Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Ift57'

356907

Institutional Source

Beutler Lab

Gene Symbol

Ift57

Ensembl Gene

ENSMUSG00000032965

Gene Name

intraflagellar transport 57

Synonyms

4833420A15Rik, Esrrbl1, HIPPI, MHS4R2

MMRRC Submission

042402-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49519657-49585489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49522263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2 (F2L)

Ref Sequence

ENSEMBL: ENSMUSP00000117882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046777] [ENSMUST00000142682]

AlphaFold

Q8BXG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046777
AA Change: F87L

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

SMART Domains

Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: F87L

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
Pfam:IFT57	44	401	2.1e-154	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127784

Predicted Effect

probably damaging
Transcript: ENSMUST00000142682
AA Change: F2L

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

SMART Domains

Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: F2L

Domain	Start	End	E-Value	Type
Pfam:IFT57	1	272	5.5e-111	PFAM

Meta Mutation Damage Score

0.9676

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cacng3	A	T	7: 122,367,887 (GRCm39)	T256S	probably benign	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Ncaph	T	C	2: 126,948,036 (GRCm39)	D683G	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Or8b54	T	C	9: 38,687,133 (GRCm39)	V194A	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Prcp	A	G	7: 92,566,933 (GRCm39)		probably null	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	probably benign	Het

Other mutations in Ift57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02476:Ift57	APN	16	49,584,252 (GRCm39)	missense	probably benign	0.39
R0636:Ift57	UTSW	16	49,532,259 (GRCm39)	missense	probably benign	0.27
R1552:Ift57	UTSW	16	49,579,716 (GRCm39)	missense	probably benign	0.09
R2172:Ift57	UTSW	16	49,579,703 (GRCm39)	missense	probably benign	0.03
R2885:Ift57	UTSW	16	49,584,114 (GRCm39)	missense	probably damaging	0.98
R4657:Ift57	UTSW	16	49,582,957 (GRCm39)	splice site	probably null
R5726:Ift57	UTSW	16	49,519,861 (GRCm39)	missense	probably damaging	1.00
R5958:Ift57	UTSW	16	49,531,471 (GRCm39)	intron	probably benign
R6013:Ift57	UTSW	16	49,519,667 (GRCm39)	splice site	probably null
R6189:Ift57	UTSW	16	49,584,176 (GRCm39)	missense	probably damaging	1.00
R6390:Ift57	UTSW	16	49,582,836 (GRCm39)	splice site	probably null
R6749:Ift57	UTSW	16	49,581,347 (GRCm39)	missense	probably benign	0.23
R6862:Ift57	UTSW	16	49,584,167 (GRCm39)	missense	possibly damaging	0.49
R7073:Ift57	UTSW	16	49,584,230 (GRCm39)	missense	probably benign	0.10
R7379:Ift57	UTSW	16	49,581,357 (GRCm39)	missense	probably damaging	1.00
R7556:Ift57	UTSW	16	49,526,491 (GRCm39)	missense	probably benign	0.00
R8479:Ift57	UTSW	16	49,522,263 (GRCm39)	missense	probably damaging	1.00
R9011:Ift57	UTSW	16	49,579,777 (GRCm39)	missense	probably benign	0.34
R9313:Ift57	UTSW	16	49,557,085 (GRCm39)	missense	possibly damaging	0.88
R9392:Ift57	UTSW	16	49,584,174 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AGCTCGAAACGTTCTGAGTGC -3'
(R):5'- AAGAGTCATCTGAAAGGCTAGTAC -3'

Sequencing Primer
(F):5'- TGCCGTGAATCACTAGATCG -3'
(R):5'- AGGCTAGTACCTGTTACTGAACTG -3'

Posted On

2015-11-11