Incidental Mutation 'R6696:Imp4'
| ID |
528563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Imp4
|
| Ensembl Gene |
ENSMUSG00000026127 |
| Gene Name |
IMP4, U3 small nucleolar ribonucleoprotein |
| Synonyms |
|
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
34478558-34484828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34483327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027303]
[ENSMUST00000042493]
[ENSMUST00000136770]
[ENSMUST00000137794]
[ENSMUST00000149962]
|
| AlphaFold |
Q8VHZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027303
AA Change: V247A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Blast:Brix
|
22 |
71 |
3e-13 |
BLAST |
|
Brix
|
86 |
258 |
2.37e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042493
|
| SMART Domains |
Protein: ENSMUSP00000042918
Gene: ENSMUSG00000042111
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
38 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136770
|
| SMART Domains |
Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
Blast:Brix
|
25 |
70 |
3e-14 |
BLAST |
|
Pfam:Brix
|
86 |
147 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137794
|
| SMART Domains |
Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Blast:Brix
|
26 |
91 |
4e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149962
|
| SMART Domains |
Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Blast:Brix
|
26 |
91 |
4e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191000
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
Het |
|
| Other mutations in Imp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01948:Imp4
|
APN |
1 |
34,483,356 (GRCm39) |
splice site |
probably benign |
|
|
IGL02039:Imp4
|
APN |
1 |
34,482,849 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02483:Imp4
|
APN |
1 |
34,483,356 (GRCm39) |
splice site |
probably null |
|
|
IGL02799:Imp4
|
UTSW |
1 |
34,479,258 (GRCm39) |
intron |
probably benign |
|
|
R2265:Imp4
|
UTSW |
1 |
34,482,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Imp4
|
UTSW |
1 |
34,482,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Imp4
|
UTSW |
1 |
34,482,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Imp4
|
UTSW |
1 |
34,482,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Imp4
|
UTSW |
1 |
34,479,177 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7936:Imp4
|
UTSW |
1 |
34,482,114 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8422:Imp4
|
UTSW |
1 |
34,482,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Imp4
|
UTSW |
1 |
34,483,445 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8831:Imp4
|
UTSW |
1 |
34,483,445 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9124:Imp4
|
UTSW |
1 |
34,479,128 (GRCm39) |
missense |
unknown |
|
|
R9147:Imp4
|
UTSW |
1 |
34,482,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9527:Imp4
|
UTSW |
1 |
34,481,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9782:Imp4
|
UTSW |
1 |
34,482,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCAAACCAGGATGACTAC -3'
(R):5'- ACTCAGGAAGACCCTCTTGC -3'
Sequencing Primer
(F):5'- ACCAGGATGACTACATTTCATTCCGG -3'
(R):5'- TGTAGGGGTGCCAGCGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation