Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Ccdc51'

688576

Institutional Source

Beutler Lab

Gene Symbol

Ccdc51

Ensembl Gene

ENSMUSG00000025645

Gene Name

coiled-coil domain containing 51

Synonyms

Mitok, 5730568A12Rik

MMRRC Submission

068880-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108911561-108921557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108918482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 24 (T24S)

Ref Sequence

ENSEMBL: ENSMUSP00000026735 (fasta)

Gene Model

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

AlphaFold

Q3URS9

Predicted Effect

probably benign
Transcript: ENSMUST00000026735
AA Change: T24S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026735
Gene: ENSMUSG00000025645
AA Change: T24S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,395,594 (GRCm39)	D641E	probably benign	Het
Anln	A	G	9: 22,272,116 (GRCm39)		probably null	Het
Areg	A	T	5: 91,292,217 (GRCm39)	E172D	probably damaging	Het
Cckar	A	T	5: 53,860,424 (GRCm39)	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,313,821 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,235,551 (GRCm39)	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,664,562 (GRCm39)	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,919,249 (GRCm39)	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,853,253 (GRCm39)	I406F	probably benign	Het
Eml4	T	A	17: 83,734,640 (GRCm39)		probably benign	Het
Fkrp	G	T	7: 16,544,569 (GRCm39)	T431K	probably damaging	Het
Fsip2	A	T	2: 82,806,180 (GRCm39)	Y833F	possibly damaging	Het
Galnt2	T	C	8: 125,058,837 (GRCm39)		probably null	Het
Gm8180	T	A	14: 44,019,806 (GRCm39)		probably null	Het
Hcn1	T	C	13: 118,108,171 (GRCm39)	S552P	unknown	Het
Ifit1	A	C	19: 34,625,887 (GRCm39)	E341A	possibly damaging	Het
Iyd	A	G	10: 3,490,250 (GRCm39)		probably benign	Het
Krt72	A	T	15: 101,694,836 (GRCm39)	S20T	probably damaging	Het
Lemd2	G	T	17: 27,423,069 (GRCm39)	D108E	probably benign	Het
Lipn	A	T	19: 34,054,376 (GRCm39)	I205F	possibly damaging	Het
Nat1	G	T	8: 67,943,723 (GRCm39)	R36L	probably benign	Het
Nebl	A	T	2: 17,415,907 (GRCm39)	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,214,351 (GRCm39)	N502I	probably damaging	Het
Nrp1	G	A	8: 129,214,389 (GRCm39)	V626I	probably benign	Het
Oprm1	G	A	10: 6,773,914 (GRCm39)		probably benign	Het
Or52w1	A	G	7: 105,017,680 (GRCm39)	Y49C	probably damaging	Het
Or8a1b	C	T	9: 37,623,204 (GRCm39)	V124M	probably damaging	Het
Pde2a	A	G	7: 101,156,927 (GRCm39)	Y637C	probably damaging	Het
Pde4d	T	C	13: 110,071,924 (GRCm39)	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,269,498 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,947,017 (GRCm39)	D810V	probably damaging	Het
Pkd1l3	A	T	8: 110,392,304 (GRCm39)	H1966L	probably benign	Het
Pmfbp1	C	T	8: 110,247,661 (GRCm39)	T319I	possibly damaging	Het
Pramel28	T	C	4: 143,692,314 (GRCm39)	Q229R	probably benign	Het
Prb1c	G	C	6: 132,338,856 (GRCm39)	Q121E	unknown	Het
Psg18	T	A	7: 18,087,450 (GRCm39)	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638 (GRCm38)	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,290,984 (GRCm39)	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,293,542 (GRCm39)	T105A	probably benign	Het
Rbm12	A	T	2: 155,937,481 (GRCm39)	D930E	unknown	Het
Rlf	A	C	4: 121,007,784 (GRCm39)	S509A	possibly damaging	Het
Slc39a3	C	A	10: 80,869,499 (GRCm39)	G53C	probably damaging	Het
Smchd1	G	A	17: 71,670,017 (GRCm39)	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,247,715 (GRCm39)	E52A	unknown	Het
Stat1	A	G	1: 52,182,086 (GRCm39)	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,592,923 (GRCm39)	E64G	probably benign	Het
Ttll11	A	T	2: 35,869,392 (GRCm39)	V82D	probably benign	Het
Ttn	T	A	2: 76,570,977 (GRCm39)	T26639S	probably damaging	Het
Usp53	A	T	3: 122,727,725 (GRCm39)	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,567,724 (GRCm39)	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,537 (GRCm39)	D166N	probably damaging	Het
Zfp954	C	A	7: 7,119,097 (GRCm39)	C149F	probably benign	Het

Other mutations in Ccdc51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Ccdc51	APN	9	108,921,252 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Ccdc51	UTSW	9	108,921,294 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc51	UTSW	9	108,921,216 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGCCTGGCCTTCCTCTTG -3'
(R):5'- CCCGAACTTCATTGAGTCCCAC -3'

Sequencing Primer
(F):5'- CTCTTGCTACAGGGGCAGAAATC -3'
(R):5'- GAGTCCCACAAACTCTTCATATCTG -3'

Posted On

2021-11-19