Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Ift57'

572594

Institutional Source

Beutler Lab

Gene Symbol

Ift57

Ensembl Gene

ENSMUSG00000032965

Gene Name

intraflagellar transport 57

Synonyms

4833420A15Rik, Esrrbl1, HIPPI, MHS4R2

MMRRC Submission

045461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49519657-49585489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49581357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 341 (E341G)

Ref Sequence

ENSEMBL: ENSMUSP00000046645 (fasta)

Gene Model

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

AlphaFold

Q8BXG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046777
AA Change: E341G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: E341G

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965
AA Change: E212G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142682
AA Change: E256G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: E256G

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: 98.6%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 66,292,242 (GRCm39)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,562,408 (GRCm39)	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,326,490 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,414,183 (GRCm39)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,350,907 (GRCm39)		probably null	Het
Cyp7b1	A	G	3: 18,151,538 (GRCm39)	V225A	probably benign	Het
Esf1	A	G	2: 139,996,854 (GRCm39)	I503T	probably benign	Het
Flrt2	G	A	12: 95,747,329 (GRCm39)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,174,525 (GRCm39)	S791P	probably benign	Het
H2-T22	A	G	17: 36,353,232 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,672 (GRCm39)	S342P	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Itpkc	A	T	7: 26,927,194 (GRCm39)	I240K	probably benign	Het
Kit	A	T	5: 75,808,412 (GRCm39)	S719C	probably damaging	Het
Klf1	T	A	8: 85,629,846 (GRCm39)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,769,709 (GRCm39)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,802,899 (GRCm39)	D347E	probably damaging	Het
Map1s	A	G	8: 71,366,219 (GRCm39)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,666,069 (GRCm39)	T81A	possibly damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Notch1	A	G	2: 26,369,479 (GRCm39)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,647,718 (GRCm39)	T204A	probably benign	Het
Or12e13	T	A	2: 87,664,123 (GRCm39)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,647,033 (GRCm39)	V115E	probably benign	Het
Or9s14	G	T	1: 92,536,189 (GRCm39)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,880,619 (GRCm39)	N127D	probably damaging	Het
Plb1	A	G	5: 32,502,983 (GRCm39)	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,212,430 (GRCm39)	D1007G	probably benign	Het
Prdm16	T	A	4: 154,613,316 (GRCm39)	E37V	probably damaging	Het
Prss45	C	A	9: 110,668,261 (GRCm39)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm39)	K513*	probably null	Het
Serpinb10	T	C	1: 107,460,117 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,334,129 (GRCm39)	V402A	probably benign	Het
Slc25a38	T	A	9: 119,949,902 (GRCm39)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,313,798 (GRCm39)	K514*	probably null	Het
Sorcs3	T	C	19: 48,760,705 (GRCm39)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,657,651 (GRCm39)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,089,292 (GRCm39)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,735,068 (GRCm39)		probably null	Het
Stx2	A	G	5: 129,064,863 (GRCm39)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm39)	N558I	probably benign	Het
Trpm2	T	C	10: 77,750,568 (GRCm39)	T1343A	probably benign	Het
Usf3	T	A	16: 44,040,939 (GRCm39)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,488,037 (GRCm39)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 32,873,566 (GRCm39)	S248P		Het
Zeb2	G	T	2: 44,891,829 (GRCm39)		probably null	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
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'- TTCACTTAAATGCATGGCGCC -3'
(R):5'- CCAAGAGAAGGATTATTGGTTCAC -3'

Sequencing Primer
(F):5'- TGCATGGCGCCTATTAATAAGGAC -3'
(R):5'- GGTTCACATGTTAGCGAACTTC -3'

Posted On

2019-09-13