Incidental Mutation 'R8911:Ice1'
| ID |
678646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
068764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R8911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70551707-70637634 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70592668 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 70
(R70Q)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: R2140Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R2140Q
| 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 |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,281,115 (GRCm38) |
I774F |
probably benign |
Het |
| 3425401B19Rik |
A |
T |
14: 32,661,669 (GRCm38) |
C780S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,341,531 (GRCm38) |
D306G |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,852,527 (GRCm38) |
|
probably benign |
Het |
| Agt |
T |
C |
8: 124,564,445 (GRCm38) |
Y41C |
probably benign |
Het |
| Alx3 |
G |
T |
3: 107,604,287 (GRCm38) |
R204L |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,611,739 (GRCm38) |
R260P |
probably damaging |
Het |
| Bcl11a |
C |
T |
11: 24,164,763 (GRCm38) |
P702L |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 154,009,170 (GRCm38) |
N17S |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,541,754 (GRCm38) |
D35G |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,275,224 (GRCm38) |
K21R |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,353,782 (GRCm38) |
|
probably null |
Het |
| Cntnap5c |
A |
C |
17: 58,199,048 (GRCm38) |
N689T |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,833,239 (GRCm38) |
Y389C |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,997,618 (GRCm38) |
|
probably null |
Het |
| Coro1b |
G |
A |
19: 4,150,804 (GRCm38) |
R245Q |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,698,003 (GRCm38) |
D244G |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 173,095,328 (GRCm38) |
|
probably null |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm38) |
P40L |
possibly damaging |
Het |
| Dsg4 |
C |
A |
18: 20,451,872 (GRCm38) |
Y214* |
probably null |
Het |
| Eapp |
A |
T |
12: 54,692,655 (GRCm38) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,920,545 (GRCm38) |
T317A |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,772,738 (GRCm38) |
C39R |
unknown |
Het |
| Gm281 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
| Golim4 |
T |
C |
3: 75,906,396 (GRCm38) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,690,902 (GRCm38) |
S1393L |
possibly damaging |
Het |
| Guca1b |
A |
G |
17: 47,389,119 (GRCm38) |
I73V |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,796,908 (GRCm38) |
V796I |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,748,833 (GRCm38) |
I2271T |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,738,257 (GRCm38) |
Y1066* |
probably null |
Het |
| Helz2 |
C |
A |
2: 181,238,380 (GRCm38) |
K514N |
|
Het |
| Il18rap |
C |
T |
1: 40,543,017 (GRCm38) |
T366M |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,113,621 (GRCm38) |
T245A |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,911,157 (GRCm38) |
Q562* |
probably null |
Het |
| Khnyn |
A |
G |
14: 55,887,278 (GRCm38) |
R330G |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,152,127 (GRCm38) |
C184S |
probably damaging |
Het |
| Lhx5 |
T |
A |
5: 120,436,444 (GRCm38) |
L271* |
probably null |
Het |
| Magel2 |
G |
A |
7: 62,379,789 (GRCm38) |
V814M |
unknown |
Het |
| Manf |
A |
G |
9: 106,890,262 (GRCm38) |
I85T |
possibly damaging |
Het |
| Mgmt |
A |
G |
7: 137,128,065 (GRCm38) |
T203A |
probably benign |
Het |
| Mmp9 |
C |
T |
2: 164,952,648 (GRCm38) |
S520F |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,441,418 (GRCm38) |
E578G |
possibly damaging |
Het |
| Naaladl2 |
A |
G |
3: 23,846,593 (GRCm38) |
M691T |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,487,685 (GRCm38) |
V51I |
probably benign |
Het |
| Olfr1217 |
T |
C |
2: 89,023,950 (GRCm38) |
N18D |
probably benign |
Het |
| Olfr1222 |
T |
C |
2: 89,125,264 (GRCm38) |
I156V |
probably benign |
Het |
| Olfr136 |
A |
T |
17: 38,335,429 (GRCm38) |
T91S |
possibly damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,767,065 (GRCm38) |
M317L |
possibly damaging |
Het |
| Pcnt |
T |
G |
10: 76,387,525 (GRCm38) |
K1941T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,743,601 (GRCm38) |
M896K |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,482,443 (GRCm38) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 99,064,148 (GRCm38) |
S542P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,197,258 (GRCm38) |
V822A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,608,113 (GRCm38) |
G717C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,423,320 (GRCm38) |
A1185T |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,776,249 (GRCm38) |
I1157F |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,992,045 (GRCm38) |
T457A |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,876,943 (GRCm38) |
E270G |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,721,444 (GRCm38) |
E269K |
unknown |
Het |
| Sec23b |
T |
C |
2: 144,559,396 (GRCm38) |
V59A |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,955,983 (GRCm38) |
|
probably null |
Het |
| Sp5 |
C |
A |
2: 70,476,618 (GRCm38) |
P216T |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,978,734 (GRCm38) |
D385E |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,206,803 (GRCm38) |
S808F |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,943,270 (GRCm38) |
|
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,338,437 (GRCm38) |
S563T |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,983,082 (GRCm38) |
D580G |
unknown |
Het |
| Usp14 |
A |
G |
18: 9,996,194 (GRCm38) |
I462T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,613,685 (GRCm38) |
G332E |
probably benign |
Het |
| Vmn1r184 |
C |
G |
7: 26,266,885 (GRCm38) |
Q19E |
possibly damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,710 (GRCm38) |
A64E |
probably benign |
Het |
| Zc3h11a |
T |
A |
1: 133,638,601 (GRCm38) |
N211I |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,913,426 (GRCm38) |
K600Q |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,619,942 (GRCm38) |
S723T |
probably benign |
Het |
| Zmynd12 |
A |
T |
4: 119,437,089 (GRCm38) |
I88F |
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 |
|
|
R0078:Ice1
|
UTSW |
13 |
70,603,348 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- GAGCAACTGACCCTTGAAGATAC -3'
(R):5'- CAGCTGTCTCACTGAGTGGTAG -3'
Sequencing Primer
(F):5'- CACATGAATTTAAGTTGGAAGGACTG -3'
(R):5'- TGGTAGCCCACACTGCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation