Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Eif5a'

297258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif5a

Ensembl Gene

ENSMUSG00000078812

Gene Name

eukaryotic translation initiation factor 5A

Synonyms

D19Wsu54e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL02530

Quality Score

Status

Chromosome

Chromosomal Location

69807540-69812784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69809989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 51 (H51Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000108608] [ENSMUST00000152589] [ENSMUST00000108613] [ENSMUST00000108612] [ENSMUST00000108611] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000164359] [ENSMUST00000116358] [ENSMUST00000153652] [ENSMUST00000134581]

AlphaFold

P63242

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043419
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
eIF-5a	83	150	2.43e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057884

SMART Domains

Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
Pfam:G_path_suppress	5	294	6.1e-93	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070996
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067077
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071026
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068651
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072581

SMART Domains

Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108607
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108608
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152589
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	2e-39	SMART
Pfam:eIF-5a	83	149	6.9e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108613
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108612
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108611
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104251
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108609
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108610
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104250
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164359
AA Change: H51Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812
AA Change: H51Q

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124596

Predicted Effect

probably benign
Transcript: ENSMUST00000116358

SMART Domains

Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153652

SMART Domains

Protein: ENSMUSP00000137459
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
Pfam:eIF-5a	5	72	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134581

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an elongation initiation factor, which participates in protein synthesis. The encoded protein also plays roles in mRNA metabolism, cell proliferation, and cell cycle control. This protein contains a modified lysine residue called hypusine, which appears to be necessary for its function. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2, 5, and 19. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,559,124 (GRCm39)	F305L	probably damaging	Het
Ankrd12	T	C	17: 66,291,398 (GRCm39)	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,787,859 (GRCm39)	M175K	probably damaging	Het
C9	T	A	15: 6,526,613 (GRCm39)	M549K	probably benign	Het
Cfap52	A	G	11: 67,845,007 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,998,670 (GRCm39)	K907N	possibly damaging	Het
Cox8c	T	A	12: 102,865,752 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26b1	A	T	6: 84,551,294 (GRCm39)	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,515,849 (GRCm39)		probably benign	Het
Dpysl2	G	A	14: 67,061,847 (GRCm39)	T253I	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Egflam	T	A	15: 7,252,293 (GRCm39)	I835F	probably damaging	Het
Fancd2	T	A	6: 113,539,422 (GRCm39)	I637N	probably damaging	Het
Gpr173	T	A	X: 151,130,092 (GRCm39)	H127L	probably damaging	Het
Klc3	T	C	7: 19,130,969 (GRCm39)	I203V	probably benign	Het
Lsg1	T	C	16: 30,390,060 (GRCm39)	K352E	probably benign	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med12l	G	T	3: 58,984,510 (GRCm39)	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,058,943 (GRCm39)	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,935,160 (GRCm39)	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,450,646 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,555 (GRCm39)	M136L	possibly damaging	Het
Or8k33	C	T	2: 86,384,224 (GRCm39)	M81I	possibly damaging	Het
Pax3	A	T	1: 78,098,424 (GRCm39)	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Plekhb2	T	C	1: 34,916,022 (GRCm39)	V187A	possibly damaging	Het
Pot1a	A	T	6: 25,794,592 (GRCm39)	F31I	probably damaging	Het
Rpap1	A	T	2: 119,613,720 (GRCm39)		probably benign	Het
Scmh1	T	A	4: 120,385,343 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,560,522 (GRCm39)	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,001,634 (GRCm39)	V148A	probably benign	Het
Slit3	A	G	11: 35,598,969 (GRCm39)	*1524W	probably null	Het
Son	C	A	16: 91,455,359 (GRCm39)	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,338,868 (GRCm39)	L25*	probably null	Het
Sptbn4	T	C	7: 27,090,976 (GRCm39)	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,522,902 (GRCm39)	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,960,617 (GRCm39)	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,233,858 (GRCm39)	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,785,846 (GRCm39)		probably benign	Het
Zfp57	T	A	17: 37,317,056 (GRCm39)	S45T	probably damaging	Het

Other mutations in Eif5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0042:Eif5a	UTSW	11	69,808,728 (GRCm39)	unclassified	probably benign
PIT4585001:Eif5a	UTSW	11	69,808,896 (GRCm39)	unclassified	probably benign
R0320:Eif5a	UTSW	11	69,808,305 (GRCm39)	missense	probably benign	0.08
R4909:Eif5a	UTSW	11	69,808,311 (GRCm39)	missense	possibly damaging	0.94
R5816:Eif5a	UTSW	11	69,808,499 (GRCm39)	missense	possibly damaging	0.68
R9779:Eif5a	UTSW	11	69,810,021 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16