Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Ift81'

366325

Institutional Source

Beutler Lab

Gene Symbol

Ift81

Ensembl Gene

ENSMUSG00000029469

Gene Name

intraflagellar transport 81

Synonyms

Cdv1, CDV-1R

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122688267-122752581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122732656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 293 (H293N)

Ref Sequence

ENSEMBL: ENSMUSP00000031426 (fasta)

Gene Model

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

AlphaFold

O35594

Predicted Effect

probably benign
Transcript: ENSMUST00000031426
AA Change: H293N

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: H293N

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

unknown
Transcript: ENSMUST00000139590
AA Change: H137N

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,382,174 (GRCm39)	S1264A	probably benign	Het
Adamts13	T	G	2: 26,898,723 (GRCm39)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,362,331 (GRCm39)	D389E	probably damaging	Het
Alx3	T	C	3: 107,508,007 (GRCm39)	F172S	probably damaging	Het
Antxrl	A	G	14: 33,795,027 (GRCm39)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,298,307 (GRCm39)	D1091G	probably null	Het
Btbd1	T	A	7: 81,455,558 (GRCm39)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,088,399 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,912 (GRCm39)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,077,790 (GRCm39)	T16I	probably benign	Het
Clp1	T	C	2: 84,556,219 (GRCm39)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,337,444 (GRCm39)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,758,837 (GRCm39)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,823,543 (GRCm39)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,403,051 (GRCm39)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,368,571 (GRCm39)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,868,411 (GRCm39)		probably null	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Il6	T	G	5: 30,223,076 (GRCm39)	L114*	probably null	Het
Ism2	A	T	12: 87,346,355 (GRCm39)	M42K	probably benign	Het
Lhx5	A	G	5: 120,574,503 (GRCm39)	E269G	probably benign	Het
Marveld1	T	G	19: 42,136,434 (GRCm39)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,692,641 (GRCm39)	S911P	probably damaging	Het
Mier1	G	A	4: 102,997,417 (GRCm39)	R195H	probably benign	Het
Muc2	T	A	7: 141,286,260 (GRCm39)		probably null	Het
Mybbp1a	A	G	11: 72,336,466 (GRCm39)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,162,708 (GRCm39)	L179R	probably damaging	Het
Nos1	C	T	5: 118,081,310 (GRCm39)	Q1171*	probably null	Het
Nrg1	T	A	8: 32,408,000 (GRCm39)	I78F	probably damaging	Het
Or5d36	T	G	2: 87,901,073 (GRCm39)	T218P	probably benign	Het
Or6y1	T	G	1: 174,276,524 (GRCm39)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,953,664 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,477,325 (GRCm39)	H339R	probably damaging	Het
Pold1	C	T	7: 44,184,495 (GRCm39)	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,927,852 (GRCm39)	I868V	probably benign	Het
Prss54	C	A	8: 96,286,003 (GRCm39)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,855,727 (GRCm39)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,123,667 (GRCm39)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,545,262 (GRCm39)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,325,429 (GRCm39)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 82,997,062 (GRCm39)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Trim45	C	A	3: 100,839,050 (GRCm39)		probably benign	Het
Umodl1	G	T	17: 31,202,976 (GRCm39)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,597 (GRCm39)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,886,447 (GRCm39)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,679,344 (GRCm39)	I50F	probably benign	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
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
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'- TATCAACCCTTAGCCCAGGC -3'
(R):5'- CTGTATAGATGCTGCACAGAGAGC -3'

Sequencing Primer
(F):5'- CAGGCTAGCTCTAGAGTCACAAG -3'
(R):5'- TGCTGCACAGAGAGCTTTAAC -3'

Posted On

2015-12-21