Incidental Mutation 'IGL01626:Ice2'
ID |
92763 |
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: 0.756)
|
Stock # |
IGL01626
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 69314614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 42
(V42G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
[ENSMUST00000117246]
[ENSMUST00000117610]
[ENSMUST00000125938]
[ENSMUST00000145538]
|
AlphaFold |
Q3UZ18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: V121G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000034761 Gene: ENSMUSG00000032235 AA Change: V121G
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 |
probably benign
Transcript: ENSMUST00000117246
AA Change: V121G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117610
AA Change: S72A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142743
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145538
AA Change: V42G
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151667
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
probably 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 |
IGL03035:Ice2
|
APN |
9 |
69,332,970 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2013-12-09 |