Incidental Mutation 'R7495:Ice2'
ID |
581039 |
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 |
045568-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.800)
|
Stock # |
R7495 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
69305185-69340360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 69323511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 669
(V669L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034761]
|
AlphaFold |
Q3UZ18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034761
AA Change: V669L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000034761 Gene: ENSMUSG00000032235 AA Change: V669L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,915,871 (GRCm39) |
E1251G |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,913,963 (GRCm39) |
|
probably null |
Het |
Arap2 |
C |
T |
5: 62,833,893 (GRCm39) |
S858N |
possibly damaging |
Het |
Capn10 |
T |
C |
1: 92,871,092 (GRCm39) |
F301L |
probably damaging |
Het |
Catip |
T |
C |
1: 74,401,851 (GRCm39) |
W9R |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,183,112 (GRCm39) |
|
probably null |
Het |
Cpq |
C |
T |
15: 33,302,586 (GRCm39) |
R246C |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,816,239 (GRCm39) |
S1067P |
probably benign |
Het |
Dpp3 |
T |
C |
19: 4,967,941 (GRCm39) |
E316G |
probably damaging |
Het |
Dpp9 |
T |
C |
17: 56,502,044 (GRCm39) |
Q508R |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,424,258 (GRCm39) |
N3060D |
probably benign |
Het |
Fstl5 |
A |
G |
3: 76,615,099 (GRCm39) |
Y720C |
possibly damaging |
Het |
Gm28168 |
T |
C |
1: 117,875,637 (GRCm39) |
S89P |
possibly damaging |
Het |
Hk2 |
C |
T |
6: 82,704,346 (GRCm39) |
G900E |
probably damaging |
Het |
Hrh1 |
A |
C |
6: 114,457,634 (GRCm39) |
D305A |
probably benign |
Het |
Htt |
C |
T |
5: 34,968,821 (GRCm39) |
S435L |
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,500 (GRCm39) |
V191I |
probably benign |
Het |
Med12l |
A |
G |
3: 59,152,194 (GRCm39) |
K993R |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,622 (GRCm39) |
Y536H |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 57,002,171 (GRCm39) |
D94G |
possibly damaging |
Het |
Oit3 |
T |
C |
10: 59,259,765 (GRCm39) |
D546G |
possibly damaging |
Het |
Paxbp1 |
T |
C |
16: 90,813,837 (GRCm39) |
T847A |
probably damaging |
Het |
Pde12 |
A |
T |
14: 26,389,994 (GRCm39) |
N238K |
probably benign |
Het |
Pfkfb3 |
A |
C |
2: 11,487,312 (GRCm39) |
I366S |
probably damaging |
Het |
Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
Ptprb |
C |
A |
10: 116,177,353 (GRCm39) |
Q1018K |
probably benign |
Het |
Rxfp3 |
C |
A |
15: 11,036,011 (GRCm39) |
G454C |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,372,200 (GRCm39) |
V223A |
probably damaging |
Het |
Sema4c |
C |
A |
1: 36,589,774 (GRCm39) |
V527L |
probably benign |
Het |
Slk |
C |
A |
19: 47,627,417 (GRCm39) |
P1182T |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,659,235 (GRCm39) |
V368A |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,875,160 (GRCm39) |
F601L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,540,299 (GRCm39) |
D34229G |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,271 (GRCm39) |
H608R |
possibly damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,826 (GRCm39) |
C635* |
probably null |
Het |
Zfp473 |
A |
T |
7: 44,387,368 (GRCm39) |
F95Y |
probably benign |
Het |
Zfp984 |
A |
C |
4: 147,839,287 (GRCm39) |
S521R |
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 |
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'- GCCAAATTCTTCAGCACAGG -3'
(R):5'- GACTGTGATCCCCTCCATAAGC -3'
Sequencing Primer
(F):5'- ACAGGCTTCTGCAGGGAATC -3'
(R):5'- GCTTAGTAGCCCAGGTATATACC -3'
|
Posted On |
2019-10-17 |