Incidental Mutation 'R0011:Igf2bp1'
| ID |
19128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igf2bp1
|
| Ensembl Gene |
ENSMUSG00000013415 |
| Gene Name |
insulin-like growth factor 2 mRNA binding protein 1 |
| Synonyms |
D030026A21Rik, IMP1, Crdbp, D11Moh45, IMP-1, D11Moh40e, CRD-BP, Zbp1 |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R0011 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95847989-95896766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95896410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013559]
|
| AlphaFold |
O88477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013559
AA Change: D17G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
71 |
7.42e-9 |
SMART |
|
RRM
|
82 |
152 |
5.25e-9 |
SMART |
|
KH
|
194 |
265 |
7.75e-14 |
SMART |
|
KH
|
275 |
348 |
7.34e-15 |
SMART |
|
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
|
KH
|
404 |
475 |
1.91e-13 |
SMART |
|
KH
|
486 |
558 |
1.42e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194862
|
| Meta Mutation Damage Score |
0.2989 |
| Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
| Validation Efficiency |
92% (85/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutation of this locus results in increased neonatal lethality, growth retardation, and impaired intestinal development. Males exhibit increased anxiety-like response and decreased exploratory behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
| Other mutations in Igf2bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02554:Igf2bp1
|
APN |
11 |
95,864,994 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03263:Igf2bp1
|
APN |
11 |
95,857,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Igf2bp1
|
UTSW |
11 |
95,896,410 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0098:Igf2bp1
|
UTSW |
11 |
95,863,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Igf2bp1
|
UTSW |
11 |
95,859,719 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0534:Igf2bp1
|
UTSW |
11 |
95,857,622 (GRCm39) |
splice site |
probably benign |
|
|
R2025:Igf2bp1
|
UTSW |
11 |
95,864,996 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2026:Igf2bp1
|
UTSW |
11 |
95,864,996 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2103:Igf2bp1
|
UTSW |
11 |
95,866,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2104:Igf2bp1
|
UTSW |
11 |
95,866,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5021:Igf2bp1
|
UTSW |
11 |
95,864,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5154:Igf2bp1
|
UTSW |
11 |
95,854,373 (GRCm39) |
nonsense |
probably null |
|
|
R6123:Igf2bp1
|
UTSW |
11 |
95,866,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6130:Igf2bp1
|
UTSW |
11 |
95,864,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Igf2bp1
|
UTSW |
11 |
95,863,948 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7173:Igf2bp1
|
UTSW |
11 |
95,859,290 (GRCm39) |
missense |
probably benign |
|
|
R7748:Igf2bp1
|
UTSW |
11 |
95,858,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8722:Igf2bp1
|
UTSW |
11 |
95,861,606 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2013-03-25 |
Incidental Mutation