Incidental Mutation 'R0973:Ice1'
ID |
82972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
039102-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R0973 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 70750546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1847
(V1847L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043493
AA Change: V1847L
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525 AA Change: V1847L
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
AA Change: V47L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222627
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
97% (70/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
A |
18: 70,600,997 (GRCm39) |
|
probably null |
Het |
Adam18 |
T |
C |
8: 25,137,869 (GRCm39) |
T324A |
probably benign |
Het |
AI429214 |
A |
G |
8: 37,461,473 (GRCm39) |
Q207R |
probably benign |
Het |
Asic5 |
C |
T |
3: 81,915,755 (GRCm39) |
|
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,254,794 (GRCm39) |
|
probably null |
Het |
Atp6v0a1 |
T |
A |
11: 100,946,317 (GRCm39) |
L770* |
probably null |
Het |
B3gnt5 |
T |
A |
16: 19,588,760 (GRCm39) |
D326E |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,518,607 (GRCm39) |
D451V |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,724,300 (GRCm39) |
*366W |
probably null |
Het |
Cdcp3 |
T |
C |
7: 130,839,911 (GRCm39) |
L611P |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,185,767 (GRCm39) |
V248E |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,436,819 (GRCm39) |
S574P |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,806,209 (GRCm39) |
|
probably benign |
Het |
Chd2 |
A |
G |
7: 73,128,412 (GRCm39) |
S858P |
probably damaging |
Het |
Cxcl1 |
A |
T |
5: 91,039,626 (GRCm39) |
K85* |
probably null |
Het |
Daam1 |
A |
C |
12: 71,962,558 (GRCm39) |
K90T |
unknown |
Het |
Dip2c |
G |
A |
13: 9,626,944 (GRCm39) |
A632T |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,177,987 (GRCm39) |
I391F |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,579,710 (GRCm39) |
V3081A |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,896,663 (GRCm39) |
|
probably null |
Het |
Efemp1 |
A |
G |
11: 28,804,538 (GRCm39) |
E22G |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,591,038 (GRCm39) |
D65G |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,807,436 (GRCm39) |
T1252S |
probably benign |
Het |
Gm12500 |
T |
C |
3: 107,993,792 (GRCm39) |
|
probably null |
Het |
Gm6327 |
T |
C |
16: 12,578,977 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,366,341 (GRCm39) |
I365T |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,053,766 (GRCm39) |
L65Q |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,415,262 (GRCm39) |
|
probably benign |
Het |
Kbtbd7 |
A |
G |
14: 79,664,870 (GRCm39) |
E234G |
possibly damaging |
Het |
Khsrp |
T |
C |
17: 57,332,576 (GRCm39) |
T235A |
probably benign |
Het |
Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
Lgals8 |
A |
T |
13: 12,466,276 (GRCm39) |
|
probably benign |
Het |
Lrfn5 |
G |
A |
12: 61,890,223 (GRCm39) |
G504D |
probably damaging |
Het |
Map6 |
G |
A |
7: 98,985,950 (GRCm39) |
G821D |
possibly damaging |
Het |
Mcpt8 |
T |
C |
14: 56,321,257 (GRCm39) |
|
probably benign |
Het |
Myh13 |
T |
A |
11: 67,223,346 (GRCm39) |
I222N |
probably damaging |
Het |
Myh7b |
G |
A |
2: 155,462,347 (GRCm39) |
C350Y |
probably benign |
Het |
Naa25 |
T |
C |
5: 121,576,779 (GRCm39) |
|
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Olfm3 |
C |
A |
3: 114,895,635 (GRCm39) |
S172R |
probably benign |
Het |
Or13e8 |
A |
G |
4: 43,696,706 (GRCm39) |
S156P |
probably damaging |
Het |
Or1j14 |
A |
G |
2: 36,418,020 (GRCm39) |
I199V |
probably benign |
Het |
Or4c1 |
A |
T |
2: 89,133,528 (GRCm39) |
I136N |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,322 (GRCm39) |
T34S |
probably benign |
Het |
Pacs1 |
A |
T |
19: 5,193,857 (GRCm39) |
D557E |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,122,883 (GRCm39) |
D343G |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,561,305 (GRCm39) |
T438A |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,447,907 (GRCm39) |
W857R |
probably damaging |
Het |
Pm20d2 |
T |
A |
4: 33,174,734 (GRCm39) |
|
probably benign |
Het |
Rilpl1 |
A |
G |
5: 124,639,951 (GRCm39) |
I122T |
possibly damaging |
Het |
Rilpl1 |
A |
G |
5: 124,639,934 (GRCm39) |
S156P |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Saxo2 |
A |
G |
7: 82,284,078 (GRCm39) |
V260A |
probably benign |
Het |
Skint1 |
T |
G |
4: 111,885,412 (GRCm39) |
|
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,850,725 (GRCm39) |
F533S |
probably benign |
Het |
Slc38a4 |
C |
T |
15: 96,903,739 (GRCm39) |
V421M |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,282,774 (GRCm39) |
|
probably null |
Het |
Spag7 |
A |
G |
11: 70,560,008 (GRCm39) |
|
probably benign |
Het |
Sri |
A |
T |
5: 8,109,381 (GRCm39) |
Q55L |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmco5 |
A |
G |
2: 116,713,699 (GRCm39) |
T122A |
probably benign |
Het |
Tmem59l |
G |
A |
8: 70,938,710 (GRCm39) |
P124S |
possibly damaging |
Het |
Trpv6 |
T |
A |
6: 41,602,122 (GRCm39) |
T396S |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
Usp24 |
A |
G |
4: 106,270,875 (GRCm39) |
|
probably null |
Het |
Utp25 |
A |
T |
1: 192,797,011 (GRCm39) |
N573K |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,319 (GRCm39) |
F114L |
probably damaging |
Het |
Zfp626 |
G |
A |
7: 27,517,907 (GRCm39) |
R296H |
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 |
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'- CAGTGTCATCTGCACTAGCCAGTC -3'
(R):5'- CTGACGGTAGCCAAGGTAAGTCAC -3'
Sequencing Primer
(F):5'- GAAAAGTTGCCACCTACCTTG -3'
(R):5'- TAGCCAAGGTAAGTCACAAGACTC -3'
|
Posted On |
2013-11-08 |