Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Ift80'

448486

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

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

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68799832-68911903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68857809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 279 (I279F)

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

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

AlphaFold

Q8K057

Predicted Effect

probably benign
Transcript: ENSMUST00000029347
AA Change: I279F

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: I279F

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 benign
Transcript: ENSMUST00000107812
AA Change: I279F

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: I279F

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: ENSMUST00000169064
AA Change: I279F

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: I279F

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	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
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'- TGTCTAGTGCAAAGCAGCAG -3'
(R):5'- CCATTGACTTCACTGCAAAACATG -3'

Sequencing Primer
(F):5'- CAGATTTACTGGACTCTGGAACACG -3'
(R):5'- TGCCCACGAAATACATTCCTTC -3'

Posted On

2016-12-15