Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Ift81'

593845

Institutional Source

Beutler Lab

Gene Symbol

Ift81

Ensembl Gene

ENSMUSG00000029469

Gene Name

intraflagellar transport 81

Synonyms

Cdv1, CDV-1R

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122688267-122752581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122732623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 304 (M304V)

Ref Sequence

ENSEMBL: ENSMUSP00000031426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031426]

AlphaFold

O35594

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031426
AA Change: M304V

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: M304V

Domain	Start	End	E-Value	Type
PDB:4LVP\|A	5	128	2e-23	PDB
coiled coil region	167	258	N/A	INTRINSIC
coiled coil region	308	383	N/A	INTRINSIC
coiled coil region	503	591	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
App	T	A	16: 84,837,197 (GRCm39)		probably null	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,707,691 (GRCm39)	T473S	probably damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,441,998 (GRCm39)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or51a10	T	A	7: 103,699,800 (GRCm39)		probably benign	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Repin1	T	A	6: 48,574,756 (GRCm39)	S562T	probably damaging	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	Het

Other mutations in Ift81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Ift81	APN	5	122,749,031 (GRCm39)	missense	probably damaging	1.00
IGL01867:Ift81	APN	5	122,740,739 (GRCm39)	splice site	probably benign
IGL01927:Ift81	APN	5	122,731,192 (GRCm39)	missense	probably benign	0.25
IGL02954:Ift81	APN	5	122,748,248 (GRCm39)	splice site	probably benign
IGL03003:Ift81	APN	5	122,732,725 (GRCm39)	missense	probably benign	0.01
R1179:Ift81	UTSW	5	122,740,773 (GRCm39)	missense	probably benign	0.22
R1394:Ift81	UTSW	5	122,706,986 (GRCm39)	missense	probably benign	0.00
R1395:Ift81	UTSW	5	122,706,986 (GRCm39)	missense	probably benign	0.00
R1962:Ift81	UTSW	5	122,698,772 (GRCm39)	missense	probably benign	0.01
R2084:Ift81	UTSW	5	122,705,410 (GRCm39)	missense	probably benign	0.00
R4019:Ift81	UTSW	5	122,731,192 (GRCm39)	missense	probably benign	0.25
R4769:Ift81	UTSW	5	122,732,656 (GRCm39)	missense	probably benign	0.16
R4849:Ift81	UTSW	5	122,729,282 (GRCm39)	missense	probably damaging	1.00
R4905:Ift81	UTSW	5	122,729,142 (GRCm39)	critical splice donor site	probably null
R4924:Ift81	UTSW	5	122,732,679 (GRCm39)	missense	possibly damaging	0.86
R5110:Ift81	UTSW	5	122,689,121 (GRCm39)	missense	probably benign	0.02
R5299:Ift81	UTSW	5	122,745,119 (GRCm39)	missense	probably damaging	0.99
R5387:Ift81	UTSW	5	122,693,598 (GRCm39)	missense	probably damaging	1.00
R6190:Ift81	UTSW	5	122,689,163 (GRCm39)	missense	probably benign	0.00
R6241:Ift81	UTSW	5	122,740,414 (GRCm39)	missense	probably benign	0.38
R6404:Ift81	UTSW	5	122,749,069 (GRCm39)	missense	probably damaging	1.00
R6647:Ift81	UTSW	5	122,748,229 (GRCm39)	nonsense	probably null
R7155:Ift81	UTSW	5	122,707,062 (GRCm39)	missense	probably damaging	0.99
R7170:Ift81	UTSW	5	122,693,596 (GRCm39)	nonsense	probably null
R7700:Ift81	UTSW	5	122,732,623 (GRCm39)	missense	possibly damaging	0.85
R7709:Ift81	UTSW	5	122,747,394 (GRCm39)	missense	probably damaging	1.00
R7756:Ift81	UTSW	5	122,689,088 (GRCm39)	missense	probably damaging	1.00
R7758:Ift81	UTSW	5	122,689,088 (GRCm39)	missense	probably damaging	1.00
R9154:Ift81	UTSW	5	122,689,122 (GRCm39)	missense	probably benign	0.04
R9329:Ift81	UTSW	5	122,697,833 (GRCm39)	critical splice acceptor site	probably null
R9761:Ift81	UTSW	5	122,729,146 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCATCCAGTGGATTCTGAAGC -3'
(R):5'- CACAATACCTGCCCTTTTGAAC -3'

Sequencing Primer
(F):5'- CATCCAGTGGATTCTGAAGCAAAGTC -3'
(R):5'- ATACCTGCCCTTTTGAACTAAAC -3'

Posted On

2019-11-12