Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Cfap410'

291143

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 #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

77814364-77821272 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 77820388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284

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

probably benign
Transcript: ENSMUST00000105398

SMART Domains

Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284

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: ENSMUST00000149074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136275

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	Het

Other mutations in Cfap410

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Cfap410	APN	10	77,818,784 (GRCm39)	missense	possibly damaging	0.62
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