Incidental Mutation 'R7032:Ice1'
| ID |
546404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
045133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R7032 (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 C
at 70744283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2100
(N2100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: N2100S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: N2100S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,438 (GRCm39) |
D398E |
possibly damaging |
Het |
| Adam34 |
T |
C |
8: 44,105,303 (GRCm39) |
Y114C |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,004,896 (GRCm39) |
D156E |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,825 (GRCm39) |
S408T |
probably benign |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,627,181 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
T |
A |
8: 69,541,548 (GRCm39) |
V35E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,255,289 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
C |
A |
10: 4,432,597 (GRCm39) |
P12Q |
unknown |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cdo1 |
A |
T |
18: 46,853,475 (GRCm39) |
F94L |
probably damaging |
Het |
| Cfap96 |
T |
G |
8: 46,409,474 (GRCm39) |
S282R |
probably damaging |
Het |
| Chdh |
C |
T |
14: 29,758,809 (GRCm39) |
P585S |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,683,391 (GRCm39) |
N407S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,453,329 (GRCm39) |
S465C |
probably benign |
Het |
| Clip2 |
C |
A |
5: 134,551,484 (GRCm39) |
V213L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,707 (GRCm39) |
S1194P |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,268,463 (GRCm39) |
T421A |
possibly damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,796 (GRCm39) |
N2002D |
probably damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,528 (GRCm39) |
N15Y |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,936,147 (GRCm39) |
V647G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,353,424 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,102,589 (GRCm39) |
V222A |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,864 (GRCm39) |
I242K |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,319 (GRCm39) |
M131T |
probably benign |
Het |
| Ifi205 |
T |
A |
1: 173,855,916 (GRCm39) |
D38V |
possibly damaging |
Het |
| Klhl9 |
G |
A |
4: 88,639,843 (GRCm39) |
Q133* |
probably null |
Het |
| Krt84 |
T |
C |
15: 101,436,924 (GRCm39) |
E370G |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,410 (GRCm39) |
I12T |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,709,850 (GRCm39) |
L398* |
probably null |
Het |
| Ltf |
G |
A |
9: 110,855,198 (GRCm39) |
|
probably null |
Het |
| Macf1 |
C |
T |
4: 123,366,101 (GRCm39) |
V1322I |
probably benign |
Het |
| Mark2 |
T |
A |
19: 7,264,698 (GRCm39) |
I112L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,649 (GRCm39) |
|
probably null |
Het |
| Mterf2 |
A |
T |
10: 84,956,527 (GRCm39) |
C32* |
probably null |
Het |
| Myo3b |
C |
T |
2: 69,925,608 (GRCm39) |
T25I |
probably damaging |
Het |
| Nsun7 |
A |
C |
5: 66,421,378 (GRCm39) |
I115L |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,883,805 (GRCm39) |
V36M |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,160,428 (GRCm39) |
I71T |
possibly damaging |
Het |
| Or5d44 |
T |
C |
2: 88,141,373 (GRCm39) |
T256A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,965 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,983 (GRCm39) |
S246T |
possibly damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,962 (GRCm39) |
R677S |
probably benign |
Het |
| Prrt4 |
A |
C |
6: 29,170,538 (GRCm39) |
L638R |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab44 |
T |
C |
17: 29,359,438 (GRCm39) |
F542S |
unknown |
Het |
| Rhobtb3 |
T |
A |
13: 76,020,513 (GRCm39) |
E596D |
probably benign |
Het |
| Rpl36 |
T |
C |
17: 56,920,944 (GRCm39) |
I44T |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,737,762 (GRCm39) |
I112V |
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,993,813 (GRCm39) |
I611T |
probably damaging |
Het |
| Slc12a4 |
G |
T |
8: 106,675,865 (GRCm39) |
N553K |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,046 (GRCm39) |
R496S |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,125 (GRCm39) |
D387G |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,153 (GRCm39) |
C299S |
possibly damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,274,134 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
A |
T |
7: 35,180,471 (GRCm39) |
Y847* |
probably null |
Het |
| Tlr2 |
A |
T |
3: 83,745,212 (GRCm39) |
N290K |
probably benign |
Het |
| Tmppe |
A |
G |
9: 114,234,858 (GRCm39) |
T386A |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,297 (GRCm39) |
H741Q |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,609,951 (GRCm39) |
V140M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,932 (GRCm39) |
D13427G |
probably damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,371 (GRCm39) |
L106I |
possibly damaging |
Het |
| Unc5b |
T |
G |
10: 60,614,587 (GRCm39) |
T237P |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,294 (GRCm39) |
D467A |
probably damaging |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,780 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,017 (GRCm39) |
Y196* |
probably null |
Het |
| Zhx3 |
A |
G |
2: 160,622,898 (GRCm39) |
V423A |
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 |
|
|
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 |
|
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'- GCGACTTGGACATTTTCAGG -3'
(R):5'- GCATAGCGTAAATGGCAGTCC -3'
Sequencing Primer
(F):5'- ACTTGGACATTTTCAGGCTACTTTTG -3'
(R):5'- GAATGCTCCTATAGATGTTGGAATCG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation