Incidental Mutation 'R5914:Ice1'
| ID |
461225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
044111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R5914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70754496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 530
(F530S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043493
AA Change: F530S
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: F530S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1329 |
1352 |
N/A |
INTRINSIC |
|
low complexity region
|
1595 |
1604 |
N/A |
INTRINSIC |
|
low complexity region
|
1656 |
1671 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
2026 |
2223 |
5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222627
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (87/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,410,219 (GRCm39) |
R286H |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,828,774 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
G |
A |
5: 102,700,025 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
T |
C |
3: 88,543,176 (GRCm39) |
Y396H |
probably benign |
Het |
| Asap3 |
G |
T |
4: 135,968,720 (GRCm39) |
G722C |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,857,343 (GRCm39) |
*377E |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,803,174 (GRCm39) |
Q282K |
possibly damaging |
Het |
| Cdkl4 |
C |
T |
17: 80,855,120 (GRCm39) |
|
probably null |
Het |
| Cep97 |
T |
C |
16: 55,725,820 (GRCm39) |
N689S |
probably benign |
Het |
| Cfap97 |
T |
G |
8: 46,634,895 (GRCm39) |
S407A |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,063,967 (GRCm39) |
N436K |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,797,421 (GRCm39) |
|
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,751,616 (GRCm39) |
T469A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,703,922 (GRCm39) |
I2275F |
unknown |
Het |
| Ctdspl2 |
A |
T |
2: 121,809,414 (GRCm39) |
N122Y |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,724 (GRCm39) |
C602S |
probably benign |
Het |
| Dda1 |
T |
A |
8: 71,927,294 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,609,888 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,750,990 (GRCm39) |
N253I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,002,847 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,209,525 (GRCm39) |
Y68* |
probably null |
Het |
| Fbln5 |
T |
G |
12: 101,727,002 (GRCm39) |
D329A |
possibly damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,246,047 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
C |
G |
2: 90,605,137 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
C |
A |
17: 88,770,138 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,920,012 (GRCm39) |
D448G |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,199 (GRCm39) |
Y562C |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,748,194 (GRCm39) |
|
silent |
Het |
| Gm6003 |
A |
G |
7: 32,864,691 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl3 |
C |
A |
14: 30,738,853 (GRCm39) |
E65D |
possibly damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hk2 |
C |
T |
6: 82,713,615 (GRCm39) |
R461K |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,968,904 (GRCm39) |
S129T |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,288,697 (GRCm39) |
S3L |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,113,000 (GRCm39) |
Q839H |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,849,280 (GRCm39) |
M247T |
probably benign |
Het |
| Kpna6 |
T |
C |
4: 129,566,485 (GRCm39) |
|
probably benign |
Het |
| Krtap28-13 |
T |
A |
1: 83,039,044 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
A |
2: 109,748,617 (GRCm39) |
V51E |
possibly damaging |
Het |
| Map3k5 |
A |
C |
10: 19,980,001 (GRCm39) |
E836D |
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,038 (GRCm39) |
I193V |
probably benign |
Het |
| Marchf10 |
A |
T |
11: 105,276,308 (GRCm39) |
V660E |
probably damaging |
Het |
| Matn4 |
T |
C |
2: 164,235,144 (GRCm39) |
E435G |
probably damaging |
Het |
| Mre11a |
G |
T |
9: 14,723,232 (GRCm39) |
R402M |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,034,868 (GRCm39) |
G428R |
probably damaging |
Het |
| Ndufv3 |
C |
T |
17: 31,750,206 (GRCm39) |
R99* |
probably null |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,847 (GRCm39) |
S85N |
unknown |
Het |
| Nop2 |
A |
T |
6: 125,111,691 (GRCm39) |
E141D |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,326 (GRCm39) |
H131R |
probably benign |
Het |
| Or8b1 |
G |
C |
9: 38,399,657 (GRCm39) |
E111Q |
probably damaging |
Het |
| Paox |
T |
C |
7: 139,709,101 (GRCm39) |
S205P |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,466,768 (GRCm39) |
V995A |
probably benign |
Het |
| Pdcd1 |
T |
A |
1: 93,968,550 (GRCm39) |
K161N |
probably benign |
Het |
| Pfkfb2 |
C |
A |
1: 130,627,832 (GRCm39) |
V372L |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,622,948 (GRCm39) |
T19I |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,599,477 (GRCm39) |
V198L |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,342,753 (GRCm39) |
L41* |
probably null |
Het |
| Postn |
C |
T |
3: 54,281,221 (GRCm39) |
Q449* |
probably null |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,988 (GRCm39) |
S642N |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,214,511 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,283,684 (GRCm39) |
N923S |
possibly damaging |
Het |
| Rai1 |
T |
C |
11: 60,078,630 (GRCm39) |
V898A |
probably benign |
Het |
| Rasgef1a |
A |
T |
6: 118,057,515 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,580 (GRCm39) |
V329A |
probably damaging |
Het |
| Slc24a4 |
T |
A |
12: 102,201,049 (GRCm39) |
I311N |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,713,997 (GRCm39) |
L749F |
possibly damaging |
Het |
| Spon1 |
G |
A |
7: 113,630,056 (GRCm39) |
D428N |
probably damaging |
Het |
| Tcf7l2 |
G |
A |
19: 55,886,992 (GRCm39) |
E2K |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,870,416 (GRCm39) |
M472V |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,528,213 (GRCm39) |
Y121H |
probably damaging |
Het |
| Tmc4 |
T |
A |
7: 3,675,008 (GRCm39) |
D221V |
probably benign |
Het |
| Trim30b |
A |
T |
7: 104,006,572 (GRCm39) |
S95T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,741,179 (GRCm39) |
E571G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,781,656 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
T |
9: 113,785,807 (GRCm39) |
R161W |
probably benign |
Het |
| Usp21 |
G |
A |
1: 171,109,745 (GRCm39) |
|
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,529 (GRCm39) |
R262W |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,801,044 (GRCm39) |
D297E |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,653,038 (GRCm39) |
L784S |
probably benign |
Het |
| Vwc2 |
G |
A |
11: 11,104,244 (GRCm39) |
V259M |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,064 (GRCm39) |
I596M |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,672 (GRCm39) |
L97H |
probably damaging |
Het |
|
| Other mutations in Ice1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ice1
|
APN |
13 |
70,750,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Ice1
|
APN |
13 |
70,752,201 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01298:Ice1
|
APN |
13 |
70,753,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01797:Ice1
|
APN |
13 |
70,772,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Ice1
|
APN |
13 |
70,740,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Ice1
|
APN |
13 |
70,753,854 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02794:Ice1
|
APN |
13 |
70,757,278 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02882:Ice1
|
APN |
13 |
70,772,593 (GRCm39) |
splice site |
probably benign |
|
|
IGL02929:Ice1
|
APN |
13 |
70,744,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Ice1
|
APN |
13 |
70,751,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Ice1
|
APN |
13 |
70,751,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4651001:Ice1
|
UTSW |
13 |
70,772,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0078:Ice1
|
UTSW |
13 |
70,751,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0081:Ice1
|
UTSW |
13 |
70,767,163 (GRCm39) |
nonsense |
probably null |
|
|
R0281:Ice1
|
UTSW |
13 |
70,752,166 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0557:Ice1
|
UTSW |
13 |
70,749,310 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0973:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0974:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1033:Ice1
|
UTSW |
13 |
70,754,713 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1371:Ice1
|
UTSW |
13 |
70,744,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Ice1
|
UTSW |
13 |
70,753,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1539:Ice1
|
UTSW |
13 |
70,754,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Ice1
|
UTSW |
13 |
70,753,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1603:Ice1
|
UTSW |
13 |
70,751,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1680:Ice1
|
UTSW |
13 |
70,753,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1737:Ice1
|
UTSW |
13 |
70,754,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Ice1
|
UTSW |
13 |
70,752,561 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1774:Ice1
|
UTSW |
13 |
70,752,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Ice1
|
UTSW |
13 |
70,763,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Ice1
|
UTSW |
13 |
70,754,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1898:Ice1
|
UTSW |
13 |
70,750,426 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1930:Ice1
|
UTSW |
13 |
70,753,202 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2000:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2106:Ice1
|
UTSW |
13 |
70,753,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2293:Ice1
|
UTSW |
13 |
70,763,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Ice1
|
UTSW |
13 |
70,750,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Ice1
|
UTSW |
13 |
70,744,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Ice1
|
UTSW |
13 |
70,750,697 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3730:Ice1
|
UTSW |
13 |
70,751,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Ice1
|
UTSW |
13 |
70,753,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3914:Ice1
|
UTSW |
13 |
70,754,203 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4051:Ice1
|
UTSW |
13 |
70,751,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Ice1
|
UTSW |
13 |
70,751,229 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4499:Ice1
|
UTSW |
13 |
70,757,146 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4729:Ice1
|
UTSW |
13 |
70,754,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Ice1
|
UTSW |
13 |
70,752,969 (GRCm39) |
missense |
probably benign |
|
|
R5431:Ice1
|
UTSW |
13 |
70,740,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Ice1
|
UTSW |
13 |
70,763,219 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5881:Ice1
|
UTSW |
13 |
70,754,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6171:Ice1
|
UTSW |
13 |
70,754,850 (GRCm39) |
missense |
probably benign |
|
|
R6253:Ice1
|
UTSW |
13 |
70,751,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Ice1
|
UTSW |
13 |
70,742,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6518:Ice1
|
UTSW |
13 |
70,754,428 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6665:Ice1
|
UTSW |
13 |
70,751,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6714:Ice1
|
UTSW |
13 |
70,763,382 (GRCm39) |
splice site |
probably null |
|
|
R6853:Ice1
|
UTSW |
13 |
70,751,421 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6917:Ice1
|
UTSW |
13 |
70,743,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Ice1
|
UTSW |
13 |
70,744,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7176:Ice1
|
UTSW |
13 |
70,772,525 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7352:Ice1
|
UTSW |
13 |
70,754,221 (GRCm39) |
nonsense |
probably null |
|
|
R7445:Ice1
|
UTSW |
13 |
70,744,286 (GRCm39) |
missense |
|
|
|
R7646:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7647:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7648:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7650:Ice1
|
UTSW |
13 |
70,753,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7812:Ice1
|
UTSW |
13 |
70,751,124 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8061:Ice1
|
UTSW |
13 |
70,751,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Ice1
|
UTSW |
13 |
70,754,320 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8283:Ice1
|
UTSW |
13 |
70,752,549 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8303:Ice1
|
UTSW |
13 |
70,754,526 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8444:Ice1
|
UTSW |
13 |
70,752,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Ice1
|
UTSW |
13 |
70,752,566 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8751:Ice1
|
UTSW |
13 |
70,751,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Ice1
|
UTSW |
13 |
70,751,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Ice1
|
UTSW |
13 |
70,740,787 (GRCm39) |
missense |
|
|
|
R8954:Ice1
|
UTSW |
13 |
70,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Ice1
|
UTSW |
13 |
70,740,758 (GRCm39) |
missense |
|
|
|
R9438:Ice1
|
UTSW |
13 |
70,754,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9452:Ice1
|
UTSW |
13 |
70,744,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ice1
|
UTSW |
13 |
70,740,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ice1
|
UTSW |
13 |
70,753,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGCCTGACTGGGGAGTG -3'
(R):5'- TCATCTGAATTTGTGAGGGACAG -3'
Sequencing Primer
(F):5'- AGTGGACTCCCGCACATCTC -3'
(R):5'- TCTGAATTTGTGAGGGACAGAGGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation