Incidental Mutation 'R8525:Ice2'
ID |
658770 |
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 |
067950-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.756)
|
Stock # |
R8525 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69318698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 294
(Y294C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
[ENSMUST00000117246]
[ENSMUST00000117610]
[ENSMUST00000125938]
[ENSMUST00000145538]
|
AlphaFold |
Q3UZ18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034761
AA Change: Y294C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034761 Gene: ENSMUSG00000032235 AA Change: Y294C
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 |
probably benign
Transcript: ENSMUST00000145538
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
A |
T |
7: 27,255,936 (GRCm39) |
N8Y |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,559,378 (GRCm39) |
D197V |
possibly damaging |
Het |
Aar2 |
G |
A |
2: 156,397,837 (GRCm39) |
R283Q |
probably benign |
Het |
Acsf2 |
T |
A |
11: 94,463,446 (GRCm39) |
I119F |
probably benign |
Het |
Adamtsl1 |
C |
T |
4: 86,195,247 (GRCm39) |
P572S |
probably damaging |
Het |
Adh5 |
A |
T |
3: 138,157,095 (GRCm39) |
I219F |
probably damaging |
Het |
Arhgap23 |
T |
A |
11: 97,380,910 (GRCm39) |
F1098I |
probably damaging |
Het |
Bicc1 |
G |
T |
10: 70,779,365 (GRCm39) |
H674Q |
possibly damaging |
Het |
Ccdc39 |
C |
T |
3: 33,868,853 (GRCm39) |
R786H |
probably benign |
Het |
Ccr1l1 |
A |
G |
9: 123,777,589 (GRCm39) |
I286T |
possibly damaging |
Het |
Ccr9 |
T |
A |
9: 123,608,732 (GRCm39) |
M138K |
probably benign |
Het |
Dbh |
T |
C |
2: 27,055,798 (GRCm39) |
F91L |
probably benign |
Het |
Dip2a |
T |
A |
10: 76,110,115 (GRCm39) |
|
probably null |
Het |
Eif3j1 |
A |
G |
2: 121,880,991 (GRCm39) |
I148V |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,534,892 (GRCm39) |
R116G |
probably damaging |
Het |
Exoc6 |
C |
A |
19: 37,597,440 (GRCm39) |
Q614K |
possibly damaging |
Het |
Gabpb1 |
A |
G |
2: 126,494,194 (GRCm39) |
S144P |
possibly damaging |
Het |
Galnt13 |
G |
A |
2: 54,950,488 (GRCm39) |
V390M |
possibly damaging |
Het |
Gimap5 |
T |
C |
6: 48,729,501 (GRCm39) |
S24P |
probably benign |
Het |
Gm4924 |
T |
A |
10: 82,213,701 (GRCm39) |
|
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,865,365 (GRCm39) |
I613K |
probably damaging |
Het |
Hsp90ab1 |
T |
A |
17: 45,880,726 (GRCm39) |
E115D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,759 (GRCm39) |
V1949A |
probably damaging |
Het |
Il17ra |
T |
G |
6: 120,451,298 (GRCm39) |
Y157* |
probably null |
Het |
Ipo13 |
T |
C |
4: 117,762,126 (GRCm39) |
E416G |
probably damaging |
Het |
Large1 |
C |
T |
8: 73,564,120 (GRCm39) |
V549M |
probably damaging |
Het |
Mmp17 |
A |
G |
5: 129,679,271 (GRCm39) |
D390G |
probably damaging |
Het |
Mrps10 |
T |
G |
17: 47,683,371 (GRCm39) |
I102R |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,450,155 (GRCm39) |
L1712P |
probably damaging |
Het |
Nipal2 |
A |
G |
15: 34,584,815 (GRCm39) |
M251T |
probably damaging |
Het |
Nup160 |
G |
A |
2: 90,548,440 (GRCm39) |
|
probably null |
Het |
Or5ac19 |
A |
T |
16: 59,089,571 (GRCm39) |
V153D |
probably benign |
Het |
Or6f2 |
T |
C |
7: 139,756,255 (GRCm39) |
I74T |
probably damaging |
Het |
Pdcd11 |
G |
A |
19: 47,081,337 (GRCm39) |
D34N |
possibly damaging |
Het |
Pigb |
G |
T |
9: 72,924,809 (GRCm39) |
P450Q |
probably damaging |
Het |
Radil |
A |
C |
5: 142,474,256 (GRCm39) |
L730R |
probably damaging |
Het |
Rsbn1 |
G |
T |
3: 103,821,538 (GRCm39) |
|
probably benign |
Het |
Sec24b |
T |
C |
3: 129,805,467 (GRCm39) |
D264G |
probably damaging |
Het |
Shank3 |
C |
G |
15: 89,431,973 (GRCm39) |
S906C |
probably damaging |
Het |
Slc1a3 |
A |
G |
15: 8,672,459 (GRCm39) |
V340A |
possibly damaging |
Het |
Slc1a3 |
A |
T |
15: 8,680,423 (GRCm39) |
I145N |
possibly damaging |
Het |
Slc35f4 |
A |
T |
14: 49,541,681 (GRCm39) |
S208T |
possibly damaging |
Het |
Spopfm1 |
A |
G |
3: 94,173,862 (GRCm39) |
N290S |
probably benign |
Het |
Tmem132b |
A |
G |
5: 125,715,380 (GRCm39) |
D363G |
probably benign |
Het |
Tox3 |
T |
G |
8: 91,001,309 (GRCm39) |
N34T |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,001 (GRCm39) |
I305L |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,120,711 (GRCm39) |
I57V |
possibly damaging |
Het |
Zfhx4 |
T |
G |
3: 5,464,603 (GRCm39) |
L1587R |
probably damaging |
Het |
Zfp112 |
A |
G |
7: 23,825,322 (GRCm39) |
N430S |
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 |
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 |
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'- TGTAGTGGAAATGTTGAGAATGACC -3'
(R):5'- CCGGGTTTAAATGTCAGATTCTCATTC -3'
Sequencing Primer
(F):5'- TGACCTAGATAATAAGGTGCATATGG -3'
(R):5'- TCTCCTTAAACAAAGATGGAGACCTG -3'
|
Posted On |
2021-01-18 |