Mutagenetix > Incidental Mutation

Incidental Mutation 'R7756:Ift81'

597545

Institutional Source

Beutler Lab

Gene Symbol

Ift81

Ensembl Gene

ENSMUSG00000029469

Gene Name

intraflagellar transport 81

Synonyms

Cdv1, CDV-1R

MMRRC Submission

045812-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7756 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122688267-122752581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122689088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 676 (L676H)

Ref Sequence

ENSEMBL: ENSMUSP00000031426 (fasta)

Gene Model

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

AlphaFold

O35594

Predicted Effect

probably damaging
Transcript: ENSMUST00000031426
AA Change: L676H

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

SMART Domains

Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: L676H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bpnt2	A	T	4: 4,769,385 (GRCm39)	H243Q	probably damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Btbd2	T	C	10: 80,484,440 (GRCm39)	I159V	probably benign	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Cfap99	G	T	5: 34,459,952 (GRCm39)	C105F	probably damaging	Het
Clcn6	T	C	4: 148,113,896 (GRCm39)	D54G	probably damaging	Het
Dennd5a	T	C	7: 109,520,714 (GRCm39)	N381S	possibly damaging	Het
Disp1	A	C	1: 182,871,298 (GRCm39)	V374G	probably damaging	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fcer1a	A	G	1: 173,049,142 (GRCm39)	L223P	probably damaging	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
Gys1	T	C	7: 45,097,726 (GRCm39)	V491A	probably benign	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Inava	A	G	1: 136,144,171 (GRCm39)	S422P	probably benign	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Nr1h5	T	C	3: 102,856,925 (GRCm39)	I196V	probably benign	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or2a20	T	A	6: 43,193,950 (GRCm39)	Y34*	probably null	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Shcbp1	T	C	8: 4,794,545 (GRCm39)	K416R	probably damaging	Het
Slc20a2	T	G	8: 23,025,508 (GRCm39)	I70S	probably damaging	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Tnrc18	A	G	5: 142,772,907 (GRCm39)	S641P		Het
Tspan32	A	G	7: 142,570,959 (GRCm39)	N189D	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Usp40	G	T	1: 87,894,922 (GRCm39)	T866K	probably damaging	Het
Vmn1r220	G	A	13: 23,367,877 (GRCm39)	T273I	probably benign	Het
Yes1	C	T	5: 32,842,024 (GRCm39)	T516I	probably damaging	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	possibly damaging	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
R7699:Ift81	UTSW	5	122,732,623 (GRCm39)	missense	possibly damaging	0.85
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
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'- AACGAAAGCCTCTCCTGCAG -3'
(R):5'- TCCTTTGCAACATGACGACAGAAG -3'

Sequencing Primer
(F):5'- GCCTCTCCTGCAGTTAAAAAG -3'
(R):5'- TTGCAACATGACGACAGAAGTAAATC -3'

Posted On

2019-11-26