Mutagenetix > Incidental Mutation

Incidental Mutation 'R8831:Ift80'

673810

Institutional Source

Beutler Lab

Gene Symbol

Ift80

Ensembl Gene

ENSMUSG00000027778

Gene Name

intraflagellar transport 80

Synonyms

4921524P20Rik, Wdr56

MMRRC Submission

068659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R8831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68799832-68911903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68869583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 236 (A236V)

Ref Sequence

ENSEMBL: ENSMUSP00000133263 (fasta)

Gene Model

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

AlphaFold

Q8K057

Predicted Effect

probably damaging
Transcript: ENSMUST00000029347
AA Change: A236V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: A236V

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: A236V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: A236V

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: 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 damaging
Transcript: ENSMUST00000169064
AA Change: A236V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: A236V

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Abcg5	G	T	17: 84,976,423 (GRCm39)	H471Q	probably damaging	Het
Actl6b	G	A	5: 137,565,305 (GRCm39)	R363Q	probably damaging	Het
Adcy1	T	A	11: 7,111,362 (GRCm39)	D884E	probably benign	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,748,521 (GRCm39)	L14P	probably benign	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Cd300c2	A	T	11: 114,891,844 (GRCm39)	C39*	probably null	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cplane1	T	C	15: 8,211,620 (GRCm39)	I320T	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Defb25	C	A	2: 152,464,899 (GRCm39)	V17L	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dhx30	A	G	9: 109,917,319 (GRCm39)	S399P	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Ercc6	T	A	14: 32,282,784 (GRCm39)		probably null	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fgf10	A	G	13: 118,925,671 (GRCm39)	D150G	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gfra2	A	T	14: 71,204,503 (GRCm39)	N324I	probably benign	Het
Gm10308	A	G	17: 91,396,431 (GRCm39)	R118G	unknown	Het
Gm10801	T	A	2: 98,494,334 (GRCm39)	V137E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Il6st	G	T	13: 112,640,914 (GRCm39)	D897Y	probably damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Kidins220	A	T	12: 25,086,454 (GRCm39)	I963L	possibly damaging	Het
Mdm4	T	C	1: 132,931,601 (GRCm39)	R148G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Necab3	A	T	2: 154,396,607 (GRCm39)	L107Q	probably damaging	Het
Nkx2-4	G	A	2: 146,927,114 (GRCm39)	P51L	probably benign	Het
Nol11	T	C	11: 107,067,662 (GRCm39)	T388A	probably benign	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Nr1h3	C	A	2: 91,021,091 (GRCm39)	R232L	probably benign	Het
Nrcam	T	A	12: 44,591,680 (GRCm39)		probably null	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or52s1b	T	A	7: 102,822,203 (GRCm39)	I214L	probably benign	Het
Pabpn1	T	C	14: 55,131,914 (GRCm39)	V101A	probably damaging	Het
Pcare	A	T	17: 72,059,305 (GRCm39)	V124E	probably benign	Het
Pcbp2	A	G	15: 102,394,453 (GRCm39)	D217G	probably benign	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Plcg1	G	C	2: 160,589,732 (GRCm39)	K85N	probably benign	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Prmt3	A	G	7: 49,478,729 (GRCm39)	E430G	probably null	Het
Prx	G	T	7: 27,217,538 (GRCm39)	V819F	probably damaging	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rgs2	T	C	1: 143,877,497 (GRCm39)	Y186C	probably damaging	Het
Rhbdl1	C	T	17: 26,053,857 (GRCm39)	V342M	probably damaging	Het
Rpn1	A	G	6: 88,061,775 (GRCm39)	Q88R	probably benign	Het
Slc19a2	C	T	1: 164,084,443 (GRCm39)	T111M	probably damaging	Het
Slc35e4	G	A	11: 3,863,087 (GRCm39)	P34L	possibly damaging	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Susd1	C	T	4: 59,379,594 (GRCm39)		probably benign	Het
Tcf19	A	T	17: 35,825,794 (GRCm39)	M121K	possibly damaging	Het
Tcp11	G	A	17: 28,299,193 (GRCm39)	R21C	probably damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem127	T	A	2: 127,098,979 (GRCm39)	V171D	probably damaging	Het
Tyrp1	G	A	4: 80,753,399 (GRCm39)	C30Y	probably damaging	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vamp4	T	A	1: 162,401,952 (GRCm39)	D11E	possibly damaging	Het
Vmn1r14	T	C	6: 57,210,505 (GRCm39)	F28L	probably benign	Het
Vmn2r69	G	T	7: 85,059,018 (GRCm39)	C514*	probably null	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zhx3	T	A	2: 160,622,691 (GRCm39)	Y492F	probably benign	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
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
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'- CACCGCTTCATCTCACAAATTAGG -3'
(R):5'- GGTAACGTCTGGTTGCTAATTC -3'

Sequencing Primer
(F):5'- CGCTTCATCTCACAAATTAGGAACTG -3'
(R):5'- AACGTCTGGTTGCTAATTCTATATGG -3'

Posted On

2021-07-15