Incidental Mutation 'R7650:Ice1'
| ID |
590784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
045727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R7650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70753602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 828
(Q828L)
|
| 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: Q828L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: Q828L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
G |
A |
7: 30,399,214 (GRCm39) |
V3I |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,903,067 (GRCm39) |
E59G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,293,202 (GRCm39) |
V45E |
probably benign |
Het |
| Ap1s1 |
A |
G |
5: 137,074,387 (GRCm39) |
S28P |
probably benign |
Het |
| Btnl2 |
T |
C |
17: 34,577,103 (GRCm39) |
L86P |
probably damaging |
Het |
| Carm1 |
G |
A |
9: 21,491,668 (GRCm39) |
V246I |
probably benign |
Het |
| Cdk5rap1 |
C |
T |
2: 154,196,036 (GRCm39) |
D283N |
probably benign |
Het |
| Cfap58 |
C |
A |
19: 47,974,967 (GRCm39) |
N709K |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,020,214 (GRCm39) |
D195G |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,543 (GRCm39) |
D220G |
probably benign |
Het |
| Ddias |
C |
T |
7: 92,508,143 (GRCm39) |
G591R |
probably benign |
Het |
| Defb22 |
A |
T |
2: 152,328,023 (GRCm39) |
I54K |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,176,056 (GRCm39) |
W202* |
probably null |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fanca |
A |
T |
8: 123,995,303 (GRCm39) |
|
probably null |
Het |
| Fezf2 |
T |
C |
14: 12,342,653 (GRCm38) |
H404R |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,336,883 (GRCm39) |
N1418S |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,732,161 (GRCm39) |
S776P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,260,978 (GRCm39) |
H1181R |
probably damaging |
Het |
| Gdf9 |
G |
A |
11: 53,327,925 (GRCm39) |
E294K |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
| Gm8206 |
T |
C |
14: 6,055,211 (GRCm38) |
|
probably null |
Het |
| Gpr162 |
T |
A |
6: 124,838,806 (GRCm39) |
|
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,143,539 (GRCm39) |
R363H |
probably benign |
Het |
| Hnrnph1 |
A |
T |
11: 50,274,726 (GRCm39) |
M396L |
probably benign |
Het |
| Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
| Il10 |
A |
T |
1: 130,949,192 (GRCm39) |
T118S |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,135,492 (GRCm39) |
R1813Q |
probably benign |
Het |
| Kbtbd12 |
T |
A |
6: 88,595,530 (GRCm39) |
Q100L |
probably damaging |
Het |
| Kin |
A |
G |
2: 10,096,979 (GRCm39) |
D276G |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,584,379 (GRCm39) |
T284A |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,748,751 (GRCm39) |
A2858T |
unknown |
Het |
| Krt8 |
G |
A |
15: 101,912,598 (GRCm39) |
T26M |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,670,895 (GRCm39) |
M827K |
probably benign |
Het |
| Lingo3 |
T |
C |
10: 80,671,597 (GRCm39) |
N111S |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,172,128 (GRCm39) |
V263A |
probably damaging |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,363,159 (GRCm39) |
T2157A |
unknown |
Het |
| Myo1d |
G |
T |
11: 80,492,510 (GRCm39) |
H748Q |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,638,202 (GRCm39) |
N419K |
probably benign |
Het |
| Nol10 |
T |
C |
12: 17,412,683 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,594,105 (GRCm39) |
L284P |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,224,495 (GRCm39) |
W753R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,951,820 (GRCm39) |
S3978P |
probably benign |
Het |
| Opa3 |
C |
A |
7: 18,978,896 (GRCm39) |
N120K |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,416 (GRCm39) |
R173* |
probably null |
Het |
| Or8g53 |
A |
T |
9: 39,683,169 (GRCm39) |
F309Y |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,891,510 (GRCm39) |
L576S |
probably benign |
Het |
| Panx3 |
A |
G |
9: 37,572,701 (GRCm39) |
L283S |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,667 (GRCm39) |
V659E |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,606,423 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,399,217 (GRCm39) |
V2200A |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,662,283 (GRCm39) |
M112I |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,220,078 (GRCm39) |
I683T |
possibly damaging |
Het |
| Psg22 |
C |
A |
7: 18,460,684 (GRCm39) |
Q438K |
possibly damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,876 (GRCm39) |
V56A |
possibly damaging |
Het |
| Pus7 |
G |
T |
5: 23,965,244 (GRCm39) |
T304K |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Ros1 |
C |
T |
10: 51,922,305 (GRCm39) |
G2277D |
probably benign |
Het |
| Rpain |
A |
T |
11: 70,861,271 (GRCm39) |
|
probably benign |
Het |
| Shh |
C |
A |
5: 28,663,304 (GRCm39) |
S288I |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,039,328 (GRCm39) |
V259M |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,618,363 (GRCm39) |
N771I |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,078,034 (GRCm39) |
S179T |
|
Het |
| Syk |
A |
G |
13: 52,765,131 (GRCm39) |
D86G |
probably benign |
Het |
| Tmem132b |
T |
G |
5: 125,864,074 (GRCm39) |
S727A |
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,853,377 (GRCm39) |
D1799V |
possibly damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,734 (GRCm39) |
I839N |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,831 (GRCm39) |
I404T |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,843,568 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,045,114 (GRCm39) |
I273K |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,147 (GRCm39) |
I274L |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,677,851 (GRCm39) |
D945G |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,774,580 (GRCm39) |
L31P |
probably damaging |
Het |
| Zfp536 |
C |
A |
7: 37,269,117 (GRCm39) |
V100L |
probably damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,818 (GRCm39) |
S270R |
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 |
|
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 |
70,737,916 (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'- TTTCGCCAAGACACAGATACTTC -3'
(R):5'- GATGTCCTAAGGCGAGGTAGTG -3'
Sequencing Primer
(F):5'- GCTATCTGCTCTGGGACCTG -3'
(R):5'- AGGTAGTGGGGGTAGCCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation