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 |