Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Ccdc71'

22985

Institutional Source

Beutler Lab

Gene Symbol

Ccdc71

Ensembl Gene

ENSMUSG00000049305

Gene Name

coiled-coil domain containing 71

Synonyms

2600016J21Rik

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0158 (G1)

Quality Score

220

Status

Validated (trace)

Chromosome

Chromosomal Location

108337726-108343137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108341336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 383 (V383G)

Ref Sequence

ENSEMBL: ENSMUSP00000142230 (fasta)

Gene Model

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

AlphaFold

Q8VEG0

Predicted Effect

probably benign
Transcript: ENSMUST00000061209
AA Change: V383G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: V383G

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 benign
Transcript: ENSMUST00000193170
AA Change: V383G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: V383G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193269

SMART Domains

Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305

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: ENSMUST00000195869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193618

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	probably benign	Het

Other mutations in Ccdc71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ccdc71	APN	9	108,340,237 (GRCm39)	missense	probably damaging	1.00
IGL00428:Ccdc71	APN	9	108,341,354 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGTGGCTCAAACCCAGACCAAG -3'
(R):5'- ACAGCTCCGCTGTTTTCCCAAG -3'

Sequencing Primer
(F):5'- CAAAGCCAAGGCCGCTG -3'
(R):5'- TTCCCAAGTACTGCTGCAAGG -3'

Posted On

2013-04-16