Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Ift80'

605533

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R7452 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

68892499-69004570 bp(-) (GRCm38)

Type of Mutation

splice site (217 bp from exon)

DNA Base Change (assembly)

T to C at 68994282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029347] [ENSMUST00000107812] [ENSMUST00000148031] [ENSMUST00000154741] [ENSMUST00000169064]

AlphaFold

Q8K057

Predicted Effect

probably null
Transcript: ENSMUST00000029347

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778

Domain	Start	End	E-Value	Type
WD40	4	41	1.43e0	SMART
Blast:WD40	46	93	4e-9	BLAST
WD40	95	134	9.38e-5	SMART
WD40	136	176	2.75e1	SMART
WD40	177	216	1.42e-4	SMART
WD40	219	256	1.56e-1	SMART
WD40	258	297	2.75e1	SMART
low complexity region	429	440	N/A	INTRINSIC
Blast:WD40	496	533	4e-18	BLAST
low complexity region	764	772	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107812

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778

Domain	Start	End	E-Value	Type
WD40	4	41	1.43e0	SMART
Blast:WD40	46	93	4e-9	BLAST
WD40	95	134	9.38e-5	SMART
WD40	136	176	2.75e1	SMART
WD40	177	216	1.42e-4	SMART
WD40	219	256	1.56e-1	SMART
WD40	258	297	2.75e1	SMART
low complexity region	429	440	N/A	INTRINSIC
Blast:WD40	496	533	4e-18	BLAST
low complexity region	764	772	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148031

SMART Domains

Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778

Domain	Start	End	E-Value	Type
WD40	4	41	1.43e0	SMART
Blast:WD40	46	93	3e-10	BLAST
WD40	95	134	9.38e-5	SMART
Blast:WD40	136	159	1e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000154741

SMART Domains

Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778

Domain	Start	End	E-Value	Type
WD40	4	41	1.43e0	SMART
Blast:WD40	46	93	9e-10	BLAST
WD40	95	134	9.38e-5	SMART
WD40	136	176	2.75e1	SMART
WD40	177	209	2.12e2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169064

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778

Domain	Start	End	E-Value	Type
WD40	4	41	1.43e0	SMART
Blast:WD40	46	93	4e-9	BLAST
WD40	95	134	9.38e-5	SMART
WD40	136	176	2.75e1	SMART
WD40	177	216	1.42e-4	SMART
WD40	219	256	1.56e-1	SMART
WD40	258	297	2.75e1	SMART
low complexity region	429	440	N/A	INTRINSIC
Blast:WD40	496	533	4e-18	BLAST
low complexity region	764	772	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in Ift80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ift80	APN	3	68,914,653 (GRCm38)	nonsense	probably null
IGL01020:Ift80	APN	3	68,963,679 (GRCm38)	missense	probably damaging	1.00
IGL01544:Ift80	APN	3	68,990,782 (GRCm38)	missense	probably benign	0.05
IGL01612:Ift80	APN	3	68,963,663 (GRCm38)	missense	possibly damaging	0.61
IGL01743:Ift80	APN	3	68,962,296 (GRCm38)	missense	probably benign	0.00
IGL02187:Ift80	APN	3	68,985,456 (GRCm38)	missense	probably damaging	1.00
IGL02381:Ift80	APN	3	68,962,320 (GRCm38)	splice site	probably null
IGL02407:Ift80	APN	3	68,898,536 (GRCm38)	missense	probably benign
IGL02510:Ift80	APN	3	68,898,543 (GRCm38)	missense	probably benign	0.07
IGL02512:Ift80	APN	3	68,927,725 (GRCm38)	critical splice donor site	probably null
R0091:Ift80	UTSW	3	68,914,675 (GRCm38)	missense	probably damaging	1.00
R0212:Ift80	UTSW	3	68,940,173 (GRCm38)	missense	probably benign	0.05
R0348:Ift80	UTSW	3	68,935,899 (GRCm38)	missense	probably benign
R0357:Ift80	UTSW	3	68,914,653 (GRCm38)	nonsense	probably null
R1381:Ift80	UTSW	3	68,914,783 (GRCm38)	missense	possibly damaging	0.78
R1419:Ift80	UTSW	3	68,940,198 (GRCm38)	missense	probably damaging	1.00
R1643:Ift80	UTSW	3	68,916,157 (GRCm38)	missense	probably benign	0.06
R1899:Ift80	UTSW	3	68,918,513 (GRCm38)	missense	probably benign	0.00
R1926:Ift80	UTSW	3	68,916,165 (GRCm38)	missense	probably damaging	1.00
R2013:Ift80	UTSW	3	68,990,784 (GRCm38)	missense	possibly damaging	0.62
R3894:Ift80	UTSW	3	68,917,999 (GRCm38)	missense	probably damaging	1.00
R4214:Ift80	UTSW	3	68,990,808 (GRCm38)	missense	possibly damaging	0.64
R4290:Ift80	UTSW	3	68,963,690 (GRCm38)	missense	probably damaging	0.96
R4303:Ift80	UTSW	3	68,894,174 (GRCm38)	missense	probably benign	0.15
R4361:Ift80	UTSW	3	68,963,649 (GRCm38)	missense	probably damaging	1.00
R4576:Ift80	UTSW	3	68,950,530 (GRCm38)	missense	possibly damaging	0.71
R4596:Ift80	UTSW	3	68,990,759 (GRCm38)	missense	probably benign	0.01
R4652:Ift80	UTSW	3	68,914,940 (GRCm38)	missense	probably benign	0.32
R4654:Ift80	UTSW	3	68,918,537 (GRCm38)	missense	possibly damaging	0.94
R4720:Ift80	UTSW	3	68,962,290 (GRCm38)	missense	possibly damaging	0.50
R4865:Ift80	UTSW	3	68,990,759 (GRCm38)	missense	probably benign	0.01
R4885:Ift80	UTSW	3	68,950,496 (GRCm38)	missense	probably damaging	0.98
R5357:Ift80	UTSW	3	68,990,780 (GRCm38)	missense	possibly damaging	0.62
R5561:Ift80	UTSW	3	68,967,863 (GRCm38)	missense	probably benign	0.00
R5589:Ift80	UTSW	3	68,930,900 (GRCm38)	missense	probably damaging	1.00
R5806:Ift80	UTSW	3	68,950,476 (GRCm38)	missense	probably benign	0.09
R6910:Ift80	UTSW	3	68,927,735 (GRCm38)	missense	probably benign	0.01
R6962:Ift80	UTSW	3	68,994,545 (GRCm38)	start gained	probably benign
R7157:Ift80	UTSW	3	68,990,944 (GRCm38)	nonsense	probably null
R7504:Ift80	UTSW	3	68,918,005 (GRCm38)	missense	probably damaging	0.99
R8077:Ift80	UTSW	3	68,916,145 (GRCm38)	missense	probably benign	0.01
R8435:Ift80	UTSW	3	68,985,454 (GRCm38)	missense	probably damaging	1.00
R8821:Ift80	UTSW	3	68,962,250 (GRCm38)	missense	probably damaging	0.98
R8831:Ift80	UTSW	3	68,962,250 (GRCm38)	missense	probably damaging	0.98
R8897:Ift80	UTSW	3	68,950,476 (GRCm38)	missense	probably benign
R9222:Ift80	UTSW	3	68,918,561 (GRCm38)	missense	possibly damaging	0.58
R9328:Ift80	UTSW	3	68,940,150 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAATGATTGCTGCCTTCC -3'
(R):5'- GGCCATACCGTCAAGTTCTC -3'

Sequencing Primer
(F):5'- TGAACTCAGAAGTCTGCCTG -3'
(R):5'- GCCATACCGTCAAGTTCTCTTCTG -3'

Posted On

2019-12-11