Incidental Mutation 'R8381:Ice2'
| ID |
646951 |
| 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 |
067748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R8381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69317453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 192
(H192Q)
|
| 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: H192Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: H192Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,879,282 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Adam34 |
A |
G |
8: 44,104,847 (GRCm39) |
I266T |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,302,952 (GRCm39) |
N2507S |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,527,710 (GRCm39) |
D144G |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,177,470 (GRCm39) |
S346P |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,114 (GRCm39) |
F270S |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,373,000 (GRCm39) |
D1026V |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,482,509 (GRCm39) |
|
probably null |
Het |
| Gjb6 |
T |
C |
14: 57,361,919 (GRCm39) |
E114G |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,949,930 (GRCm39) |
M1V |
probably null |
Het |
| Hey2 |
A |
G |
10: 30,709,986 (GRCm39) |
S256P |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,337,920 (GRCm39) |
H590Q |
probably damaging |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,501 (GRCm39) |
Q81L |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,325 (GRCm39) |
H51L |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,895 (GRCm39) |
V218E |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,991 (GRCm39) |
D1190G |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,447 (GRCm39) |
Y198H |
probably damaging |
Het |
| Nlrp6 |
C |
T |
7: 140,503,754 (GRCm39) |
A620V |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,146 (GRCm39) |
F164L |
|
Het |
| Or5h22 |
A |
G |
16: 58,895,225 (GRCm39) |
S73P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,808,373 (GRCm39) |
I256V |
probably benign |
Het |
| Pcbp4 |
G |
A |
9: 106,338,488 (GRCm39) |
A138T |
probably damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,881 (GRCm39) |
T255I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo3 |
T |
A |
9: 37,341,056 (GRCm39) |
D72V |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,360,716 (GRCm39) |
S300G |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,822,566 (GRCm39) |
R670W |
probably damaging |
Het |
| Smok3c |
C |
T |
5: 138,063,824 (GRCm39) |
T437I |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,672,333 (GRCm39) |
I931V |
probably benign |
Het |
| Syk |
T |
C |
13: 52,787,085 (GRCm39) |
Y383H |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,225,972 (GRCm39) |
S886T |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,545,594 (GRCm39) |
M321V |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,132,166 (GRCm39) |
L598P |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,219,456 (GRCm39) |
I648L |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,447,676 (GRCm39) |
K1126T |
probably benign |
Het |
| Zfp729b |
T |
C |
13: 67,739,617 (GRCm39) |
T883A |
possibly 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 |
|
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 |
|
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'- AATAAGCAGAACGTGTGGCTTATTG -3'
(R):5'- CACCTGCATCGTGTATCTCAG -3'
Sequencing Primer
(F):5'- ACGTGTGGCTTATTGGAAGAAG -3'
(R):5'- GCATCGTGTATCTCAGAAGTATAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation