Mutagenetix > Incidental Mutation

Incidental Mutation 'R2204:Ift52'

238886

Institutional Source

Beutler Lab

Gene Symbol

Ift52

Ensembl Gene

ENSMUSG00000017858

Gene Name

intraflagellar transport 52

Synonyms

NGD5

MMRRC Submission

040206-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2204 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162859274-162888061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162873150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 221 (S221N)

Ref Sequence

ENSEMBL: ENSMUSP00000018002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018002] [ENSMUST00000150396]

AlphaFold

Q62559

Predicted Effect

probably benign
Transcript: ENSMUST00000018002
AA Change: S221N

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: S221N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150396
AA Change: S221N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: S221N

Domain	Start	End	E-Value	Type
Pfam:ABC_transp_aux	3	117	4.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152201

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	A	G	3: 107,140,943 (GRCm39)		probably benign	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Acsf3	C	T	8: 123,540,383 (GRCm39)	S527F	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Bap1	T	C	14: 30,978,658 (GRCm39)	V23A	probably benign	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Ceacam11	C	T	7: 17,709,273 (GRCm39)	T157I	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Chrnb4	G	A	9: 54,951,132 (GRCm39)	R44C	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Espl1	A	G	15: 102,214,340 (GRCm39)	E693G	probably damaging	Het
Fat1	G	T	8: 45,476,737 (GRCm39)	A1928S	probably damaging	Het
Fiz1	C	T	7: 5,011,685 (GRCm39)	E278K	probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Hlcs	T	C	16: 94,032,011 (GRCm39)	T451A	probably benign	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,280 (GRCm39)	K212N	possibly damaging	Het
Ndufb7	A	G	8: 84,297,528 (GRCm39)	H61R	probably damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10j2	T	A	1: 173,097,703 (GRCm39)		probably null	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Or7d11	T	C	9: 19,966,507 (GRCm39)	N84S	possibly damaging	Het
P3h4	G	A	11: 100,304,832 (GRCm39)	A185V	probably benign	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Pramel32	A	T	4: 88,546,355 (GRCm39)	L329Q	probably damaging	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,449,099 (GRCm39)	V302A	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Speg	A	T	1: 75,407,121 (GRCm39)	T3137S	probably benign	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stard9	GAAA	GAA	2: 120,529,012 (GRCm39)		probably null	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Taco1	C	T	11: 105,962,760 (GRCm39)	A149V	probably benign	Het
Tenm3	T	C	8: 49,127,585 (GRCm39)	E31G	probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trabd2b	T	C	4: 114,460,191 (GRCm39)	L443P	probably damaging	Het
Trip4	T	A	9: 65,771,547 (GRCm39)	I328F	probably damaging	Het
Trpc3	A	G	3: 36,704,298 (GRCm39)	F553S	possibly damaging	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	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
IGL02876:Ift52	APN	2	162,878,627 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTAGCAGTGTGGTGAAAGACTC -3'
(R):5'- AGGGCTACGGCTGACTCAATAC -3'

Sequencing Primer
(F):5'- AGAGGCCTGCTTAGTTCTCAGAAC -3'
(R):5'- GGCTACGGCTGACTCAATACTTTTAG -3'

Posted On

2014-10-02