Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Eif5a'

38298

Institutional Source

Beutler Lab

Gene Symbol

Eif5a

Ensembl Gene

ENSMUSG00000078812

Gene Name

eukaryotic translation initiation factor 5A

Synonyms

D19Wsu54e

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0320 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

69807540-69812784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69808305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 64 (T64K)

Ref Sequence

ENSEMBL: ENSMUSP00000137459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000153652] [ENSMUST00000108608] [ENSMUST00000108611] [ENSMUST00000108612] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000152589] [ENSMUST00000108613] [ENSMUST00000108617] [ENSMUST00000133203] [ENSMUST00000116358] [ENSMUST00000134581] [ENSMUST00000164359] [ENSMUST00000177476] [ENSMUST00000177138]

AlphaFold

P63242

Predicted Effect

probably benign
Transcript: ENSMUST00000043419
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812
AA Change: T142K

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

probably benign
Transcript: ENSMUST00000061837

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	913	1043	2.27e-17	SMART
low complexity region	1108	1117	N/A	INTRINSIC
NEUZ	1130	1250	4.93e-6	SMART
low complexity region	1453	1464	N/A	INTRINSIC
low complexity region	1474	1483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070996
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067077
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000071026
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068651
Gene: ENSMUSG00000078812
AA Change: T142K

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

probably benign
Transcript: ENSMUST00000108607
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000153652
AA Change: T64K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137459
Gene: ENSMUSG00000078812
AA Change: T64K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108608
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000108611
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104251
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000108612
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000108609
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000108610
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104250
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000152589
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812
AA Change: T142K

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

probably benign
Transcript: ENSMUST00000108613
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000108617

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	3.5e-31	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	2.5e-54	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	2e-48	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	2.6e-41	SMART
NEUZ	891	1021	7.6e-20	SMART
low complexity region	1086	1095	N/A	INTRINSIC
NEUZ	1108	1228	1.7e-8	SMART
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1452	1461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132183

SMART Domains

Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	161	172	N/A	INTRINSIC
low complexity region	182	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133203

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
NEUZ	60	185	7.22e-52	SMART
low complexity region	235	246	N/A	INTRINSIC
NEUZ	263	387	6.15e-46	SMART
low complexity region	429	443	N/A	INTRINSIC
NEUZ	459	583	7.81e-39	SMART
NEUZ	656	786	2.27e-17	SMART
low complexity region	851	860	N/A	INTRINSIC
Pfam:Neuralized	875	942	6.5e-10	PFAM

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: ENSMUST00000134581

Predicted Effect

probably benign
Transcript: ENSMUST00000164359
AA Change: T142K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812
AA Change: T142K

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: ENSMUST00000177476

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	911	1041	2.27e-17	SMART
low complexity region	1106	1115	N/A	INTRINSIC
NEUZ	1128	1248	4.93e-6	SMART
low complexity region	1451	1462	N/A	INTRINSIC
low complexity region	1472	1481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177138

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	7.22e-52	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	6.15e-46	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	7.81e-39	SMART
NEUZ	889	1019	2.27e-17	SMART
low complexity region	1084	1093	N/A	INTRINSIC
NEUZ	1106	1226	4.93e-6	SMART
low complexity region	1429	1440	N/A	INTRINSIC
low complexity region	1450	1459	N/A	INTRINSIC

Meta Mutation Damage Score

0.1290

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Aadacl4fm1	A	T	4: 144,248,990 (GRCm39)	H119L	probably damaging	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Cit	C	A	5: 116,117,504 (GRCm39)	L1227M	possibly damaging	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dop1b	C	A	16: 93,607,035 (GRCm39)	R2113S	probably benign	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or1e23	T	G	11: 73,407,750 (GRCm39)	I92L	probably damaging	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Wnt16	T	G	6: 22,297,992 (GRCm39)	V286G	possibly damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	probably damaging	Het

Other mutations in Eif5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02530:Eif5a	APN	11	69,809,989 (GRCm39)	missense	possibly damaging	0.78
P0042:Eif5a	UTSW	11	69,808,728 (GRCm39)	unclassified	probably benign
PIT4585001:Eif5a	UTSW	11	69,808,896 (GRCm39)	unclassified	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CTGTAGGCTCATGGATCACTGCTG -3'
(R):5'- GGAGTGAAGGAAGTTGCTGTCACTG -3'

Sequencing Primer
(F):5'- ATGGATCACTGCTGCCACC -3'
(R):5'- TCTGCCTGAAGGAGACCTTG -3'

Posted On

2013-05-23