Incidental Mutation 'R4861:Ice2'
| ID |
380253 |
| 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 |
042472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R4861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69322730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 408
(S408R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
|
| AlphaFold |
Q3UZ18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: S408R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: S408R
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 84.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
| Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
| Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
| Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
| Frmd6 |
T |
G |
12: 70,940,500 (GRCm39) |
S382A |
probably damaging |
Het |
| Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
| Mvk |
C |
T |
5: 114,598,258 (GRCm39) |
|
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
| Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
| Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
| Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
| Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
| Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
| Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTAAGTAACTATGACCTGAC -3'
(R):5'- ACCAGAGAATAGCTGTTTCTCCTTC -3'
Sequencing Primer
(F):5'- AAGTAACTATGACCTGACTTTTCCC -3'
(R):5'- CTGATGCCTCAGGTGTAGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation