Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Ift80'

354355

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68799832-68911903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68869623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 223 (Y223H)

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

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

AlphaFold

Q8K057

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029347
AA Change: Y223H

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: Y223H

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

possibly damaging
Transcript: ENSMUST00000107812
AA Change: Y223H

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: Y223H

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

noncoding transcript
Transcript: ENSMUST00000136448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152502

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000169064
AA Change: Y223H

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: Y223H

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

noncoding transcript
Transcript: ENSMUST00000176754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,018,248 (GRCm39)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,367,975 (GRCm39)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,033,654 (GRCm39)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,738,170 (GRCm39)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,332,252 (GRCm39)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,632,425 (GRCm39)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,093,949 (GRCm39)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,744 (GRCm39)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,835,083 (GRCm39)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,642,219 (GRCm39)		probably benign	Het
Ccnyl1	A	G	1: 64,752,290 (GRCm39)	D169G	probably benign	Het
Cdca3	T	A	6: 124,809,127 (GRCm39)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,823,111 (GRCm39)		probably null	Het
Chka	G	A	19: 3,936,375 (GRCm39)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,218,983 (GRCm39)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,360,180 (GRCm39)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,089,508 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,902,608 (GRCm39)	L889F	probably benign	Het
Dnah9	T	C	11: 65,967,184 (GRCm39)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 152,052,996 (GRCm39)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,064,018 (GRCm39)	S121A	probably damaging	Het
Ece1	G	A	4: 137,684,486 (GRCm39)	E591K	probably damaging	Het
Enthd1	G	A	15: 80,444,510 (GRCm39)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,347,524 (GRCm39)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,951,204 (GRCm39)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,691,250 (GRCm39)	T208M	probably benign	Het
Flacc1	T	C	1: 58,717,507 (GRCm39)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 52,997,552 (GRCm39)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,403,135 (GRCm39)	D319E	probably benign	Het
Gucd1	A	G	10: 75,345,494 (GRCm39)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 124,002,752 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,880,210 (GRCm39)	D502G	probably damaging	Het
Hspa2	A	G	12: 76,451,639 (GRCm39)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,882,499 (GRCm39)	S162T	probably damaging	Het
Il1rl1	A	G	1: 40,485,838 (GRCm39)	K330E	probably benign	Het
Il23r	A	T	6: 67,400,645 (GRCm39)	F562I	probably damaging	Het
Isx	T	C	8: 75,600,487 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,674,055 (GRCm39)	V606I	probably benign	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,473,274 (GRCm39)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,028,946 (GRCm39)	M188V	probably benign	Het
Kntc1	T	C	5: 123,903,086 (GRCm39)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,271 (GRCm39)		probably benign	Het
Lcor	G	C	19: 41,574,334 (GRCm39)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,289,295 (GRCm39)	L52R	probably damaging	Het
Lipk	C	A	19: 33,999,099 (GRCm39)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,495,779 (GRCm39)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,311,517 (GRCm39)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 179,669,774 (GRCm39)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,817,584 (GRCm39)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,201,001 (GRCm39)	S211P	probably damaging	Het
Mlph	A	T	1: 90,869,419 (GRCm39)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,614,091 (GRCm39)	S142P	probably damaging	Het
Nemf	A	C	12: 69,371,062 (GRCm39)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,718,515 (GRCm39)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,867,232 (GRCm39)	D122E	probably benign	Het
Noc3l	C	A	19: 38,778,066 (GRCm39)	A783S	probably benign	Het
Nol8	T	C	13: 49,816,229 (GRCm39)	V761A	probably damaging	Het
Nvl	A	G	1: 180,929,152 (GRCm39)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,702,484 (GRCm39)	I207F	probably benign	Het
Plcb1	A	G	2: 135,093,667 (GRCm39)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,625,096 (GRCm39)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Popdc3	G	A	10: 45,191,002 (GRCm39)	V38I	probably benign	Het
Prdx3	A	T	19: 60,858,551 (GRCm39)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,485,579 (GRCm39)	S469T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,497,731 (GRCm39)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,836,336 (GRCm39)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,096,889 (GRCm39)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,948,878 (GRCm39)		probably null	Het
Slc22a4	A	T	11: 53,879,719 (GRCm39)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,668,948 (GRCm39)	A495S	probably damaging	Het
Stx19	G	T	16: 62,642,682 (GRCm39)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm39)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,016,225 (GRCm39)	S746R	probably benign	Het
Tchh	G	T	3: 93,355,189 (GRCm39)	R1543L	unknown	Het
Tjp2	T	C	19: 24,078,169 (GRCm39)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,946,068 (GRCm39)	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,151,696 (GRCm39)	W709R	probably null	Het
Unc80	T	A	1: 66,549,951 (GRCm39)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,788 (GRCm39)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,026,469 (GRCm39)		probably null	Het
Vmn2r88	T	A	14: 51,650,702 (GRCm39)	D138E	probably benign	Het
Vwce	T	C	19: 10,625,831 (GRCm39)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,861,645 (GRCm39)	S695F	probably benign	Het
Zfand4	T	C	6: 116,265,122 (GRCm39)		probably null	Het
Zfp511	T	A	7: 139,617,424 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,501,565 (GRCm39)	K584E	possibly 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
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
R7452:Ift80	UTSW	3	68,901,615 (GRCm39)	splice site	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'- AGAACATTTCAAAGTGCTCGCTAG -3'
(R):5'- TTCTGAGGCCTGAGAGTTTCC -3'

Sequencing Primer
(F):5'- CATTTCAAAGTGCTCGCTAGGTGAG -3'
(R):5'- CCTGAGAGTTTCCAGGATTATTGC -3'

Posted On

2015-10-21