Incidental Mutation 'R6632:Ice2'
| ID |
525227 |
| 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 |
044754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R6632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69335734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 906
(S906P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
|
| AlphaFold |
Q3UZ18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: S906P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: S906P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
| Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
| Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,281,583 (GRCm39) |
V206A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
| Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
| Msh2 |
A |
C |
17: 88,020,094 (GRCm39) |
K567Q |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
| Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,271,438 (GRCm39) |
F70I |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGTAGCAGCTCAGTTTTGCTC -3'
(R):5'- TGCACACATACAGCAAGTAGAG -3'
Sequencing Primer
(F):5'- TGAGATTGGCACCATAAACCTG -3'
(R):5'- GCACACATACAGCAAGTAGAGAACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation