Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Ift80'

374809

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

042475-MU

Accession Numbers

Essential gene?

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

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68799832-68911903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68898092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 81 (V81A)

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

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

AlphaFold

Q8K057

Predicted Effect

probably benign
Transcript: ENSMUST00000029347
AA Change: V81A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: V81A

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: V81A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: V81A

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

probably benign
Transcript: ENSMUST00000148031
AA Change: V81A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778
AA Change: V81A

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

noncoding transcript
Transcript: ENSMUST00000152502

Predicted Effect

probably benign
Transcript: ENSMUST00000154741
AA Change: V81A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778
AA Change: V81A

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 benign
Transcript: ENSMUST00000169064
AA Change: V81A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: V81A

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: ENSMUST00000176135

Meta Mutation Damage Score

0.0881

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aldh5a1	A	G	13: 25,095,567 (GRCm39)	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Cyp4f13	C	T	17: 33,144,678 (GRCm39)	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Skil	A	G	3: 31,167,562 (GRCm39)	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Upk2	A	G	9: 44,365,382 (GRCm39)	V62A	probably damaging	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	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
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'- CCACGAATTTCACAATATTCCCA -3'
(R):5'- AGCTGTGTGGGTTGGACTAC -3'

Sequencing Primer
(F):5'- GAATCAAATCTTAAAGAAACAGTGGG -3'
(R):5'- TTGGACTACGGCGGAGG -3'

Posted On

2016-03-17