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: 0.946)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70551707-70637634 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70603348 bp (GRCm38)
|
| 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 |
|---|
| 8030411F24Rik |
T |
A |
2: 148,785,825 (GRCm38) |
*131K |
probably null |
Het |
| Abcb5 |
T |
A |
12: 118,927,394 (GRCm38) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 35,958,062 (GRCm38) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,179,411 (GRCm38) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,535,069 (GRCm38) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,844,664 (GRCm38) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,889,549 (GRCm38) |
N55K |
probably damaging |
Het |
| C77080 |
T |
C |
4: 129,227,723 (GRCm38) |
|
probably null |
Het |
| Cacng5 |
G |
T |
11: 107,877,433 (GRCm38) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,757,559 (GRCm38) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,035,738 (GRCm38) |
|
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,264,545 (GRCm38) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,974,913 (GRCm38) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,454,473 (GRCm38) |
D148V |
possibly damaging |
Het |
| Defb26 |
A |
C |
2: 152,508,068 (GRCm38) |
D97E |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,136,541 (GRCm38) |
N237D |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,196,017 (GRCm38) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,621,442 (GRCm38) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,583,441 (GRCm38) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 43,225,851 (GRCm38) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 44,953,299 (GRCm38) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,888,931 (GRCm38) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 130,201,075 (GRCm38) |
D168N |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,659,645 (GRCm38) |
|
probably benign |
Het |
| Glmn |
C |
T |
5: 107,557,970 (GRCm38) |
V451I |
probably benign |
Het |
| Gm8909 |
A |
T |
17: 36,165,461 (GRCm38) |
S304T |
possibly damaging |
Het |
| Gm9938 |
T |
A |
19: 23,724,624 (GRCm38) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,428,249 (GRCm38) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,711,641 (GRCm38) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 88,074,977 (GRCm38) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,159,703 (GRCm38) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,040,609 (GRCm38) |
V243A |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,156,041 (GRCm38) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,388,344 (GRCm38) |
L1686R |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,259,927 (GRCm38) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,578,985 (GRCm38) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 119,069,892 (GRCm38) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,947,226 (GRCm38) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,229,190 (GRCm38) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,203,728 (GRCm38) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,734,009 (GRCm38) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,633,969 (GRCm38) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,473,868 (GRCm38) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,759,805 (GRCm38) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,268,818 (GRCm38) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,187,464 (GRCm38) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,540,665 (GRCm38) |
E124G |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,112,228 (GRCm38) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 55,863,332 (GRCm38) |
V193D |
probably damaging |
Het |
| Olfr1280 |
A |
T |
2: 111,315,904 (GRCm38) |
I142F |
probably benign |
Het |
| Olfr1331 |
T |
A |
4: 118,869,227 (GRCm38) |
S148T |
probably benign |
Het |
| Olfr1490 |
G |
T |
19: 13,654,815 (GRCm38) |
V129F |
probably benign |
Het |
| Olfr215 |
A |
G |
6: 116,582,740 (GRCm38) |
S69P |
probably damaging |
Het |
| Olfr59 |
A |
T |
11: 74,289,266 (GRCm38) |
I207F |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,756,344 (GRCm38) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,669,559 (GRCm38) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,798,410 (GRCm38) |
F489V |
possibly damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,575,032 (GRCm38) |
P849S |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,989,784 (GRCm38) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 17,027,725 (GRCm38) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,590,170 (GRCm38) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,534,855 (GRCm38) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,515,162 (GRCm38) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 83,458,258 (GRCm38) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,282,321 (GRCm38) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,207,032 (GRCm38) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,292,207 (GRCm38) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,255,961 (GRCm38) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,448,961 (GRCm38) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,365,895 (GRCm38) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,328,148 (GRCm38) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,966,485 (GRCm38) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,818,895 (GRCm38) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,817,006 (GRCm38) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,556,209 (GRCm38) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,888,105 (GRCm38) |
I2149T |
possibly damaging |
Het |
| Wdr66 |
G |
A |
5: 123,298,570 (GRCm38) |
R1054H |
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,868,038 (GRCm38) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,093,101 (GRCm38) |
D32V |
probably damaging |
Het |
|
| Other mutations in Ice1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ice1
|
APN |
13 |
70,602,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01155:Ice1
|
APN |
13 |
70,604,082 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01298:Ice1
|
APN |
13 |
70,604,904 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01797:Ice1
|
APN |
13 |
70,623,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02423:Ice1
|
APN |
13 |
70,592,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02583:Ice1
|
APN |
13 |
70,605,735 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02794:Ice1
|
APN |
13 |
70,609,159 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02882:Ice1
|
APN |
13 |
70,624,474 (GRCm38) |
splice site |
probably benign |
|
|
IGL02929:Ice1
|
APN |
13 |
70,596,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03343:Ice1
|
APN |
13 |
70,602,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03384:Ice1
|
APN |
13 |
70,603,249 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4651001:Ice1
|
UTSW |
13 |
70,623,921 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0081:Ice1
|
UTSW |
13 |
70,619,044 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Ice1
|
UTSW |
13 |
70,604,047 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R0557:Ice1
|
UTSW |
13 |
70,601,191 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0973:Ice1
|
UTSW |
13 |
70,602,427 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0973:Ice1
|
UTSW |
13 |
70,602,427 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0974:Ice1
|
UTSW |
13 |
70,602,427 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1033:Ice1
|
UTSW |
13 |
70,606,594 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1371:Ice1
|
UTSW |
13 |
70,596,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1525:Ice1
|
UTSW |
13 |
70,605,410 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1539:Ice1
|
UTSW |
13 |
70,605,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1596:Ice1
|
UTSW |
13 |
70,604,895 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1603:Ice1
|
UTSW |
13 |
70,603,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1680:Ice1
|
UTSW |
13 |
70,605,448 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1737:Ice1
|
UTSW |
13 |
70,606,325 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Ice1
|
UTSW |
13 |
70,604,442 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1774:Ice1
|
UTSW |
13 |
70,604,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Ice1
|
UTSW |
13 |
70,615,338 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1840:Ice1
|
UTSW |
13 |
70,606,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1898:Ice1
|
UTSW |
13 |
70,602,307 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1930:Ice1
|
UTSW |
13 |
70,605,083 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2000:Ice1
|
UTSW |
13 |
70,602,427 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R2106:Ice1
|
UTSW |
13 |
70,605,622 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2293:Ice1
|
UTSW |
13 |
70,614,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2377:Ice1
|
UTSW |
13 |
70,602,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2909:Ice1
|
UTSW |
13 |
70,596,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2965:Ice1
|
UTSW |
13 |
70,602,578 (GRCm38) |
missense |
probably benign |
0.31 |
|
R3730:Ice1
|
UTSW |
13 |
70,603,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3886:Ice1
|
UTSW |
13 |
70,605,370 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3914:Ice1
|
UTSW |
13 |
70,606,084 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4051:Ice1
|
UTSW |
13 |
70,603,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4321:Ice1
|
UTSW |
13 |
70,603,110 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4499:Ice1
|
UTSW |
13 |
70,609,027 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4729:Ice1
|
UTSW |
13 |
70,606,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5078:Ice1
|
UTSW |
13 |
70,604,850 (GRCm38) |
missense |
probably benign |
|
|
R5431:Ice1
|
UTSW |
13 |
70,592,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5722:Ice1
|
UTSW |
13 |
70,615,100 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5881:Ice1
|
UTSW |
13 |
70,606,501 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5914:Ice1
|
UTSW |
13 |
70,606,377 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6171:Ice1
|
UTSW |
13 |
70,606,731 (GRCm38) |
missense |
probably benign |
|
|
R6253:Ice1
|
UTSW |
13 |
70,603,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6274:Ice1
|
UTSW |
13 |
70,594,839 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6518:Ice1
|
UTSW |
13 |
70,606,309 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6665:Ice1
|
UTSW |
13 |
70,603,473 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6714:Ice1
|
UTSW |
13 |
70,615,263 (GRCm38) |
splice site |
probably null |
|
|
R6853:Ice1
|
UTSW |
13 |
70,603,302 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6917:Ice1
|
UTSW |
13 |
70,594,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7032:Ice1
|
UTSW |
13 |
70,596,164 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7176:Ice1
|
UTSW |
13 |
70,624,406 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7352:Ice1
|
UTSW |
13 |
70,606,102 (GRCm38) |
nonsense |
probably null |
|
|
R7445:Ice1
|
UTSW |
13 |
70,596,167 (GRCm38) |
missense |
|
|
|
R7646:Ice1
|
UTSW |
13 |
70,589,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7647:Ice1
|
UTSW |
13 |
70,589,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7648:Ice1
|
UTSW |
13 |
70,589,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7650:Ice1
|
UTSW |
13 |
70,605,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7650:Ice1
|
UTSW |
13 |
70,589,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7812:Ice1
|
UTSW |
13 |
70,603,005 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8061:Ice1
|
UTSW |
13 |
70,603,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8129:Ice1
|
UTSW |
13 |
70,606,201 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8283:Ice1
|
UTSW |
13 |
70,604,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8303:Ice1
|
UTSW |
13 |
70,606,407 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8444:Ice1
|
UTSW |
13 |
70,604,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8474:Ice1
|
UTSW |
13 |
70,604,447 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8751:Ice1
|
UTSW |
13 |
70,602,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8887:Ice1
|
UTSW |
13 |
70,602,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8911:Ice1
|
UTSW |
13 |
70,592,668 (GRCm38) |
missense |
|
|
|
R8954:Ice1
|
UTSW |
13 |
70,610,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9345:Ice1
|
UTSW |
13 |
70,592,639 (GRCm38) |
missense |
|
|
|
R9438:Ice1
|
UTSW |
13 |
70,606,315 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9452:Ice1
|
UTSW |
13 |
70,596,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Ice1
|
UTSW |
13 |
70,592,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Ice1
|
UTSW |
13 |
70,605,201 (GRCm38) |
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