Incidental Mutation 'PIT4585001:Eif5a'
| ID |
556618 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4585001 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69807540-69812784 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 69808896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043419]
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000070996]
[ENSMUST00000071026]
[ENSMUST00000072581]
[ENSMUST00000108607]
[ENSMUST00000108608]
[ENSMUST00000108609]
[ENSMUST00000108610]
[ENSMUST00000108611]
[ENSMUST00000108612]
[ENSMUST00000108613]
[ENSMUST00000108617]
[ENSMUST00000116358]
[ENSMUST00000133203]
[ENSMUST00000134581]
[ENSMUST00000152589]
[ENSMUST00000153652]
[ENSMUST00000164359]
[ENSMUST00000177138]
[ENSMUST00000177476]
|
| AlphaFold |
P63242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043419
|
| SMART Domains |
Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000067077
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000068651
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812
| 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: ENSMUST00000108608
|
| SMART Domains |
Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104250
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104251
Gene: ENSMUSG00000078812
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812
| 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: ENSMUST00000108613
|
| SMART Domains |
Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812
| 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: 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: 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: 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: ENSMUST00000134581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152589
|
| SMART Domains |
Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812
| 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: 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: ENSMUST00000164359
|
| SMART Domains |
Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
| Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
| Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
| Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
| Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
| Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
| Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
| Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,697 (GRCm39) |
C263R |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
| Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
| Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
| Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
| Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
| Oit3 |
T |
A |
10: 59,266,835 (GRCm39) |
I224F |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
| Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
| Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,794,276 (GRCm39) |
S548L |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
| Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
| Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
| Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,681,631 (GRCm39) |
V696G |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,820 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCCCACAAGGTGCAGTC -3'
(R):5'- AGTTCCCTGAGACTGACTTCC -3'
Sequencing Primer
(F):5'- GTGCAGTCAACACCGCC -3'
(R):5'- GAGACTGACTTCCCTCACTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation