Incidental Mutation 'R1766:Ice1'
| ID |
194399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
039798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R1766 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70752561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1175
(E1175G)
|
| 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: E1175G
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: E1175G
| 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
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
C |
10: 42,330,491 (GRCm39) |
T59A |
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,412,656 (GRCm39) |
M1223L |
possibly damaging |
Het |
| Ankrd24 |
G |
A |
10: 81,474,472 (GRCm39) |
S68N |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,445,952 (GRCm39) |
I131T |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,029,836 (GRCm39) |
I874F |
probably damaging |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| BC051665 |
G |
A |
13: 60,932,854 (GRCm39) |
H36Y |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,392 (GRCm39) |
D69G |
probably damaging |
Het |
| Chd6 |
G |
A |
2: 160,808,559 (GRCm39) |
L1552F |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,556,191 (GRCm39) |
H584R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,179 (GRCm39) |
V1508I |
possibly damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,015,526 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,434 (GRCm39) |
V1303A |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,704 (GRCm39) |
E182K |
probably damaging |
Het |
| Fam170b |
A |
T |
14: 32,557,843 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Fam193a |
C |
T |
5: 34,619,475 (GRCm39) |
P760L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,157,796 (GRCm39) |
L6H |
probably benign |
Het |
| Gabrq |
G |
A |
X: 71,876,989 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm7334 |
T |
A |
17: 51,006,006 (GRCm39) |
D97E |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,395 (GRCm39) |
A286T |
probably damaging |
Het |
| Gsta4 |
C |
A |
9: 78,111,611 (GRCm39) |
Y79* |
probably null |
Het |
| Hcn1 |
T |
A |
13: 117,793,270 (GRCm39) |
V174D |
probably benign |
Het |
| Hic1 |
G |
T |
11: 75,056,620 (GRCm39) |
C756* |
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,953,868 (GRCm39) |
T728I |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,338,598 (GRCm39) |
L304Q |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,235 (GRCm39) |
D90G |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,702,363 (GRCm39) |
G500D |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,535,119 (GRCm39) |
K156E |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,531,927 (GRCm39) |
K94E |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,918,060 (GRCm39) |
S26P |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,147,121 (GRCm39) |
Q1589K |
possibly damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,076,113 (GRCm39) |
V671E |
probably benign |
Het |
| Nop9 |
C |
T |
14: 55,989,591 (GRCm39) |
A407V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,323,474 (GRCm39) |
H1366L |
probably damaging |
Het |
| Ntrk1 |
A |
T |
3: 87,685,825 (GRCm39) |
C766S |
probably damaging |
Het |
| Oog3 |
C |
T |
4: 143,885,692 (GRCm39) |
G302D |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,583,677 (GRCm39) |
Y43C |
probably damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Or6c38 |
T |
C |
10: 128,929,616 (GRCm39) |
I76V |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,250,154 (GRCm39) |
T133A |
probably benign |
Het |
| Pdzph1 |
C |
T |
17: 59,280,747 (GRCm39) |
V512I |
probably benign |
Het |
| Phf2 |
A |
C |
13: 48,973,033 (GRCm39) |
S408A |
unknown |
Het |
| Pigk |
T |
G |
3: 152,445,793 (GRCm39) |
L135V |
probably damaging |
Het |
| Ppp2ca |
C |
A |
11: 52,012,773 (GRCm39) |
T301N |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,024,741 (GRCm39) |
S253P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,957,438 (GRCm39) |
I712N |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,325,976 (GRCm39) |
D769E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,615,887 (GRCm39) |
C134S |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Scube1 |
T |
A |
15: 83,606,146 (GRCm39) |
D42V |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,446 (GRCm39) |
D39G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,689 (GRCm39) |
T397A |
probably benign |
Het |
| Siglece |
G |
A |
7: 43,300,956 (GRCm39) |
T453M |
probably damaging |
Het |
| Slc26a1 |
G |
A |
5: 108,819,658 (GRCm39) |
R514W |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,685,093 (GRCm39) |
V156A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,698,374 (GRCm39) |
V1134E |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,592,314 (GRCm39) |
W326C |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,150,782 (GRCm39) |
Y22H |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,439,470 (GRCm39) |
H80L |
probably damaging |
Het |
| Tmem71 |
T |
A |
15: 66,413,548 (GRCm39) |
T175S |
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,681,090 (GRCm39) |
V338D |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,240,004 (GRCm39) |
K445R |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,522,039 (GRCm39) |
F213L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,768 (GRCm39) |
S550T |
probably benign |
Het |
| Tufm |
A |
G |
7: 126,089,644 (GRCm39) |
D446G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,490,485 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,740 (GRCm39) |
I825L |
probably damaging |
Het |
| Vmn2r12 |
G |
T |
5: 109,239,910 (GRCm39) |
Q218K |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,242,919 (GRCm39) |
|
probably null |
Het |
| Ywhae |
T |
C |
11: 75,646,491 (GRCm39) |
V119A |
probably damaging |
Het |
| Zfand5 |
A |
G |
19: 21,257,888 (GRCm39) |
R199G |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,637 (GRCm39) |
D137G |
probably benign |
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 |
|
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 |
|
R5914:Ice1
|
UTSW |
13 |
70,754,496 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TCAGATGGCACTTCCAGAGGACAC -3'
(R):5'- TGCTACACAGGTATCAGAGAGCGG -3'
Sequencing Primer
(F):5'- CTTCCAGAGGACACTGAGC -3'
(R):5'- GACTCACATAGACCTTTGGGAGAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation