Mutagenetix > Incidental Mutation

Incidental Mutation 'R5144:Ccdc71'

395054

Institutional Source

Beutler Lab

Gene Symbol

Ccdc71

Ensembl Gene

ENSMUSG00000049305

Gene Name

coiled-coil domain containing 71

Synonyms

2600016J21Rik

MMRRC Submission

042728-MU

Accession Numbers

Essential gene?

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

Stock #

R5144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108337726-108343137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108341051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 288 (V288A)

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: V288A

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

SMART Domains

Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: V288A

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: V288A

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

SMART Domains

Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: V288A

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,604 (GRCm39)		probably benign	Het
Arpc2	A	T	1: 74,287,367 (GRCm39)	K62N	probably damaging	Het
B4galt5	C	T	2: 167,148,516 (GRCm39)	E201K	possibly damaging	Het
Bub1b	C	T	2: 118,445,980 (GRCm39)	T334M	possibly damaging	Het
Cep350	G	A	1: 155,786,896 (GRCm39)	R1444W	probably damaging	Het
Chrna4	A	G	2: 180,666,623 (GRCm39)	L605P	probably damaging	Het
Col6a5	T	A	9: 105,766,482 (GRCm39)	I1813F	probably damaging	Het
Col9a1	A	G	1: 24,278,434 (GRCm39)	I821V	probably benign	Het
D430041D05Rik	T	C	2: 104,088,847 (GRCm39)	D43G	probably damaging	Het
Depdc7	T	C	2: 104,560,598 (GRCm39)	Y132C	probably damaging	Het
Dppa2	T	C	16: 48,137,666 (GRCm39)	V216A	probably damaging	Het
Ect2l	A	T	10: 18,020,325 (GRCm39)	N598K	probably benign	Het
Eif3c	T	C	7: 126,162,238 (GRCm39)	T195A	probably benign	Het
Epg5	T	C	18: 78,058,895 (GRCm39)	V1883A	probably damaging	Het
Ino80c	T	A	18: 24,241,935 (GRCm39)	D150V	probably benign	Het
Kcnb1	T	A	2: 166,947,864 (GRCm39)	Y328F	probably damaging	Het
Kcnj3	G	A	2: 55,337,059 (GRCm39)		probably null	Het
Ncor1	T	G	11: 62,240,290 (GRCm39)	S894R	probably damaging	Het
Nlgn3	G	A	X: 100,361,891 (GRCm39)	V287I	probably benign	Het
Nod2	T	C	8: 89,379,694 (GRCm39)	V72A	probably damaging	Het
Nudt19	T	C	7: 35,254,650 (GRCm39)	T194A	probably benign	Het
Or1j4	A	T	2: 36,740,156 (GRCm39)	T33S	probably benign	Het
Or8b53	C	T	9: 38,667,689 (GRCm39)	S235L	possibly damaging	Het
Pappa2	T	A	1: 158,784,703 (GRCm39)	R102S	probably benign	Het
Pik3c2a	T	C	7: 115,950,021 (GRCm39)	N1332S	probably benign	Het
Plppr1	T	A	4: 49,319,800 (GRCm39)	V142E	possibly damaging	Het
Prdm6	C	A	18: 53,598,110 (GRCm39)		probably benign	Het
Prm2	T	A	16: 10,609,732 (GRCm39)		probably benign	Het
Prmt3	T	C	7: 49,435,883 (GRCm39)	S155P	possibly damaging	Het
Rars2	T	C	4: 34,656,793 (GRCm39)	Y481H	probably benign	Het
Rgs2	G	A	1: 143,877,437 (GRCm39)	T206M	probably benign	Het
Slc2a8	C	T	2: 32,871,785 (GRCm39)	R56H	probably damaging	Het
Spmip11	C	A	15: 98,483,148 (GRCm39)		probably null	Het
Stk35	T	A	2: 129,652,855 (GRCm39)	M452K	probably damaging	Het
Tcf3	G	A	10: 80,251,071 (GRCm39)	H454Y	probably damaging	Het
Tgm3	C	T	2: 129,890,202 (GRCm39)	S655F	possibly damaging	Het
Tssc4	T	G	7: 142,623,770 (GRCm39)	L26R	probably damaging	Het
Utp11	A	T	4: 124,572,695 (GRCm39)		probably benign	Het
Vmn1r237	C	G	17: 21,534,688 (GRCm39)	A137G	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps8	T	C	16: 21,378,103 (GRCm39)	L1038P	probably damaging	Het
Wipf3	C	T	6: 54,462,660 (GRCm39)	A290V	probably damaging	Het
Zdhhc25	T	G	15: 88,485,259 (GRCm39)	L198R	probably damaging	Het
Zdhhc6	A	T	19: 55,302,998 (GRCm39)	M1K	probably null	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
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
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'- TCTGACTAGCAAAGGCCCTG -3'
(R):5'- CACCGTGCTCTCTTCTTAGGAG -3'

Sequencing Primer
(F):5'- TGGGGCTGGTCTCCGAC -3'
(R):5'- GCTCTCTTCTTAGGAGGAAGACC -3'

Posted On

2016-06-21