Incidental Mutation 'R2915:Ice2'
| ID |
254852 |
| 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 |
040502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R2915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69318122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
[ENSMUST00000117246]
[ENSMUST00000117610]
[ENSMUST00000125938]
[ENSMUST00000145538]
|
| AlphaFold |
Q3UZ18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: D241G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: D241G
| 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 |
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 |
0.0809 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
| Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
| Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
| Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
| Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
| Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
| Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
| Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
| Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
| Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
| Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
| Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
| Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
| Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
| Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
| Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
| Zzef1 |
G |
A |
11: 72,801,152 (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 |
|
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'- GAGGAGGTTCTAAGATTGACATCTG -3'
(R):5'- TGTTAGAACAACCAGGATTCATGC -3'
Sequencing Primer
(F):5'- AGGGCAGTGCAAAGTTT -3'
(R):5'- GGCTGGTCTCAAACTCAGAAATTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation