Mutagenetix > Incidental Mutation

Incidental Mutation 'R9702:Cfap161'

729621

Institutional Source

Beutler Lab

Gene Symbol

Cfap161

Ensembl Gene

ENSMUSG00000011154

Gene Name

cilia and flagella associated protein 161

Synonyms

1700026D08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9702 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83423309-83444088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83442652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 54 (M54L)

Ref Sequence

ENSEMBL: ENSMUSP00000011298 (fasta)

Gene Model

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

AlphaFold

Q6P8Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000011298
AA Change: M54L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000119134
AA Change: M54L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000149671
AA Change: M29L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,107,378 (GRCm39)	Y746H	probably damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,202 (GRCm39)	R493H	possibly damaging	Het
Apob	G	T	12: 8,057,559 (GRCm39)	A2014S	probably damaging	Het
Bdnf	A	T	2: 109,554,117 (GRCm39)	M164L	possibly damaging	Het
Ccdc187	C	T	2: 26,172,222 (GRCm39)	V287M	unknown	Het
Cd164	G	A	10: 41,404,818 (GRCm39)	R192Q	probably damaging	Het
Cd84	T	C	1: 171,700,498 (GRCm39)	V205A	probably benign	Het
Crim1	T	A	17: 78,681,516 (GRCm39)	V990E	probably damaging	Het
Dsc1	A	G	18: 20,227,685 (GRCm39)	F518L	probably benign	Het
Esyt1	G	A	10: 128,356,607 (GRCm39)	S346L	probably damaging	Het
Fbxo30	G	T	10: 11,166,382 (GRCm39)	C368F	probably benign	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Gfra4	T	A	2: 130,884,539 (GRCm39)	S22C	probably benign	Het
Gm11992	T	G	11: 9,006,568 (GRCm39)	V166G	probably benign	Het
Gp1bb	A	T	16: 18,439,884 (GRCm39)	L70Q	probably damaging	Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kynu	T	A	2: 43,479,469 (GRCm39)	M121K	probably damaging	Het
Ldb3	A	G	14: 34,299,090 (GRCm39)	V178A	probably benign	Het
Lrrc31	A	G	3: 30,735,226 (GRCm39)	L350P	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrps23	C	T	11: 88,100,998 (GRCm39)	T121M	probably damaging	Het
Nlrp4c	T	A	7: 6,068,801 (GRCm39)	V234E	probably benign	Het
Or51f1e	T	C	7: 102,747,343 (GRCm39)	Y132H	probably damaging	Het
Pign	A	T	1: 105,485,212 (GRCm39)	D782E	probably damaging	Het
Rab11b	C	A	17: 33,968,026 (GRCm39)	R82L	possibly damaging	Het
Sema3c	T	C	5: 17,858,828 (GRCm39)	S76P	probably damaging	Het
Slc28a2b	T	A	2: 122,354,012 (GRCm39)	I546N	probably damaging	Het
Sobp	T	C	10: 42,897,944 (GRCm39)	N547S	probably benign	Het
Tigd3	G	A	19: 5,942,836 (GRCm39)	T98M	probably damaging	Het
Tox	T	G	4: 6,697,418 (GRCm39)	M462L	probably benign	Het
Vmn1r158	T	A	7: 22,490,065 (GRCm39)	Q48L	probably benign	Het
Vps8	A	G	16: 21,462,883 (GRCm39)	T1383A	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp108	C	T	7: 23,960,195 (GRCm39)	T262I	probably benign	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
IGL01999:Cfap161	APN	7	83,440,899 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGAAGGTGTTCCTGCCCATC -3'
(R):5'- TCCAACAGCTTCGCATGATC -3'

Sequencing Primer
(F):5'- ATGGTCTGCACAGCACTC -3'
(R):5'- AACAGCTTCGCATGATCTTGTTTG -3'

Posted On

2022-10-06