Incidental Mutation 'R9527:Imp4'
| ID |
719292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Imp4
|
| Ensembl Gene |
ENSMUSG00000026127 |
| Gene Name |
IMP4, U3 small nucleolar ribonucleoprotein |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R9527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
34478558-34484828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34481991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 38
(E38G)
|
| 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: E38G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127
AA Change: E38G
| 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 |
probably benign
Transcript: ENSMUST00000136770
AA Change: E37G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127
AA Change: E37G
| 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 |
possibly damaging
Transcript: ENSMUST00000137794
AA Change: E38G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Blast:Brix
|
26 |
91 |
4e-16 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149962
AA Change: E38G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Blast:Brix
|
26 |
91 |
4e-16 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
| Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
| Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
| Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
| Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
| Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
| Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
| Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
| Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
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 |
|
R6696:Imp4
|
UTSW |
1 |
34,483,327 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
|
R9782:Imp4
|
UTSW |
1 |
34,482,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCGACACACTCAGCAGC -3'
(R):5'- AACTGCTCACCTGGACACTTC -3'
Sequencing Primer
(F):5'- CTCAGCAGCAAAGCCATGGG -3'
(R):5'- CCATCAGGTGGGAAATTGTCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation