Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02876:Ift52'

406227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift52

Ensembl Gene

ENSMUSG00000017858

Gene Name

intraflagellar transport 52

Synonyms

NGD5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02876

Quality Score

Status

Chromosome

Chromosomal Location

162859274-162888061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162878627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000018002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018002]

AlphaFold

Q62559

Predicted Effect

probably benign
Transcript: ENSMUST00000018002
AA Change: V307A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: V307A

Domain	Start	End	E-Value	Type
Pfam:ABC_transp_aux	1	116	1.8e-13	PFAM
low complexity region	340	359	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	A	G	4: 144,282,343 (GRCm39)	Y150H	probably damaging	Het
Abcb5	A	G	12: 118,883,576 (GRCm39)	V564A	probably damaging	Het
Adamts15	A	T	9: 30,815,818 (GRCm39)	N679K	probably damaging	Het
Angpt1	T	G	15: 42,290,373 (GRCm39)	D497A	possibly damaging	Het
Asap2	A	G	12: 21,308,164 (GRCm39)	K849R	probably benign	Het
Aspm	T	C	1: 139,401,391 (GRCm39)	V1137A	probably damaging	Het
Atp12a	A	G	14: 56,610,746 (GRCm39)	I297V	probably benign	Het
Atp2a2	A	G	5: 122,604,071 (GRCm39)	V454A	probably benign	Het
Carmil1	T	A	13: 24,338,651 (GRCm39)		probably benign	Het
Csmd2	A	T	4: 128,215,128 (GRCm39)	K517*	probably null	Het
Csmd3	A	T	15: 47,469,492 (GRCm39)		probably benign	Het
Cyp2d11	T	A	15: 82,273,697 (GRCm39)	Q427L	possibly damaging	Het
Eml5	C	T	12: 98,825,100 (GRCm39)	V706M	probably damaging	Het
Entpd8	A	C	2: 24,975,072 (GRCm39)	S428R	probably benign	Het
Gm10283	T	C	8: 60,954,253 (GRCm39)		probably benign	Het
Gpatch3	T	A	4: 133,307,995 (GRCm39)	V363E	probably damaging	Het
Hoxb5	T	A	11: 96,194,594 (GRCm39)	M52K	probably damaging	Het
Igkv1-115	T	C	6: 68,138,424 (GRCm39)		noncoding transcript	Het
Kdm5a	T	C	6: 120,367,605 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,057,687 (GRCm39)		probably null	Het
Lrp6	G	A	6: 134,433,077 (GRCm39)	P1418L	probably benign	Het
Mill2	T	C	7: 18,590,432 (GRCm39)	F156L	probably damaging	Het
Mnat1	A	G	12: 73,217,378 (GRCm39)	R85G	probably damaging	Het
Myrip	A	T	9: 120,261,740 (GRCm39)	D451V	probably damaging	Het
Or1e1f	A	T	11: 73,855,539 (GRCm39)	Y35F	possibly damaging	Het
Pdzph1	C	A	17: 59,281,064 (GRCm39)	S406I	probably benign	Het
Ptprb	A	G	10: 116,184,116 (GRCm39)		probably benign	Het
Rxfp4	T	A	3: 88,559,742 (GRCm39)	R236S	possibly damaging	Het
Ryr2	T	C	13: 11,722,679 (GRCm39)	M2604V	probably benign	Het
Setd1a	G	A	7: 127,377,673 (GRCm39)		probably benign	Het
Spata33	A	T	8: 123,948,719 (GRCm39)	H88L	probably damaging	Het
Spcs3	A	T	8: 54,979,486 (GRCm39)	N98K	probably damaging	Het
Srgap3	A	G	6: 112,748,414 (GRCm39)	S413P	probably damaging	Het
Stap2	T	C	17: 56,306,961 (GRCm39)	R239G	probably benign	Het
Surf6	A	G	2: 26,782,638 (GRCm39)	Y230H	probably damaging	Het
Tasp1	C	T	2: 139,676,283 (GRCm39)	V382M	probably benign	Het
Tnc	G	T	4: 63,933,338 (GRCm39)	A642E	possibly damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn2r110	T	A	17: 20,794,558 (GRCm39)	T704S	probably damaging	Het
Vtcn1	A	T	3: 100,791,145 (GRCm39)	D61V	probably damaging	Het
Zc3h12d	G	A	10: 7,738,364 (GRCm39)	M223I	probably damaging	Het
Zfp592	T	A	7: 80,687,875 (GRCm39)	S934T	probably benign	Het

Other mutations in Ift52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02006:Ift52	APN	2	162,865,289 (GRCm39)	missense	probably benign	0.00
IGL02164:Ift52	APN	2	162,867,384 (GRCm39)	splice site	probably null
IGL02657:Ift52	APN	2	162,887,135 (GRCm39)	missense	probably damaging	1.00
IGL03136:Ift52	APN	2	162,867,254 (GRCm39)	nonsense	probably null
IGL03292:Ift52	APN	2	162,865,320 (GRCm39)	missense	probably damaging	1.00
R1115:Ift52	UTSW	2	162,871,702 (GRCm39)	missense	probably benign	0.34
R1502:Ift52	UTSW	2	162,871,782 (GRCm39)	critical splice donor site	probably null
R1775:Ift52	UTSW	2	162,867,275 (GRCm39)	missense	possibly damaging	0.79
R2204:Ift52	UTSW	2	162,873,150 (GRCm39)	missense	probably benign	0.07
R2259:Ift52	UTSW	2	162,870,013 (GRCm39)	missense	probably benign	0.04
R2348:Ift52	UTSW	2	162,887,177 (GRCm39)	missense	probably damaging	0.99
R4820:Ift52	UTSW	2	162,873,108 (GRCm39)	missense	probably benign	0.06
R5464:Ift52	UTSW	2	162,871,735 (GRCm39)	missense	probably benign	0.20
R7054:Ift52	UTSW	2	162,871,716 (GRCm39)	missense	probably damaging	0.98
Z1088:Ift52	UTSW	2	162,865,278 (GRCm39)	missense	possibly damaging	0.86

Posted On

2016-08-02