Incidental Mutation 'PIT4651001:Ice1'
ID |
556693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
PIT4651001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 70772040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000222568]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043493
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525
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: ENSMUST00000222568
AA Change: D59E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 70.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,408,014 (GRCm39) |
I428L |
probably benign |
Het |
Aass |
T |
C |
6: 23,118,750 (GRCm39) |
I131V |
probably benign |
Het |
Alcam |
T |
A |
16: 52,115,550 (GRCm39) |
K189N |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,509,959 (GRCm39) |
E803* |
probably null |
Het |
Ankrd53 |
A |
G |
6: 83,742,715 (GRCm39) |
D236G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,114,087 (GRCm39) |
V298A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,900,602 (GRCm39) |
G361D |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,916,647 (GRCm39) |
S82G |
probably benign |
Het |
Ccr4 |
A |
T |
9: 114,321,261 (GRCm39) |
V268E |
probably benign |
Het |
Cdh6 |
G |
A |
15: 13,044,805 (GRCm39) |
S439L |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,941,711 (GRCm39) |
A254E |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,225,467 (GRCm39) |
T1078A |
|
Het |
Cyp46a1 |
A |
G |
12: 108,319,367 (GRCm39) |
D288G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,037,243 (GRCm39) |
N3333S |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,765,241 (GRCm39) |
V491A |
probably benign |
Het |
Egr1 |
G |
T |
18: 34,996,240 (GRCm39) |
E341* |
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,848 (GRCm39) |
P597S |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,373,365 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,205,909 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fhip1a |
C |
T |
3: 85,590,948 (GRCm39) |
A389T |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,151,982 (GRCm39) |
N5S |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,266,289 (GRCm39) |
H584L |
probably benign |
Het |
Gcgr |
G |
T |
11: 120,428,968 (GRCm39) |
C402F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,623,050 (GRCm39) |
N74K |
probably benign |
Het |
H1f9 |
A |
G |
11: 94,859,142 (GRCm39) |
S146G |
probably benign |
Het |
Hoxa10 |
T |
G |
6: 52,211,877 (GRCm39) |
N13T |
possibly damaging |
Het |
Il22 |
C |
A |
10: 118,041,495 (GRCm39) |
N69K |
probably damaging |
Het |
Il9r |
A |
T |
11: 32,141,798 (GRCm39) |
H319Q |
probably benign |
Het |
Itgax |
A |
G |
7: 127,748,282 (GRCm39) |
T1104A |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,943,617 (GRCm39) |
G193D |
probably damaging |
Het |
Krt13 |
T |
A |
11: 100,010,862 (GRCm39) |
D164V |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,649,194 (GRCm39) |
M865T |
probably damaging |
Het |
Lmf2 |
G |
A |
15: 89,236,272 (GRCm39) |
H576Y |
possibly damaging |
Het |
Lrrc8c |
C |
T |
5: 105,756,189 (GRCm39) |
H655Y |
probably benign |
Het |
Mapk6 |
A |
T |
9: 75,304,869 (GRCm39) |
S183T |
possibly damaging |
Het |
Mcrs1 |
A |
T |
15: 99,144,832 (GRCm39) |
Y261N |
probably damaging |
Het |
Mon1b |
G |
A |
8: 114,365,254 (GRCm39) |
G194D |
probably benign |
Het |
Myo18b |
C |
T |
5: 112,982,301 (GRCm39) |
R1144Q |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,795,456 (GRCm39) |
H808Q |
possibly damaging |
Het |
Ngdn |
T |
C |
14: 55,253,657 (GRCm39) |
I15T |
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,284,183 (GRCm39) |
S41R |
probably damaging |
Het |
Numa1 |
A |
T |
7: 101,663,141 (GRCm39) |
K2089M |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,743,692 (GRCm39) |
D129V |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,932,507 (GRCm39) |
L4900P |
probably damaging |
Het |
Olfm4 |
T |
A |
14: 80,258,925 (GRCm39) |
L391Q |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,526 (GRCm39) |
C240S |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,730 (GRCm39) |
C241R |
probably damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,991 (GRCm39) |
I11F |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,556 (GRCm39) |
I31T |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,862 (GRCm39) |
L12P |
probably damaging |
Het |
Parn |
T |
A |
16: 13,449,431 (GRCm39) |
N302Y |
probably benign |
Het |
Pi4k2b |
T |
G |
5: 52,905,812 (GRCm39) |
S118A |
possibly damaging |
Het |
Piwil4 |
C |
T |
9: 14,620,195 (GRCm39) |
V704I |
possibly damaging |
Het |
Pm20d2 |
G |
A |
4: 33,181,715 (GRCm39) |
T296M |
probably damaging |
Het |
Pmpcb |
C |
T |
5: 21,951,048 (GRCm39) |
A270V |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,106,945 (GRCm39) |
|
probably null |
Het |
Prkn |
T |
A |
17: 11,286,130 (GRCm39) |
L41Q |
probably damaging |
Het |
Rc3h1 |
C |
A |
1: 160,791,110 (GRCm39) |
N931K |
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,510 (GRCm39) |
V600A |
probably damaging |
Het |
Rpl27rt |
A |
T |
18: 34,870,892 (GRCm39) |
Q142L |
unknown |
Het |
Sall1 |
T |
G |
8: 89,757,731 (GRCm39) |
Q791P |
probably damaging |
Het |
Sema3c |
T |
A |
5: 17,899,731 (GRCm39) |
Y408N |
probably benign |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Tmem181a |
A |
T |
17: 6,351,170 (GRCm39) |
M319L |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,877,667 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,719,278 (GRCm39) |
T7234S |
unknown |
Het |
Unc13c |
T |
A |
9: 73,391,021 (GRCm39) |
M2076L |
possibly damaging |
Het |
Uroc1 |
C |
T |
6: 90,340,095 (GRCm39) |
R667* |
probably null |
Het |
Uvrag |
A |
G |
7: 98,555,727 (GRCm39) |
F456L |
probably benign |
Het |
Vmn1r215 |
T |
C |
13: 23,260,530 (GRCm39) |
V190A |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,659 (GRCm39) |
T681S |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,595,461 (GRCm39) |
T408S |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,939,755 (GRCm39) |
D502G |
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 |
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 |
70,753,602 (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'- ACAGAGTCTGCTAGGCTACC -3'
(R):5'- GATCAACAGCTCCTATGTAGTGC -3'
Sequencing Primer
(F):5'- CTGCTAGGCTACCGCAGTTTAG -3'
(R):5'- CAGCTCCTATGTAGTGCAATAAGG -3'
|
Posted On |
2019-06-07 |