Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Cfap61'

652657

Institutional Source

Beutler Lab

Gene Symbol

Cfap61

Ensembl Gene

ENSMUSG00000037143

Gene Name

cilia and flagella associated protein 61

Synonyms

4930529M08Rik

MMRRC Submission

Accession Numbers

Genbank: NM_175280.3; Ensemble: ENSMUST00000133433

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145934784-146215039 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145947183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

Ref Sequence

ENSEMBL: ENSMUSP00000112099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116398] [ENSMUST00000118002] [ENSMUST00000126415] [ENSMUST00000130168] [ENSMUST00000133433] [ENSMUST00000138774] [ENSMUST00000152515]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000116398
AA Change: E94G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
AA Change: E94G

Domain	Start	End	E-Value	Type
SCOP:d1b87a_	183	237	1e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118002
AA Change: E94G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143
AA Change: E94G

Domain	Start	End	E-Value	Type
transmembrane domain	133	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126415
AA Change: E94G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: E94G

Domain	Start	End	E-Value	Type
SCOP:d1b87a_	183	244	1e-5	SMART
low complexity region	355	368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130168
AA Change: E94G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143
AA Change: E94G

Domain	Start	End	E-Value	Type
transmembrane domain	133	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133433
AA Change: E94G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: E94G

Domain	Start	End	E-Value	Type
Pfam:DUF4821	15	272	1.1e-96	PFAM
low complexity region	355	368	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
low complexity region	1172	1182	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138774
AA Change: K36E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
AA Change: K36E

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
transmembrane domain	49	71	N/A	INTRINSIC
SCOP:d1b87a_	99	153	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152515
AA Change: E94G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Cfap61

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02838:Cfap61	APN	2	145947164	nonsense	probably null
IGL03024:Cfap61	APN	2	145939999	splice site	probably benign
1mM(1):Cfap61	UTSW	2	146200760	missense	probably damaging	1.00
R0006:Cfap61	UTSW	2	146077312	missense	probably benign	0.06
R0396:Cfap61	UTSW	2	145949944	missense	possibly damaging	0.88
R0458:Cfap61	UTSW	2	146008917	missense	probably benign	0.08
R0477:Cfap61	UTSW	2	145939916	missense	probably damaging	1.00
R0513:Cfap61	UTSW	2	146035295	missense	possibly damaging	0.93
R1104:Cfap61	UTSW	2	145951061	nonsense	probably null
R1413:Cfap61	UTSW	2	145963443	missense	probably benign	0.27
R1591:Cfap61	UTSW	2	146145458	missense	probably benign	0.17
R1599:Cfap61	UTSW	2	146012163	missense	probably benign
R1661:Cfap61	UTSW	2	146035319	splice site	probably null
R1665:Cfap61	UTSW	2	146035319	splice site	probably null
R1789:Cfap61	UTSW	2	145939993	critical splice donor site	probably null
R1800:Cfap61	UTSW	2	146042622	missense	probably damaging	1.00
R2050:Cfap61	UTSW	2	146145473	missense	probably benign	0.26
R2202:Cfap61	UTSW	2	146214680	missense	probably damaging	1.00
R2220:Cfap61	UTSW	2	146036816	critical splice acceptor site	probably null
R2444:Cfap61	UTSW	2	146035319	splice site	probably null
R3779:Cfap61	UTSW	2	145950794	missense	probably damaging	1.00
R4668:Cfap61	UTSW	2	146143136	missense	probably damaging	0.99
R4705:Cfap61	UTSW	2	146035202	missense	probably damaging	1.00
R4763:Cfap61	UTSW	2	146017367	missense	probably benign	0.00
R4816:Cfap61	UTSW	2	146143100	missense	probably damaging	1.00
R5067:Cfap61	UTSW	2	146102036	missense	probably damaging	0.99
R5120:Cfap61	UTSW	2	146143160	nonsense	probably null
R5308:Cfap61	UTSW	2	146109988	missense	probably damaging	0.99
R5575:Cfap61	UTSW	2	146017393	missense	probably benign	0.31
R5834:Cfap61	UTSW	2	146129149	missense	probably benign	0.29
R5959:Cfap61	UTSW	2	145947133	missense	probably benign	0.00
R6190:Cfap61	UTSW	2	145947133	missense	probably benign	0.00
R6283:Cfap61	UTSW	2	146129102	splice site	probably null
R6786:Cfap61	UTSW	2	146045443	missense	possibly damaging	0.84
R6933:Cfap61	UTSW	2	145951050	splice site	probably null
R7071:Cfap61	UTSW	2	146001912	missense	probably benign	0.02
R7132:Cfap61	UTSW	2	146109950	missense	probably damaging	0.97
R7312:Cfap61	UTSW	2	146045470	nonsense	probably null
R7390:Cfap61	UTSW	2	146001882	missense	probably benign	0.00
R7446:Cfap61	UTSW	2	146153838	missense	probably benign	0.00
R7515:Cfap61	UTSW	2	146042725	missense	unknown
R7608:Cfap61	UTSW	2	145963531	missense	possibly damaging	0.73
R7609:Cfap61	UTSW	2	146112533	missense	unknown
R7780:Cfap61	UTSW	2	146153772	missense	possibly damaging	0.77
R7908:Cfap61	UTSW	2	146102099	missense	probably damaging	1.00
R7938:Cfap61	UTSW	2	146045456	missense	probably benign	0.09
R8054:Cfap61	UTSW	2	145973518	missense	probably damaging	1.00
R8153:Cfap61	UTSW	2	146200784	missense	probably benign	0.26
R8195:Cfap61	UTSW	2	145947175	missense	probably benign
R8224:Cfap61	UTSW	2	145939880	missense	probably benign
R8702:Cfap61	UTSW	2	146200790	missense	probably benign
R8936:Cfap61	UTSW	2	145949959	missense	possibly damaging	0.95
R9036:Cfap61	UTSW	2	146008919	missense	probably benign	0.05
R9079:Cfap61	UTSW	2	145939939	missense	probably benign	0.02
R9137:Cfap61	UTSW	2	146200765	missense	probably benign	0.01
R9184:Cfap61	UTSW	2	146077388	missense	probably null	1.00
R9423:Cfap61	UTSW	2	146143235	missense	probably damaging	1.00
R9467:Cfap61	UTSW	2	146129229	missense	probably benign
R9477:Cfap61	UTSW	2	146143112	missense	probably benign	0.01
R9646:Cfap61	UTSW	2	146012232	missense	probably damaging	1.00
R9688:Cfap61	UTSW	2	146036838	missense	probably damaging	0.98
X0022:Cfap61	UTSW	2	146129090	missense	probably benign	0.28
Z1088:Cfap61	UTSW	2	146129227	missense	probably benign	0.27
Z1177:Cfap61	UTSW	2	146012162	missense	possibly damaging	0.77
Z1177:Cfap61	UTSW	2	146153800	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAAGGAGTCGACCTGCCTTC -3'
(R):5'- TGATGAGGCCACCATGTACC -3'

Sequencing Primer
(F):5'- GGAGTCGACCTGCCTTCATCTC -3'
(R):5'- GTACACTCTGGCCTCCTGG -3'

Posted On

2020-10-20