Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Ccdc71'

6137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc71

Ensembl Gene

ENSMUSG00000049305

Gene Name

coiled-coil domain containing 71

Synonyms

2600016J21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

108337726-108343137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108340237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 17 (S17T)

Ref Sequence

ENSEMBL: ENSMUSP00000142230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061209] [ENSMUST00000193170] [ENSMUST00000193269] [ENSMUST00000193286] [ENSMUST00000193895]

AlphaFold

Q8VEG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061209
AA Change: S17T

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

SMART Domains

Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: S17T

Domain	Start	End	E-Value	Type
Pfam:CCDC71L	8	430	4.7e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192210

Predicted Effect

probably damaging
Transcript: ENSMUST00000193170
AA Change: S17T

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

SMART Domains

Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: S17T

Domain	Start	End	E-Value	Type
Pfam:CCDC71L	8	430	3.1e-151	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193269
AA Change: S17T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305
AA Change: S17T

Domain	Start	End	E-Value	Type
Pfam:CCDC71L	8	93	5.3e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193286

SMART Domains

Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	2.08e-6	SMART
Kelch	80	127	1.9e-1	SMART
Kelch	128	174	1.76e-4	SMART
Kelch	176	222	3.74e-8	SMART
Kelch	239	281	8.33e0	SMART
Kelch	282	329	3.83e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195869

Predicted Effect

probably benign
Transcript: ENSMUST00000193895

SMART Domains

Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	2.08e-6	SMART
Kelch	80	127	1.9e-1	SMART
Kelch	128	174	1.76e-4	SMART
Kelch	176	222	3.74e-8	SMART
Kelch	239	281	8.33e0	SMART
Kelch	282	329	3.83e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	T	G	1: 125,324,966 (GRCm39)	I319L	probably benign	Het
Akap7	C	T	10: 25,047,138 (GRCm39)	D20N	probably benign	Het
Ambra1	T	A	2: 91,741,934 (GRCm39)	S1070T	probably benign	Het
Arhgef9	T	C	X: 94,125,237 (GRCm39)		probably null	Het
Ascc3	T	G	10: 50,590,531 (GRCm39)	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179 (GRCm39)	E312D	probably damaging	Het
Bpifc	A	C	10: 85,796,392 (GRCm39)	V472G	possibly damaging	Het
Cebpzos	T	C	17: 79,225,777 (GRCm39)		probably benign	Het
Cfi	T	C	3: 129,666,744 (GRCm39)	I489T	probably damaging	Het
Chrm2	T	A	6: 36,500,326 (GRCm39)	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,237,863 (GRCm39)	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,172,720 (GRCm39)	I246T	probably benign	Het
Ereg	C	A	5: 91,222,638 (GRCm39)	S7Y	probably benign	Het
Ghsr	T	A	3: 27,429,022 (GRCm39)	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,518,274 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,864,475 (GRCm38)	L29H	probably benign	Het
Hexim2	A	G	11: 103,029,281 (GRCm39)	E111G	probably damaging	Het
Itga1	A	T	13: 115,128,899 (GRCm39)	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,718,627 (GRCm39)	D1102G	probably benign	Het
Kif27	A	T	13: 58,485,418 (GRCm39)	M514K	probably benign	Het
Matn2	T	C	15: 34,428,616 (GRCm39)	I660T	probably damaging	Het
Mki67	C	A	7: 135,309,549 (GRCm39)	G301*	probably null	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or1l4b	T	C	2: 37,037,079 (GRCm39)	F285S	probably damaging	Het
Or5b121	A	C	19: 13,507,214 (GRCm39)	Y103S	probably damaging	Het
Or5b99	A	G	19: 12,976,683 (GRCm39)	Y111C	probably damaging	Het
Pcdhb8	A	T	18: 37,488,526 (GRCm39)	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,354,425 (GRCm39)	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,959,259 (GRCm39)		probably benign	Het
Rdh14	G	T	12: 10,441,134 (GRCm39)	G99W	probably damaging	Het
Rmc1	T	C	18: 12,312,276 (GRCm39)	V172A	probably benign	Het
Sra1	A	T	18: 36,801,792 (GRCm39)	S99R	probably benign	Het
Tbrg1	G	T	9: 37,562,337 (GRCm39)	N280K	probably benign	Het
Ugt8a	A	G	3: 125,708,285 (GRCm39)		probably null	Het
Usp40	A	T	1: 87,931,960 (GRCm39)		probably benign	Het
Vmn1r45	T	A	6: 89,910,646 (GRCm39)	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,979,559 (GRCm39)	Y285H	probably benign	Het

Other mutations in Ccdc71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Ccdc71	APN	9	108,341,354 (GRCm39)	missense	probably damaging	1.00
R0158:Ccdc71	UTSW	9	108,341,336 (GRCm39)	missense	probably benign	0.01
R1328:Ccdc71	UTSW	9	108,340,148 (GRCm39)	unclassified	probably benign
R1415:Ccdc71	UTSW	9	108,340,407 (GRCm39)	nonsense	probably null
R4721:Ccdc71	UTSW	9	108,340,622 (GRCm39)	missense	possibly damaging	0.61
R5144:Ccdc71	UTSW	9	108,341,051 (GRCm39)	missense	probably benign
R6379:Ccdc71	UTSW	9	108,340,811 (GRCm39)	missense	possibly damaging	0.82
R7406:Ccdc71	UTSW	9	108,340,523 (GRCm39)	nonsense	probably null
R8097:Ccdc71	UTSW	9	108,340,751 (GRCm39)	missense	probably benign
R9577:Ccdc71	UTSW	9	108,340,472 (GRCm39)	missense	possibly damaging	0.77

Posted On

2012-04-20