Mutagenetix > Incidental Mutation

Incidental Mutation 'R0719:Eif1'

63799

Institutional Source

Beutler Lab

Gene Symbol

Eif1

Ensembl Gene

ENSMUSG00000035530

Gene Name

eukaryotic translation initiation factor 1

Synonyms

Sui1-rs1

MMRRC Submission

038901-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0719 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

100210775-100212925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100211856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 93 (I93K)

Ref Sequence

ENSEMBL: ENSMUSP00000041538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049385] [ENSMUST00000151513]

AlphaFold

P48024

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049385
AA Change: I93K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041538
Gene: ENSMUSG00000035530
AA Change: I93K

Domain	Start	End	E-Value	Type
Pfam:SUI1	27	103	1.6e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139846

Predicted Effect

probably benign
Transcript: ENSMUST00000151513

SMART Domains

Protein: ENSMUSP00000137558
Gene: ENSMUSG00000035530

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:SUI1	56	110	8.6e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000152521
AA Change: I68K

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Glmp	G	T	3: 88,233,452 (GRCm39)	E136*	probably null	Het
Hgs	T	C	11: 120,362,431 (GRCm39)		probably null	Het
Iqcg	T	C	16: 32,861,215 (GRCm39)	D167G	probably benign	Het
Or1ad6	T	A	11: 50,860,761 (GRCm39)	C305*	probably null	Het
Pik3c2g	G	A	6: 139,606,723 (GRCm39)	E257K	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,661 (GRCm39)		probably null	Het
Rock1	T	C	18: 10,099,328 (GRCm39)	H691R	probably damaging	Het
Sgce	T	A	6: 4,689,753 (GRCm39)	H360L	probably damaging	Het
Susd1	T	A	4: 59,329,506 (GRCm39)	N641I	possibly damaging	Het

Other mutations in Eif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Eif1	APN	11	100,211,826 (GRCm39)	missense	probably benign	0.03
Lyft	UTSW	11	100,211,552 (GRCm39)	missense	probably damaging	1.00
R3801:Eif1	UTSW	11	100,211,650 (GRCm39)	missense	probably damaging	0.99
R3804:Eif1	UTSW	11	100,211,650 (GRCm39)	missense	probably damaging	0.99
R5086:Eif1	UTSW	11	100,211,552 (GRCm39)	missense	probably damaging	1.00
R6247:Eif1	UTSW	11	100,211,223 (GRCm39)	unclassified	probably benign
R8026:Eif1	UTSW	11	100,211,274 (GRCm39)	missense	possibly damaging	0.72
R8188:Eif1	UTSW	11	100,211,624 (GRCm39)	missense	probably benign
R8265:Eif1	UTSW	11	100,211,299 (GRCm39)	missense	probably benign	0.00
R8286:Eif1	UTSW	11	100,210,795 (GRCm39)	unclassified	probably benign
R9590:Eif1	UTSW	11	100,210,867 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCAAGGGATCGCTGATGATTACG -3'
(R):5'- CCTCACTTAAGCTTCAGAGAGCCAC -3'

Sequencing Primer
(F):5'- AGCACGTTGTATGGTCTACCAAG -3'
(R):5'- GTCTATCCCAGTAGACACAATGGTTC -3'

Posted On

2013-07-30