Incidental Mutation 'R5021:Igf2bp1'
| ID |
389203 |
| 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 |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
95847989-95896766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95864832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 206
(Y206H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013559]
|
| AlphaFold |
O88477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013559
AA Change: Y206H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: Y206H
| 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: ENSMUST00000141515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152896
|
| Meta Mutation Damage Score |
0.3902 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGACAGTGACCATTCATG -3'
(R):5'- ATGAAGCTAAATGGCCATCAACTG -3'
Sequencing Primer
(F):5'- GACAGTGACCATTCATGTCCTGAG -3'
(R):5'- GAGAACCATGCCCTGAAGGTCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation