Mutagenetix > Incidental Mutations

Incidental Mutation 'R1926:Ift80'

213419

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

039944-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68892499-69004570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68916165 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 588 (Y588C)

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029347
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: Y588C

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 damaging
Transcript: ENSMUST00000107812
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: Y588C

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: ENSMUST00000136176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152502

Predicted Effect

probably damaging
Transcript: ENSMUST00000169064
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: Y588C

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: ENSMUST00000176189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217619

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,329,404	T1316I	probably benign	Het
Acsm3	C	T	7: 119,777,136	T362M	probably damaging	Het
Ang6	A	G	14: 44,002,238	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,244,169	Y1880H	probably damaging	Het
BC049730	G	A	7: 24,714,116	G186R	probably damaging	Het
Bmi1	A	G	2: 18,682,273	I55V	probably benign	Het
Bnipl	G	A	3: 95,243,043	T297M	probably damaging	Het
Bpifa2	T	C	2: 154,013,749	V198A	probably benign	Het
Brms1l	G	T	12: 55,863,161	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,650,788	V351A	probably benign	Het
Ces1c	A	G	8: 93,127,604	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,242,397	Y15H	probably benign	Het
Dglucy	A	T	12: 100,867,155	N535I	possibly damaging	Het
Dopey1	C	A	9: 86,523,019	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,473,824	M236I	probably benign	Het
Efna2	T	C	10: 80,186,876	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,864,837		probably null	Het
Eln	A	T	5: 134,706,567	Y787*	probably null	Het
Erbb2	G	C	11: 98,425,164	E364D	probably benign	Het
F5	A	G	1: 164,179,508	T294A	probably damaging	Het
Fam47e	A	G	5: 92,585,385	T194A	possibly damaging	Het
Galk1	T	C	11: 116,010,247	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,771,066	D163G	probably damaging	Het
Gmip	A	G	8: 69,815,520	E408G	probably benign	Het
Gp1ba	A	T	11: 70,640,889		probably benign	Het
Grm3	A	T	5: 9,504,881	C804S	probably damaging	Het
Gzmd	A	G	14: 56,130,280	C179R	probably damaging	Het
Hadhb	T	A	5: 30,180,937	L415Q	possibly damaging	Het
Jazf1	T	C	6: 53,068,531	T13A	probably benign	Het
Kat8	T	A	7: 127,915,295	Y67*	probably null	Het
Kcnab1	G	A	3: 65,376,512	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,202,188	Y230*	probably null	Het
Lmx1b	T	A	2: 33,564,662	M365L	probably damaging	Het
Ly6k	G	T	15: 74,797,202	P76Q	probably benign	Het
Map1b	A	T	13: 99,430,692	H1840Q	unknown	Het
Map3k2	A	G	18: 32,203,110	I117V	probably damaging	Het
Med13	C	A	11: 86,289,073	A1350S	possibly damaging	Het
Midn	T	C	10: 80,151,661	S109P	probably damaging	Het
Msh6	A	G	17: 87,986,225	T803A	probably benign	Het
Nckap1	T	C	2: 80,506,838	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,407,395	N63K	probably benign	Het
Neb	A	T	2: 52,279,635	S1811R	probably damaging	Het
Notch1	T	C	2: 26,481,657	D260G	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Oas1g	T	C	5: 120,879,142	K283R	probably benign	Het
Obscn	T	C	11: 59,063,474	T4037A	possibly damaging	Het
Olfr1414	A	G	1: 92,511,608	L140P	probably damaging	Het
Olfr449	T	G	6: 42,838,313	L144R	probably damaging	Het
Otop2	A	T	11: 115,326,955	T206S	probably benign	Het
Pamr1	A	G	2: 102,640,997		probably null	Het
Pkp1	G	A	1: 135,877,673	T675I	probably benign	Het
Plxna2	G	A	1: 194,762,450	V717I	probably benign	Het
Ptgs2	T	C	1: 150,100,228	L2P	possibly damaging	Het
Rarg	A	G	15: 102,239,545	F277S	probably damaging	Het
Rassf5	A	T	1: 131,212,339	I161N	probably damaging	Het
Rxfp4	A	G	3: 88,652,352	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,740,677	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,150,235	I275V	probably benign	Het
Slc2a12	T	C	10: 22,665,242	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,348,303	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,575,704	V77E	probably damaging	Het
Sp8	G	A	12: 118,849,229	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,763,057	N475K	probably benign	Het
St18	A	G	1: 6,802,689	H216R	probably benign	Het
Tcirg1	C	T	19: 3,902,843		probably benign	Het
Tmeff1	A	G	4: 48,658,788	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,792,900	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,881,162	R955L	probably damaging	Het
Trip12	A	G	1: 84,749,291	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,769,375	L263S	probably damaging	Het
Tubb6	G	A	18: 67,401,321		probably null	Het
Ube3a	T	C	7: 59,276,379	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,582,745	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,809,041	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,020,635	N741K	probably benign	Het
Yeats2	A	G	16: 20,214,426	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,997,795	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,395,427	Y424*	probably null	Het
Zfp729a	A	G	13: 67,619,557	V851A	probably benign	Het
Zkscan1	G	T	5: 138,101,363	A450S	probably benign	Het
Zkscan3	A	G	13: 21,396,446	V24A	possibly damaging	Het

Other mutations in Ift80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ift80	APN	3	68914653	nonsense	probably null
IGL01020:Ift80	APN	3	68963679	missense	probably damaging	1.00
IGL01544:Ift80	APN	3	68990782	missense	probably benign	0.05
IGL01612:Ift80	APN	3	68963663	missense	possibly damaging	0.61
IGL01743:Ift80	APN	3	68962296	missense	probably benign	0.00
IGL02187:Ift80	APN	3	68985456	missense	probably damaging	1.00
IGL02381:Ift80	APN	3	68962320	unclassified	probably null
IGL02407:Ift80	APN	3	68898536	missense	probably benign
IGL02510:Ift80	APN	3	68898543	missense	probably benign	0.07
IGL02512:Ift80	APN	3	68927725	critical splice donor site	probably null
R0091:Ift80	UTSW	3	68914675	missense	probably damaging	1.00
R0212:Ift80	UTSW	3	68940173	missense	probably benign	0.05
R0348:Ift80	UTSW	3	68935899	missense	probably benign
R0357:Ift80	UTSW	3	68914653	nonsense	probably null
R1381:Ift80	UTSW	3	68914783	missense	possibly damaging	0.78
R1419:Ift80	UTSW	3	68940198	missense	probably damaging	1.00
R1643:Ift80	UTSW	3	68916157	missense	probably benign	0.06
R1899:Ift80	UTSW	3	68918513	missense	probably benign	0.00
R2013:Ift80	UTSW	3	68990784	missense	possibly damaging	0.62
R3894:Ift80	UTSW	3	68917999	missense	probably damaging	1.00
R4214:Ift80	UTSW	3	68990808	missense	possibly damaging	0.64
R4290:Ift80	UTSW	3	68963690	missense	probably damaging	0.96
R4303:Ift80	UTSW	3	68894174	missense	probably benign	0.15
R4361:Ift80	UTSW	3	68963649	missense	probably damaging	1.00
R4576:Ift80	UTSW	3	68950530	missense	possibly damaging	0.71
R4596:Ift80	UTSW	3	68990759	missense	probably benign	0.01
R4652:Ift80	UTSW	3	68914940	missense	probably benign	0.32
R4654:Ift80	UTSW	3	68918537	missense	possibly damaging	0.94
R4720:Ift80	UTSW	3	68962290	missense	possibly damaging	0.50
R4865:Ift80	UTSW	3	68990759	missense	probably benign	0.01
R4885:Ift80	UTSW	3	68950496	missense	probably damaging	0.98
R5357:Ift80	UTSW	3	68990780	missense	possibly damaging	0.62
R5561:Ift80	UTSW	3	68967863	missense	probably benign	0.00
R5589:Ift80	UTSW	3	68930900	missense	probably damaging	1.00
R5806:Ift80	UTSW	3	68950476	missense	probably benign	0.09
R6910:Ift80	UTSW	3	68927735	missense	probably benign	0.01
R6962:Ift80	UTSW	3	68994545	start gained	probably benign
R7157:Ift80	UTSW	3	68990944	nonsense	probably null
R7504:Ift80	UTSW	3	68918005	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGTCCTGCTCACAATCGTC -3'
(R):5'- TCAGATGCCTGTAGGGGAAC -3'

Sequencing Primer
(F):5'- ACAATCGTCTTAACCCTTACGTGG -3'
(R):5'- AGTGTAGTTTGCTTCAAGTGTACATC -3'

Posted On

2014-07-14