Incidental Mutation 'R6340:Igf2bp3'
| ID |
513881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igf2bp3
|
| Ensembl Gene |
ENSMUSG00000029814 |
| Gene Name |
insulin-like growth factor 2 mRNA binding protein 3 |
| Synonyms |
2610101N11Rik, IMP3, Koc13 |
| MMRRC Submission |
044494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49062157-49191891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49191393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 5
(Y5H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031838]
|
| AlphaFold |
Q9CPN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031838
AA Change: Y5H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814
AA Change: Y5H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
71 |
1.96e-8 |
SMART |
|
RRM
|
82 |
152 |
3.92e-8 |
SMART |
|
low complexity region
|
164 |
182 |
N/A |
INTRINSIC |
|
KH
|
194 |
265 |
3.01e-11 |
SMART |
|
KH
|
275 |
348 |
1.51e-16 |
SMART |
|
low complexity region
|
377 |
398 |
N/A |
INTRINSIC |
|
KH
|
404 |
475 |
2.16e-12 |
SMART |
|
KH
|
486 |
558 |
1.66e-13 |
SMART |
|
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203680
|
| Meta Mutation Damage Score |
0.5495 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
| Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,152 (GRCm39) |
F243L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,063,496 (GRCm39) |
N309K |
probably damaging |
Het |
| Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
| Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
| Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
| Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
| Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,340,633 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
| Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
| Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,994,517 (GRCm39) |
I305N |
probably damaging |
Het |
| Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
| Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
| Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly damaging |
Het |
|
| Other mutations in Igf2bp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02199:Igf2bp3
|
APN |
6 |
49,065,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02473:Igf2bp3
|
APN |
6 |
49,071,163 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02957:Igf2bp3
|
APN |
6 |
49,064,338 (GRCm39) |
missense |
probably benign |
0.28 |
|
bittie
|
UTSW |
6 |
49,084,362 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
bump
|
UTSW |
6 |
49,094,084 (GRCm39) |
critical splice donor site |
probably benign |
|
|
PIT4131001:Igf2bp3
|
UTSW |
6 |
49,094,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4142001:Igf2bp3
|
UTSW |
6 |
49,094,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0207:Igf2bp3
|
UTSW |
6 |
49,082,551 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0541:Igf2bp3
|
UTSW |
6 |
49,084,401 (GRCm39) |
splice site |
probably benign |
|
|
R1710:Igf2bp3
|
UTSW |
6 |
49,082,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Igf2bp3
|
UTSW |
6 |
49,085,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Igf2bp3
|
UTSW |
6 |
49,085,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2207:Igf2bp3
|
UTSW |
6 |
49,065,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5638:Igf2bp3
|
UTSW |
6 |
49,064,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Igf2bp3
|
UTSW |
6 |
49,094,084 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6108:Igf2bp3
|
UTSW |
6 |
49,094,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Igf2bp3
|
UTSW |
6 |
49,084,362 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6959:Igf2bp3
|
UTSW |
6 |
49,094,082 (GRCm39) |
splice site |
probably null |
|
|
R7380:Igf2bp3
|
UTSW |
6 |
49,085,933 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7731:Igf2bp3
|
UTSW |
6 |
49,111,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8004:Igf2bp3
|
UTSW |
6 |
49,067,954 (GRCm39) |
missense |
probably benign |
|
|
R8727:Igf2bp3
|
UTSW |
6 |
49,086,009 (GRCm39) |
splice site |
probably benign |
|
|
R8861:Igf2bp3
|
UTSW |
6 |
49,082,550 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8902:Igf2bp3
|
UTSW |
6 |
49,065,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9655:Igf2bp3
|
UTSW |
6 |
49,064,338 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Igf2bp3
|
UTSW |
6 |
49,191,362 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGAAAGCGCCTCGAT -3'
(R):5'- AGTTAGGAAGACTCGACGCTGG -3'
Sequencing Primer
(F):5'- CTTAGCGTCCTTGAAGAC -3'
(R):5'- GAAAAAGGACCCTGGGATCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation