Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01999:Cfap161'

182147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap161

Ensembl Gene

ENSMUSG00000011154

Gene Name

cilia and flagella associated protein 161

Synonyms

1700026D08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01999

Quality Score

Status

Chromosome

Chromosomal Location

83423309-83444088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83440899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 118 (V118M)

Ref Sequence

ENSEMBL: ENSMUSP00000115281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011298] [ENSMUST00000119134] [ENSMUST00000149671]

AlphaFold

Q6P8Y0

Predicted Effect

probably damaging
Transcript: ENSMUST00000011298
AA Change: V143M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119134
AA Change: V143M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149671
AA Change: V118M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
Cabs1	C	T	5: 88,127,787 (GRCm39)	T146I	possibly damaging	Het
Cfap95	C	A	19: 23,569,529 (GRCm39)	L130F	possibly damaging	Het
Chrna7	T	C	7: 62,753,539 (GRCm39)	M327V	probably damaging	Het
Ddx18	A	G	1: 121,489,457 (GRCm39)	I228T	probably benign	Het
Dnhd1	T	A	7: 105,370,422 (GRCm39)	S4616T	possibly damaging	Het
Dsp	T	A	13: 38,365,162 (GRCm39)	M515K	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Exoc7	T	C	11: 116,191,926 (GRCm39)		probably null	Het
Gria2	G	A	3: 80,639,398 (GRCm39)	R205W	probably damaging	Het
Hacd2	T	C	16: 34,869,083 (GRCm39)		probably benign	Het
Helz	G	T	11: 107,493,754 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,202,155 (GRCm39)	N352S	probably benign	Het
Mfsd11	T	A	11: 116,752,411 (GRCm39)	F135I	probably damaging	Het
Mtmr10	A	G	7: 63,987,460 (GRCm39)	N667D	probably benign	Het
Mtmr9	A	C	14: 63,779,903 (GRCm39)	F62C	probably damaging	Het
Nelfcd	T	C	2: 174,265,308 (GRCm39)		probably benign	Het
Nfasc	A	G	1: 132,532,985 (GRCm39)		probably benign	Het
Npnt	C	T	3: 132,614,160 (GRCm39)	R150Q	probably damaging	Het
Or5b108	G	A	19: 13,168,924 (GRCm39)	A298T	probably damaging	Het
Or5p55	C	T	7: 107,566,675 (GRCm39)	R24C	probably benign	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pcdhb2	C	T	18: 37,429,890 (GRCm39)	A621V	probably damaging	Het
Pkd1l1	C	A	11: 8,786,291 (GRCm39)	W1921L	probably benign	Het
Plcb1	G	A	2: 135,188,238 (GRCm39)	R777Q	probably damaging	Het
Plch1	G	A	3: 63,660,728 (GRCm39)	P297L	probably damaging	Het
Ppp2r2b	T	C	18: 42,778,788 (GRCm39)		probably benign	Het
Ppp6r2	A	G	15: 89,154,155 (GRCm39)	D372G	probably benign	Het
Rtn4r	A	G	16: 17,969,321 (GRCm39)	R250G	possibly damaging	Het
Sec61a2	A	G	2: 5,896,174 (GRCm39)		probably benign	Het
Sema3g	G	T	14: 30,939,922 (GRCm39)	V19L	probably benign	Het
Sult2a7	T	C	7: 14,225,648 (GRCm39)	T113A	probably benign	Het
Tcp11l1	T	C	2: 104,528,914 (GRCm39)	D128G	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Vcan	A	G	13: 89,832,557 (GRCm39)	L2150P	probably damaging	Het
Vmn1r40	A	C	6: 89,691,948 (GRCm39)	N255T	probably benign	Het
Vmn2r68	T	C	7: 84,871,439 (GRCm39)	N615D	probably damaging	Het
Zdhhc25	A	G	15: 88,485,217 (GRCm39)	E184G	probably damaging	Het

Other mutations in Cfap161

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01827:Cfap161	APN	7	83,442,648 (GRCm39)	missense	possibly damaging	0.86
IGL02291:Cfap161	APN	7	83,440,847 (GRCm39)	missense	probably benign	0.01
IGL02444:Cfap161	APN	7	83,425,353 (GRCm39)	missense	probably damaging	1.00
R0492:Cfap161	UTSW	7	83,443,245 (GRCm39)	missense	possibly damaging	0.90
R0652:Cfap161	UTSW	7	83,442,484 (GRCm39)	missense	probably null	0.01
R1599:Cfap161	UTSW	7	83,425,287 (GRCm39)	missense	possibly damaging	0.84
R1828:Cfap161	UTSW	7	83,440,932 (GRCm39)	critical splice acceptor site	probably null
R2117:Cfap161	UTSW	7	83,425,184 (GRCm39)	missense	possibly damaging	0.63
R2262:Cfap161	UTSW	7	83,442,580 (GRCm39)	missense	probably benign	0.37
R3618:Cfap161	UTSW	7	83,429,390 (GRCm39)	nonsense	probably null
R4015:Cfap161	UTSW	7	83,429,479 (GRCm39)	missense	probably benign	0.01
R5821:Cfap161	UTSW	7	83,425,188 (GRCm39)	missense	probably benign	0.38
R6477:Cfap161	UTSW	7	83,443,230 (GRCm39)	nonsense	probably null
R6478:Cfap161	UTSW	7	83,442,484 (GRCm39)	missense	probably benign	0.00
R7108:Cfap161	UTSW	7	83,442,518 (GRCm39)	missense	possibly damaging	0.60
R7203:Cfap161	UTSW	7	83,425,258 (GRCm39)	missense	probably damaging	0.97
R7582:Cfap161	UTSW	7	83,426,290 (GRCm39)	missense	possibly damaging	0.69
R8714:Cfap161	UTSW	7	83,442,482 (GRCm39)	missense	probably benign	0.11
R8762:Cfap161	UTSW	7	83,443,282 (GRCm39)	missense	possibly damaging	0.92
R9587:Cfap161	UTSW	7	83,440,878 (GRCm39)	missense	probably damaging	1.00
R9665:Cfap161	UTSW	7	83,442,579 (GRCm39)	missense	probably benign	0.00
R9702:Cfap161	UTSW	7	83,442,652 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07