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: 0.202) question?

Stock #

R7452 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

68799832-68911903 bp(-) (GRCm39)

Type of Mutation

splice site (217 bp from exon)

DNA Base Change (assembly)

T to C at 68901615 bp (GRCm39)

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
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het

Other mutations in Ift80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ift80	APN	3	68,821,986 (GRCm39)	nonsense	probably null
IGL01020:Ift80	APN	3	68,871,012 (GRCm39)	missense	probably damaging	1.00
IGL01544:Ift80	APN	3	68,898,115 (GRCm39)	missense	probably benign	0.05
IGL01612:Ift80	APN	3	68,870,996 (GRCm39)	missense	possibly damaging	0.61
IGL01743:Ift80	APN	3	68,869,629 (GRCm39)	missense	probably benign	0.00
IGL02187:Ift80	APN	3	68,892,789 (GRCm39)	missense	probably damaging	1.00
IGL02381:Ift80	APN	3	68,869,653 (GRCm39)	splice site	probably null
IGL02407:Ift80	APN	3	68,805,869 (GRCm39)	missense	probably benign
IGL02510:Ift80	APN	3	68,805,876 (GRCm39)	missense	probably benign	0.07
IGL02512:Ift80	APN	3	68,835,058 (GRCm39)	critical splice donor site	probably null
R0091:Ift80	UTSW	3	68,822,008 (GRCm39)	missense	probably damaging	1.00
R0212:Ift80	UTSW	3	68,847,506 (GRCm39)	missense	probably benign	0.05
R0348:Ift80	UTSW	3	68,843,232 (GRCm39)	missense	probably benign
R0357:Ift80	UTSW	3	68,821,986 (GRCm39)	nonsense	probably null
R1381:Ift80	UTSW	3	68,822,116 (GRCm39)	missense	possibly damaging	0.78
R1419:Ift80	UTSW	3	68,847,531 (GRCm39)	missense	probably damaging	1.00
R1643:Ift80	UTSW	3	68,823,490 (GRCm39)	missense	probably benign	0.06
R1899:Ift80	UTSW	3	68,825,846 (GRCm39)	missense	probably benign	0.00
R1926:Ift80	UTSW	3	68,823,498 (GRCm39)	missense	probably damaging	1.00
R2013:Ift80	UTSW	3	68,898,117 (GRCm39)	missense	possibly damaging	0.62
R3894:Ift80	UTSW	3	68,825,332 (GRCm39)	missense	probably damaging	1.00
R4214:Ift80	UTSW	3	68,898,141 (GRCm39)	missense	possibly damaging	0.64
R4290:Ift80	UTSW	3	68,871,023 (GRCm39)	missense	probably damaging	0.96
R4303:Ift80	UTSW	3	68,801,507 (GRCm39)	missense	probably benign	0.15
R4361:Ift80	UTSW	3	68,870,982 (GRCm39)	missense	probably damaging	1.00
R4576:Ift80	UTSW	3	68,857,863 (GRCm39)	missense	possibly damaging	0.71
R4596:Ift80	UTSW	3	68,898,092 (GRCm39)	missense	probably benign	0.01
R4652:Ift80	UTSW	3	68,822,273 (GRCm39)	missense	probably benign	0.32
R4654:Ift80	UTSW	3	68,825,870 (GRCm39)	missense	possibly damaging	0.94
R4720:Ift80	UTSW	3	68,869,623 (GRCm39)	missense	possibly damaging	0.50
R4865:Ift80	UTSW	3	68,898,092 (GRCm39)	missense	probably benign	0.01
R4885:Ift80	UTSW	3	68,857,829 (GRCm39)	missense	probably damaging	0.98
R5357:Ift80	UTSW	3	68,898,113 (GRCm39)	missense	possibly damaging	0.62
R5561:Ift80	UTSW	3	68,875,196 (GRCm39)	missense	probably benign	0.00
R5589:Ift80	UTSW	3	68,838,233 (GRCm39)	missense	probably damaging	1.00
R5806:Ift80	UTSW	3	68,857,809 (GRCm39)	missense	probably benign	0.09
R6910:Ift80	UTSW	3	68,835,068 (GRCm39)	missense	probably benign	0.01
R6962:Ift80	UTSW	3	68,901,878 (GRCm39)	start gained	probably benign
R7157:Ift80	UTSW	3	68,898,277 (GRCm39)	nonsense	probably null
R7504:Ift80	UTSW	3	68,825,338 (GRCm39)	missense	probably damaging	0.99
R8077:Ift80	UTSW	3	68,823,478 (GRCm39)	missense	probably benign	0.01
R8435:Ift80	UTSW	3	68,892,787 (GRCm39)	missense	probably damaging	1.00
R8821:Ift80	UTSW	3	68,869,583 (GRCm39)	missense	probably damaging	0.98
R8831:Ift80	UTSW	3	68,869,583 (GRCm39)	missense	probably damaging	0.98
R8897:Ift80	UTSW	3	68,857,809 (GRCm39)	missense	probably benign
R9222:Ift80	UTSW	3	68,825,894 (GRCm39)	missense	possibly damaging	0.58
R9328:Ift80	UTSW	3	68,847,483 (GRCm39)	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