Incidental Mutation 'R5066:Ice2'
ID |
388327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice2
|
Ensembl Gene |
ENSMUSG00000032235 |
Gene Name |
interactor of little elongation complex ELL subunit 2 |
Synonyms |
Narg2, B230343B06Rik |
MMRRC Submission |
042656-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.800)
|
Stock # |
R5066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 69315573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 143
(N143T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
[ENSMUST00000117246]
[ENSMUST00000117610]
[ENSMUST00000125938]
[ENSMUST00000145538]
|
AlphaFold |
Q3UZ18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: N143T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034761 Gene: ENSMUSG00000032235 AA Change: N143T
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117610
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142743
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151667
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
A |
T |
11: 70,507,417 (GRCm39) |
Y154F |
probably benign |
Het |
Abca5 |
A |
T |
11: 110,200,176 (GRCm39) |
|
probably benign |
Het |
Agtpbp1 |
T |
A |
13: 59,622,364 (GRCm39) |
D11V |
probably damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,188,982 (GRCm39) |
A299T |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,449,158 (GRCm39) |
V1984D |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Atp13a2 |
G |
A |
4: 140,732,449 (GRCm39) |
V905M |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,489,420 (GRCm39) |
G731R |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,836,113 (GRCm39) |
V1131A |
possibly damaging |
Het |
Bcl2l13 |
T |
A |
6: 120,863,982 (GRCm39) |
V312E |
possibly damaging |
Het |
Chic2 |
A |
G |
5: 75,187,817 (GRCm39) |
V81A |
possibly damaging |
Het |
Drg1 |
A |
T |
11: 3,209,353 (GRCm39) |
I122N |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,490 (GRCm39) |
D444G |
probably benign |
Het |
Flt4 |
A |
G |
11: 49,524,990 (GRCm39) |
N612S |
possibly damaging |
Het |
Hadhb |
T |
C |
5: 30,369,094 (GRCm39) |
|
probably benign |
Het |
Heg1 |
G |
T |
16: 33,559,041 (GRCm39) |
R856S |
probably benign |
Het |
Igkv8-21 |
G |
A |
6: 70,292,427 (GRCm39) |
Q4* |
probably null |
Het |
Lrfn2 |
T |
C |
17: 49,403,448 (GRCm39) |
S524P |
probably damaging |
Het |
Mndal |
C |
A |
1: 173,703,229 (GRCm39) |
A59S |
probably damaging |
Het |
Mpp7 |
T |
C |
18: 7,513,002 (GRCm39) |
E33G |
possibly damaging |
Het |
Msantd5l |
A |
G |
11: 51,145,251 (GRCm39) |
F112S |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,617,801 (GRCm39) |
D187E |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,991,868 (GRCm39) |
I519V |
probably benign |
Het |
Or10p22 |
G |
A |
10: 128,826,660 (GRCm39) |
R293Q |
probably damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,433 (GRCm39) |
I286V |
possibly damaging |
Het |
Padi1 |
T |
C |
4: 140,556,748 (GRCm39) |
N153S |
probably damaging |
Het |
Parp10 |
A |
G |
15: 76,125,146 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Slc2a7 |
T |
A |
4: 150,244,573 (GRCm39) |
M347K |
probably damaging |
Het |
Slc45a2 |
C |
A |
15: 11,012,693 (GRCm39) |
T232K |
probably benign |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,987,538 (GRCm39) |
Y899H |
possibly damaging |
Het |
Sult1c2 |
T |
A |
17: 54,281,026 (GRCm39) |
I26F |
probably damaging |
Het |
Sybu |
A |
G |
15: 44,541,040 (GRCm39) |
C341R |
probably damaging |
Het |
Syk |
T |
A |
13: 52,796,018 (GRCm39) |
S538T |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,013,325 (GRCm39) |
T2840A |
probably benign |
Het |
Thsd4 |
A |
G |
9: 59,883,615 (GRCm39) |
C924R |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,076,504 (GRCm39) |
S175P |
probably benign |
Het |
Tmbim4 |
C |
T |
10: 120,053,537 (GRCm39) |
T112M |
probably benign |
Het |
Tmprss11a |
A |
G |
5: 86,567,859 (GRCm39) |
|
probably null |
Het |
Tnc |
C |
A |
4: 63,893,466 (GRCm39) |
D1698Y |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,927,539 (GRCm39) |
Y18H |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTAACTTTCCCAGACAGTTTGC -3'
(R):5'- ATGGTTCCCTAAGCTGCAGG -3'
Sequencing Primer
(F):5'- GGTTGAACCCATGCCTCACATATG -3'
(R):5'- GGTCCTCACGCACTTAGAGAAG -3'
|
Posted On |
2016-06-06 |