Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Ift57'

501971

Institutional Source

Beutler Lab

Gene Symbol

Ift57

Ensembl Gene

ENSMUSG00000032965

Gene Name

intraflagellar transport 57

Synonyms

4833420A15Rik, Esrrbl1, HIPPI, MHS4R2

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6013 (G1)

Quality Score

49.0074

Status

Validated

Chromosome

Chromosomal Location

49519657-49585489 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 49519667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117882 (fasta)

Gene Model

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

AlphaFold

Q8BXG3

Predicted Effect

probably benign
Transcript: ENSMUST00000046777

SMART Domains

Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965

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 null
Transcript: ENSMUST00000142682

SMART Domains

Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Cadm1	C	T	9: 47,768,572 (GRCm39)		probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Cemip2	G	A	19: 21,809,403 (GRCm39)	V928I	possibly damaging	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
Gcnt4	T	C	13: 97,083,786 (GRCm39)	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Hrob	T	C	11: 102,145,859 (GRCm39)	V45A	probably benign	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Kctd3	T	C	1: 188,728,665 (GRCm39)	E157G	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	possibly damaging	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
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'- CGTCACGTAAGAATCCAGCTTTG -3'
(R):5'- AGATTGCTCTTTCGGAGTAGC -3'

Sequencing Primer
(F):5'- CACGTAAGAATCCAGCTTTGATTGG -3'
(R):5'- AGTAGCTCCTCCTCGTAGCG -3'

Posted On

2018-01-31