Incidental Mutation 'R1373:Ice2'
ID |
157408 |
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 |
039437-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.800)
|
Stock # |
R1373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69314401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 50
(R50H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
[ENSMUST00000117246]
[ENSMUST00000117610]
[ENSMUST00000125938]
[ENSMUST00000145538]
|
AlphaFold |
Q3UZ18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: R50H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000034761 Gene: ENSMUSG00000032235 AA Change: R50H
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: R50H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117610
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125938
AA Change: R15H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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 |
0.0597 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
G |
A |
14: 68,808,400 (GRCm39) |
R317C |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
Odad4 |
T |
C |
11: 100,436,658 (GRCm39) |
F11S |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,251 (GRCm39) |
I221M |
probably damaging |
Het |
Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTAGTTGAAGTGTGCCTCTCCCC -3'
(R):5'- CCTCTGTGAGAACCGAGAGAAACG -3'
Sequencing Primer
(F):5'- CTCTCAGGTGGCTGAAGGTAAAC -3'
(R):5'- GAGGATAAGGAACTCGTGGTTTTG -3'
|
Posted On |
2014-02-18 |