Incidental Mutation 'R2106:Ice1'
| ID |
231003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
040110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R2106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70753741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 782
(Y782H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043493
AA Change: Y782H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: Y782H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,992,837 (GRCm39) |
F650S |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,828,564 (GRCm39) |
L95Q |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,885,228 (GRCm39) |
T22A |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Ccdc40 |
G |
T |
11: 119,155,123 (GRCm39) |
R1121L |
probably damaging |
Het |
| Cdhr4 |
A |
C |
9: 107,874,693 (GRCm39) |
S588R |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,645,979 (GRCm39) |
N517D |
probably benign |
Het |
| Chrm2 |
T |
C |
6: 36,500,382 (GRCm39) |
Y80H |
probably damaging |
Het |
| Cimip2a |
A |
G |
2: 25,110,663 (GRCm39) |
Y157C |
probably damaging |
Het |
| Csgalnact2 |
G |
T |
6: 118,086,090 (GRCm39) |
Y534* |
probably null |
Het |
| Defb35 |
A |
G |
8: 22,430,809 (GRCm39) |
E61G |
unknown |
Het |
| Dhx15 |
A |
T |
5: 52,327,428 (GRCm39) |
D95E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,792 (GRCm39) |
V271A |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,631,574 (GRCm39) |
S444P |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,825,686 (GRCm39) |
N406K |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,810,230 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,717,152 (GRCm39) |
I56T |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,034,578 (GRCm39) |
Y1442* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,147,390 (GRCm39) |
T3951A |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,255,674 (GRCm39) |
S786P |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,769 (GRCm39) |
T224A |
probably benign |
Het |
| Ginm1 |
A |
T |
10: 7,651,090 (GRCm39) |
F105L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,426,939 (GRCm39) |
V688A |
probably benign |
Het |
| Hnmt |
T |
G |
2: 23,909,130 (GRCm39) |
Q94H |
probably benign |
Het |
| Immt |
T |
C |
6: 71,848,499 (GRCm39) |
V418A |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Krt84 |
T |
C |
15: 101,439,301 (GRCm39) |
N248D |
probably damaging |
Het |
| Lig1 |
C |
A |
7: 13,039,863 (GRCm39) |
R692S |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,011,356 (GRCm39) |
A438S |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,887,054 (GRCm39) |
V1204I |
probably damaging |
Het |
| Med21 |
G |
T |
6: 146,550,710 (GRCm39) |
D74Y |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,506 (GRCm39) |
D209G |
probably benign |
Het |
| Nipal1 |
C |
A |
5: 72,820,902 (GRCm39) |
F132L |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,644,329 (GRCm39) |
I613F |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,617,073 (GRCm39) |
T706A |
probably benign |
Het |
| Or5w1b |
A |
G |
2: 87,475,895 (GRCm39) |
S191P |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,503 (GRCm39) |
E196G |
probably benign |
Het |
| Pam |
A |
G |
1: 97,759,215 (GRCm39) |
V823A |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,011,565 (GRCm39) |
Y93N |
probably damaging |
Het |
| Perm1 |
T |
C |
4: 156,303,336 (GRCm39) |
W627R |
probably damaging |
Het |
| Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
| Prmt5 |
T |
C |
14: 54,745,374 (GRCm39) |
I598V |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,351,369 (GRCm39) |
I48V |
probably damaging |
Het |
| Rad51d |
T |
A |
11: 82,770,134 (GRCm39) |
K261N |
probably damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,559,512 (GRCm39) |
I1050S |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,468,474 (GRCm39) |
E4688G |
probably damaging |
Het |
| Siva1 |
G |
T |
12: 112,613,440 (GRCm39) |
R96L |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,264,799 (GRCm39) |
N140S |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,028,542 (GRCm39) |
D342V |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,878,506 (GRCm39) |
S208P |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,443,250 (GRCm39) |
T1899N |
possibly damaging |
Het |
| Sytl1 |
T |
C |
4: 132,984,774 (GRCm39) |
D200G |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,569 (GRCm39) |
N164S |
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,692 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,377,076 (GRCm39) |
M140T |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,532,396 (GRCm39) |
F352S |
probably benign |
Het |
| Tmem88 |
A |
G |
11: 69,288,685 (GRCm39) |
L78P |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,274 (GRCm39) |
S515P |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,714 (GRCm39) |
E583V |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,342 (GRCm39) |
C91R |
probably damaging |
Het |
| Ubap1l |
T |
C |
9: 65,281,089 (GRCm39) |
S256P |
probably benign |
Het |
| Vmn1r26 |
T |
G |
6: 57,985,710 (GRCm39) |
S160R |
possibly damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,100 (GRCm39) |
S785G |
probably damaging |
Het |
| Wdr27 |
T |
G |
17: 15,141,116 (GRCm39) |
R278S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,911,109 (GRCm39) |
S834P |
probably damaging |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,814 (GRCm39) |
C116Y |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,466 (GRCm39) |
F22L |
probably benign |
Het |
| Zfp948 |
G |
T |
17: 21,807,953 (GRCm39) |
E382* |
probably null |
Het |
| Zfp956 |
T |
A |
6: 47,941,359 (GRCm39) |
*573K |
probably null |
Het |
| Zim1 |
T |
G |
7: 6,681,073 (GRCm39) |
T197P |
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 |
|
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 |
|
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'- TCAGTGTGTTCCCATGTGGC -3'
(R):5'- GTATTTCCGAAGCCAACAGGAG -3'
Sequencing Primer
(F):5'- TTCCCATGTGGCTGCCAG -3'
(R):5'- GTGGACAGTGTAAAGGCCG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation