Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Ift52'

547759

Institutional Source

Beutler Lab

Gene Symbol

Ift52

Ensembl Gene

ENSMUSG00000017858

Gene Name

intraflagellar transport 52

Synonyms

NGD5

MMRRC Submission

045151-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

162859274-162888061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162871716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 183 (V183M)

Ref Sequence

ENSEMBL: ENSMUSP00000121943 (fasta)

Gene Model

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

AlphaFold

Q62559

Predicted Effect

probably damaging
Transcript: ENSMUST00000018002
AA Change: V183M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: V183M

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 damaging
Transcript: ENSMUST00000150396
AA Change: V183M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: V183M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,486 (GRCm39)	H44L	unknown	Het
Abcc3	T	C	11: 94,256,051 (GRCm39)	K478R	probably benign	Het
Ank2	A	T	3: 126,736,952 (GRCm39)		probably benign	Het
Apod	A	G	16: 31,129,950 (GRCm39)	V2A	probably benign	Het
Armh4	C	A	14: 50,011,155 (GRCm39)	S184I	probably damaging	Het
Aspg	T	A	12: 112,092,824 (GRCm39)	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878 (GRCm38)	T855S	probably benign	Het
Blmh	G	C	11: 76,859,451 (GRCm39)	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,857,321 (GRCm39)	R454*	probably null	Het
Cenpp	T	C	13: 49,619,233 (GRCm39)	E188G	probably damaging	Het
Cimip3	A	G	17: 47,748,114 (GRCm39)		probably null	Het
Creg2	T	C	1: 39,662,376 (GRCm39)	E252G	probably benign	Het
Dot1l	A	G	10: 80,622,857 (GRCm39)	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,614,835 (GRCm39)	I36T	probably benign	Het
Eed	A	G	7: 89,613,935 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,353 (GRCm39)	D351G	unknown	Het
Fra10ac1	C	T	19: 38,212,567 (GRCm39)		probably benign	Het
Gdpd4	T	A	7: 97,623,136 (GRCm39)	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,676,423 (GRCm39)	V600D	probably null	Het
Gm13889	A	T	2: 93,787,459 (GRCm39)		probably benign	Het
Gm17654	T	A	14: 43,813,327 (GRCm39)	N188Y		Het
Gm3327	T	C	14: 44,363,732 (GRCm39)	F112S		Het
H2-Ab1	T	C	17: 34,482,316 (GRCm39)	S11P	probably benign	Het
Hcn4	T	C	9: 58,763,000 (GRCm39)	S522P	unknown	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hoxa1	A	G	6: 52,135,180 (GRCm39)	S8P	probably damaging	Het
Hoxd13	A	G	2: 74,499,369 (GRCm39)	Y239C	probably damaging	Het
Ifih1	T	A	2: 62,440,859 (GRCm39)	I485L	probably benign	Het
Ikbkb	A	G	8: 23,161,658 (GRCm39)	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,478,473 (GRCm39)	V515I	probably benign	Het
Klk1b3	A	T	7: 43,850,863 (GRCm39)	I132F	probably damaging	Het
Limk2	T	C	11: 3,305,448 (GRCm39)	T206A	possibly damaging	Het
Llph	A	T	10: 120,067,240 (GRCm39)		probably benign	Het
Lrrc26	T	A	2: 25,180,087 (GRCm39)	D29E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfhas1	T	C	8: 36,055,792 (GRCm39)	V89A	probably benign	Het
Mycbp2	G	A	14: 103,393,534 (GRCm39)	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,186,449 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,275,619 (GRCm39)	D530G	probably null	Het
Or10ag55-ps1	T	A	2: 87,114,775 (GRCm39)	M47K	probably benign	Het
Or56a3b	C	T	7: 104,771,170 (GRCm39)	R169*	probably null	Het
Pax4	A	G	6: 28,446,322 (GRCm39)	I57T	probably damaging	Het
Peg12	T	C	7: 62,113,711 (GRCm39)	I129V	possibly damaging	Het
Pex6	G	A	17: 47,031,447 (GRCm39)	A416T	probably benign	Het
Pgghg	G	A	7: 140,524,631 (GRCm39)	R326H	probably benign	Het
Pgk2	T	A	17: 40,519,366 (GRCm39)	M21L	probably benign	Het
Polh	A	T	17: 46,509,642 (GRCm39)	W64R	probably benign	Het
Rassf7	T	A	7: 140,797,556 (GRCm39)	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,265,258 (GRCm39)	M1184T	probably benign	Het
Ror1	A	T	4: 100,299,436 (GRCm39)	E936D	probably benign	Het
Skic3	G	A	13: 76,283,079 (GRCm39)	A769T	probably damaging	Het
Slco1b2	A	T	6: 141,617,974 (GRCm39)	T440S	probably damaging	Het
Specc1	T	A	11: 62,008,604 (GRCm39)	V40E	probably damaging	Het
Tarbp1	T	A	8: 127,201,234 (GRCm39)	S191C	possibly damaging	Het
Timm22	A	G	11: 76,298,071 (GRCm39)	E14G	possibly damaging	Het
Tpp2	T	A	1: 44,022,318 (GRCm39)	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,768,756 (GRCm39)	L108P	probably damaging	Het
Ttc9b	A	G	7: 27,353,667 (GRCm39)	T106A	probably benign	Het
Ttn	T	C	2: 76,545,012 (GRCm39)	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,510,514 (GRCm39)	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,521,427 (GRCm39)	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,822,051 (GRCm39)	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,499,182 (GRCm39)	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,559,227 (GRCm39)	S379P	probably benign	Het
Zfp870	T	C	17: 33,102,456 (GRCm39)	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,229,786 (GRCm39)	N246K	possibly damaging	Het
Zp1	G	A	19: 10,896,104 (GRCm39)	T207M	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
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
Z1088:Ift52	UTSW	2	162,865,278 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCCGTAGACACATGCACACTAG -3'
(R):5'- TGGGAAAATAGACTTCAGGTTCTACC -3'

Sequencing Primer
(F):5'- TGCACACTAGCATATGTGTGGAAC -3'
(R):5'- ATCAGGGCATCATTATGTACCCTTGG -3'

Posted On

2019-05-13