T	2: 180,248,599 (GRCm39)		probably null	Het
Csf3r	T	C	4: 125,931,928 (GRCm39)		probably benign	Het
Csk	C	T	9: 57,537,546 (GRCm39)	E123K	probably benign	Het
Csrnp3	G	A	2: 65,852,573 (GRCm39)	E322K	probably damaging	Het
Ddx11	A	T	17: 66,455,667 (GRCm39)	I663F	probably damaging	Het
Dnah1	T	A	14: 30,996,336 (GRCm39)	M2667L	possibly damaging	Het
Foxred1	T	C	9: 35,121,429 (GRCm39)	K40E	probably damaging	Het
Gata2	C	T	6: 88,176,762 (GRCm39)	P74S	probably benign	Het
Gdf10	T	G	14: 33,645,937 (GRCm39)	C29G	probably benign	Het
Hectd4	A	G	5: 121,482,848 (GRCm39)	E3133G	probably benign	Het
Ints8	G	A	4: 11,218,771 (GRCm39)	R784W	probably damaging	Het
Lrriq1	T	C	10: 102,982,144 (GRCm39)	E1392G	probably damaging	Het
Muc19	T	C	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myom2	A	T	8: 15,164,237 (GRCm39)	D1044V	probably benign	Het
Nphp4	G	T	4: 152,639,988 (GRCm39)	R958L	probably damaging	Het
Nup205	C	T	6: 35,166,859 (GRCm39)	P293S	probably damaging	Het
Or10ag60	T	C	2: 87,437,903 (GRCm39)	I57T	probably benign	Het
Or1e17	A	T	11: 73,831,651 (GRCm39)	H193L	probably benign	Het
Plxdc2	A	G	2: 16,674,409 (GRCm39)		probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Siglec1	G	T	2: 130,916,915 (GRCm39)	S1113R	possibly damaging	Het
Sirpa	A	G	2: 129,471,989 (GRCm39)	E472G	probably damaging	Het
Slc39a4	G	T	15: 76,498,403 (GRCm39)	L345M	probably damaging	Het
Snx27	C	T	3: 94,410,188 (GRCm39)	R496Q	probably damaging	Het
Stard9	A	G	2: 120,527,388 (GRCm39)	H1215R	possibly damaging	Het
Stau1	A	G	2: 166,792,768 (GRCm39)	Y371H	probably benign	Het
Sult2a1	A	C	7: 13,566,520 (GRCm39)	W152G	probably benign	Het
Syt16	A	T	12: 74,281,832 (GRCm39)	K319*	probably null	Het
Tcf7	T	A	11: 52,144,797 (GRCm39)		probably benign	Het
Tfdp1	A	G	8: 13,419,546 (GRCm39)	N92D	possibly damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Ccdc51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02615:Ccdc51	APN	9	108,918,503 (GRCm39)	missense	probably benign
IGL02806:Ccdc51	APN	9	108,921,316 (GRCm39)	missense	probably benign	0.00
R0100:Ccdc51	UTSW	9	108,921,066 (GRCm39)	nonsense	probably null
R0137:Ccdc51	UTSW	9	108,920,698 (GRCm39)	missense	probably damaging	1.00
R0211:Ccdc51	UTSW	9	108,918,441 (GRCm39)	missense	probably benign	0.01
R0211:Ccdc51	UTSW	9	108,918,441 (GRCm39)	missense	probably benign	0.01
R4540:Ccdc51	UTSW	9	108,921,288 (GRCm39)	missense	possibly damaging	0.50
R4669:Ccdc51	UTSW	9	108,920,030 (GRCm39)	missense	probably benign	0.00
R4770:Ccdc51	UTSW	9	108,919,978 (GRCm39)	missense	probably benign
R5364:Ccdc51	UTSW	9	108,921,188 (GRCm39)	missense	possibly damaging	0.82
R6137:Ccdc51	UTSW	9	108,918,483 (GRCm39)	missense	probably benign	0.21
R7146:Ccdc51	UTSW	9	108,920,848 (GRCm39)	missense	probably damaging	1.00
R7831:Ccdc51	UTSW	9	108,921,058 (GRCm39)	missense	probably damaging	1.00
R7886:Ccdc51	UTSW	9	108,920,655 (GRCm39)	missense	probably damaging	1.00
R9054:Ccdc51	UTSW	9	108,918,482 (GRCm39)	missense	probably benign
Z1176:Ccdc51	UTSW	9	108,921,294 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc51	UTSW	9	108,921,216 (GRCm39)	nonsense	probably null

Posted On

2015-04-16