Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Cfap410'

285590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap410

Ensembl Gene

ENSMUSG00000020284

Gene Name

cilia and flagella associated protein 410

Synonyms

1810043G02Rik, D10Jhu13e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

77814364-77821272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77818784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 152 (N152D)

Ref Sequence

ENSEMBL: ENSMUSP00000101037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000105397] [ENSMUST00000105398]

AlphaFold

Q8C6G1

Predicted Effect

probably benign
Transcript: ENSMUST00000020522

SMART Domains

Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277

Domain	Start	End	E-Value	Type
Pfam:PFK	17	324	4.7e-109	PFAM
Pfam:PFK	401	686	1.9e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105397
AA Change: N152D

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

SMART Domains

Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284
AA Change: N152D

Domain	Start	End	E-Value	Type
LRRcap	104	122	3.42e-2	SMART
low complexity region	178	191	N/A	INTRINSIC
low complexity region	210	227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105398
AA Change: N152D

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284
AA Change: N152D

Domain	Start	End	E-Value	Type
LRRcap	104	122	3.42e-2	SMART
low complexity region	178	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149074

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	Het

Other mutations in Cfap410

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Cfap410	APN	10	77,820,388 (GRCm39)	intron	probably benign
IGL02671:Cfap410	APN	10	77,816,384 (GRCm39)	splice site	probably benign
R0145:Cfap410	UTSW	10	77,819,390 (GRCm39)	missense	probably benign	0.04
R0347:Cfap410	UTSW	10	77,820,256 (GRCm39)	missense	probably damaging	0.96
R0568:Cfap410	UTSW	10	77,820,381 (GRCm39)	makesense	probably null
R0568:Cfap410	UTSW	10	77,818,872 (GRCm39)	missense	possibly damaging	0.48
R1778:Cfap410	UTSW	10	77,818,778 (GRCm39)	missense	probably benign	0.00
R2279:Cfap410	UTSW	10	77,817,476 (GRCm39)	missense	probably damaging	1.00
R2939:Cfap410	UTSW	10	77,817,507 (GRCm39)	missense	probably benign	0.00
R4656:Cfap410	UTSW	10	77,817,450 (GRCm39)	missense	probably benign	0.01
R4866:Cfap410	UTSW	10	77,817,413 (GRCm39)	splice site	probably null
R6539:Cfap410	UTSW	10	77,820,322 (GRCm39)	missense	probably benign	0.07
R7016:Cfap410	UTSW	10	77,818,790 (GRCm39)	missense	probably benign
R7950:Cfap410	UTSW	10	77,815,601 (GRCm39)	missense	probably damaging	1.00
R8168:Cfap410	UTSW	10	77,818,778 (GRCm39)	missense	probably benign

Posted On

2015-04-16