Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Ift57'

584803

Institutional Source

Beutler Lab

Gene Symbol

Ift57

Ensembl Gene

ENSMUSG00000032965

Gene Name

intraflagellar transport 57

Synonyms

4833420A15Rik, Esrrbl1, HIPPI, MHS4R2

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49519657-49585489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49526491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 178 (V178I)

Ref Sequence

ENSEMBL: ENSMUSP00000046645 (fasta)

Gene Model

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

AlphaFold

Q8BXG3

Predicted Effect

probably benign
Transcript: ENSMUST00000046777
AA Change: V178I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: V178I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140914

SMART Domains

Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:IFT57	48	273	6.4e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142682
AA Change: V93I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: V93I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Cenpn	T	C	8: 117,664,008 (GRCm39)	Y267H	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Hexa	T	A	9: 59,470,582 (GRCm39)	L468Q	probably damaging	Het
Kbtbd13	T	C	9: 65,298,757 (GRCm39)	T60A	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Plk2	T	G	13: 110,533,122 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	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
R4761:Ift57	UTSW	16	49,522,263 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGAACATGTTGGATACTAGTGAAC -3'
(R):5'- AGGACTGATGATGGTACTGCAC -3'

Sequencing Primer
(F):5'- GAAGCTTTGGAGAAAACAC -3'
(R):5'- CTGATGATGGTACTGCACTTAGAAAC -3'

Posted On

2019-10-17