Incidental Mutation 'IGL03035:Ice2'
| ID |
408620 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ice2
|
| Ensembl Gene |
ENSMUSG00000032235 |
| Gene Name |
interactor of little elongation complex ELL subunit 2 |
| Synonyms |
Narg2, B230343B06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69332970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 825
(F825L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
|
| AlphaFold |
Q3UZ18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: F825L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: F825L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
408 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
Pfam:NARG2_C
|
726 |
936 |
1.7e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147558
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
| Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly damaging |
Het |
|
| Other mutations in Ice2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Ice2
|
APN |
9 |
69,323,395 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01626:Ice2
|
APN |
9 |
69,314,614 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0227:Ice2
|
UTSW |
9 |
69,319,510 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1373:Ice2
|
UTSW |
9 |
69,314,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1381:Ice2
|
UTSW |
9 |
69,307,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Ice2
|
UTSW |
9 |
69,318,724 (GRCm39) |
missense |
probably null |
0.01 |
|
R1778:Ice2
|
UTSW |
9 |
69,322,930 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1818:Ice2
|
UTSW |
9 |
69,339,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Ice2
|
UTSW |
9 |
69,314,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1876:Ice2
|
UTSW |
9 |
69,322,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1878:Ice2
|
UTSW |
9 |
69,335,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2026:Ice2
|
UTSW |
9 |
69,323,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2915:Ice2
|
UTSW |
9 |
69,318,122 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4097:Ice2
|
UTSW |
9 |
69,328,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4815:Ice2
|
UTSW |
9 |
69,314,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Ice2
|
UTSW |
9 |
69,322,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4861:Ice2
|
UTSW |
9 |
69,322,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5066:Ice2
|
UTSW |
9 |
69,315,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Ice2
|
UTSW |
9 |
69,335,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5898:Ice2
|
UTSW |
9 |
69,315,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5951:Ice2
|
UTSW |
9 |
69,319,651 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6176:Ice2
|
UTSW |
9 |
69,324,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Ice2
|
UTSW |
9 |
69,323,511 (GRCm39) |
missense |
probably benign |
|
|
R6632:Ice2
|
UTSW |
9 |
69,335,734 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7195:Ice2
|
UTSW |
9 |
69,335,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7272:Ice2
|
UTSW |
9 |
69,324,365 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7365:Ice2
|
UTSW |
9 |
69,307,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Ice2
|
UTSW |
9 |
69,323,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7535:Ice2
|
UTSW |
9 |
69,339,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7937:Ice2
|
UTSW |
9 |
69,318,067 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8124:Ice2
|
UTSW |
9 |
69,307,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Ice2
|
UTSW |
9 |
69,317,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Ice2
|
UTSW |
9 |
69,318,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Ice2
|
UTSW |
9 |
69,314,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Ice2
|
UTSW |
9 |
69,322,899 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation