Incidental Mutation 'R0078:Ice1'
| ID |
19573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
038365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70751467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1540
(R1540G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: R1540G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R1540G
| 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 |
0.0984 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
81% (203/250) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,129 (GRCm39) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,268,954 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,061,464 (GRCm39) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,512,030 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,550,301 (GRCm39) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,719,893 (GRCm39) |
N55K |
probably damaging |
Het |
| Cacng5 |
G |
T |
11: 107,768,259 (GRCm39) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,895,622 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,120,195 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,436,633 (GRCm39) |
R1054H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,173 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,803,981 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,611,816 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cstdc1 |
T |
A |
2: 148,627,745 (GRCm39) |
*131K |
probably null |
Het |
| Defb26 |
A |
C |
2: 152,349,988 (GRCm39) |
D97E |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,186,540 (GRCm39) |
N237D |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,379,993 (GRCm39) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,754,499 (GRCm39) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,419,310 (GRCm39) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,275 (GRCm39) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,080 (GRCm39) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,802,805 (GRCm39) |
D168N |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,566,952 (GRCm39) |
|
probably benign |
Het |
| Glmn |
C |
T |
5: 107,705,836 (GRCm39) |
V451I |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,988 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,270,169 (GRCm39) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,640 (GRCm39) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,724,185 (GRCm39) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,477 (GRCm39) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,351,501 (GRCm39) |
V243A |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,353 (GRCm39) |
S304T |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,517 (GRCm39) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,278,356 (GRCm39) |
L1686R |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,223,547 (GRCm39) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,469,812 (GRCm39) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,900,373 (GRCm39) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,789,146 (GRCm39) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,104,936 (GRCm39) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,422,702 (GRCm39) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,618,212 (GRCm39) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,524,795 (GRCm39) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,367,661 (GRCm39) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,358,977 (GRCm39) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,592 (GRCm39) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,290 (GRCm39) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,468,387 (GRCm39) |
E124G |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,121,516 (GRCm39) |
|
probably null |
Het |
| Nr4a2 |
T |
C |
2: 57,002,240 (GRCm39) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,100,789 (GRCm39) |
V193D |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,424 (GRCm39) |
S148T |
probably benign |
Het |
| Or10w1 |
G |
T |
19: 13,632,179 (GRCm39) |
V129F |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,180,092 (GRCm39) |
I207F |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,249 (GRCm39) |
I142F |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,701 (GRCm39) |
S69P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,793 (GRCm39) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,318,767 (GRCm39) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,775,344 (GRCm39) |
F489V |
possibly damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,625,068 (GRCm39) |
P849S |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,935,510 (GRCm39) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 16,761,650 (GRCm39) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,393 (GRCm39) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,405,988 (GRCm39) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 84,184,887 (GRCm39) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,734,973 (GRCm39) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,034,598 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,134,127 (GRCm39) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,881 (GRCm39) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,284,823 (GRCm39) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,255,870 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,943,448 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,647,487 (GRCm39) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,379 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,035,971 (GRCm39) |
I2149T |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,467,210 (GRCm39) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,091,363 (GRCm39) |
D32V |
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 |
|
|
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 |
|
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'- CTTGCTCAGAGTGTCAGGAGAACAG -3'
(R):5'- TGGTGCCCAGGAGGATATTTCCAG -3'
Sequencing Primer
(F):5'- TGTCAGGAGAACAGTTGGTGG -3'
(R):5'- GTGCCAACTTTGATAAGAGTCGTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation