Incidental Mutation 'R1930:Ice1'
| ID |
215300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
039948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R1930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70753202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 961
(S961R)
|
| 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: S961R
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: S961R
| 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
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,540 (GRCm39) |
D148E |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| 4933430I17Rik |
A |
T |
4: 62,450,519 (GRCm39) |
D31V |
possibly damaging |
Het |
| Acsl1 |
C |
A |
8: 46,984,023 (GRCm39) |
A514E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,326,124 (GRCm39) |
Y110C |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,301,891 (GRCm39) |
H27L |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,991,204 (GRCm39) |
I578N |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AW011738 |
T |
C |
4: 156,287,997 (GRCm39) |
|
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cav1 |
A |
T |
6: 17,339,331 (GRCm39) |
I139F |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,460,291 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,683,563 (GRCm39) |
L261P |
possibly damaging |
Het |
| Cntn3 |
C |
T |
6: 102,219,014 (GRCm39) |
W535* |
probably null |
Het |
| Col4a4 |
A |
C |
1: 82,444,321 (GRCm39) |
|
probably null |
Het |
| Daam2 |
A |
T |
17: 49,769,241 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
G |
A |
15: 98,548,599 (GRCm39) |
R370W |
possibly damaging |
Het |
| Dgkh |
T |
C |
14: 78,853,945 (GRCm39) |
I265V |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,666,074 (GRCm39) |
K306R |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,497,265 (GRCm39) |
T4250M |
possibly damaging |
Het |
| Fezf1 |
T |
G |
6: 23,246,906 (GRCm39) |
I309L |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,795,580 (GRCm39) |
K206E |
probably damaging |
Het |
| Glt8d2 |
G |
T |
10: 82,500,476 (GRCm39) |
S91R |
probably benign |
Het |
| H2-Oa |
A |
T |
17: 34,312,873 (GRCm39) |
H50L |
possibly damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,643 (GRCm39) |
Y369H |
possibly damaging |
Het |
| Hspg2 |
T |
A |
4: 137,267,541 (GRCm39) |
S2050T |
probably damaging |
Het |
| Ift20 |
G |
A |
11: 78,430,830 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,603,494 (GRCm39) |
F367I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,728,514 (GRCm39) |
Q415L |
probably benign |
Het |
| Krtcap2 |
T |
A |
3: 89,154,383 (GRCm39) |
N35K |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,773,708 (GRCm39) |
V294A |
probably damaging |
Het |
| Lrp5 |
C |
T |
19: 3,660,131 (GRCm39) |
V978I |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,996,920 (GRCm39) |
D208E |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,853 (GRCm39) |
T147S |
probably benign |
Het |
| Mfsd4b1 |
C |
A |
10: 39,882,070 (GRCm39) |
A72S |
probably benign |
Het |
| Msln |
A |
T |
17: 25,970,896 (GRCm39) |
N150K |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,425,894 (GRCm39) |
V33A |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,398,555 (GRCm39) |
M1V |
probably null |
Het |
| Or4c3 |
G |
A |
2: 89,851,505 (GRCm39) |
R302C |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,745 (GRCm39) |
M81K |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,038,251 (GRCm39) |
Q269L |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,614,453 (GRCm39) |
V333L |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,755,778 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,733 (GRCm39) |
D737G |
possibly damaging |
Het |
| Ptgfr |
T |
A |
3: 151,540,831 (GRCm39) |
T226S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Scgb2b20 |
T |
C |
7: 33,065,621 (GRCm39) |
|
probably null |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,809 (GRCm39) |
V259A |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,194 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc51b |
T |
A |
9: 65,322,478 (GRCm39) |
E21V |
probably damaging |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spata3 |
A |
C |
1: 85,949,783 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,145,658 (GRCm39) |
D1101G |
probably damaging |
Het |
| Srf |
C |
A |
17: 46,860,912 (GRCm39) |
G401C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stradb |
A |
C |
1: 59,030,264 (GRCm39) |
N173H |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,524,190 (GRCm39) |
D598E |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,477,378 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,216,610 (GRCm39) |
|
probably null |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,370,262 (GRCm39) |
S301G |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,762,079 (GRCm39) |
N515K |
unknown |
Het |
| Togaram1 |
A |
G |
12: 65,013,709 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,717 (GRCm39) |
F174L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,193 (GRCm39) |
D31099N |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,700 (GRCm39) |
L446F |
probably damaging |
Het |
| Utp25 |
T |
A |
1: 192,800,617 (GRCm39) |
K401I |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,161 (GRCm39) |
T424M |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,436,382 (GRCm39) |
M1K |
probably null |
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 |
|
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'- CTGAGGCTTGAAGGGCAAAC -3'
(R):5'- GTCTTGGCGAAACCCCATTTG -3'
Sequencing Primer
(F):5'- CACACGAGCTCTGAGAGGAC -3'
(R):5'- GGCGAAACCCCATTTGTGATTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation