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 |
70551707-70637634 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70602427 bp (GRCm38)
|
| 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: 70,467,926 |
|
probably null |
Het |
| 5430419D17Rik |
T |
C |
7: 131,238,182 |
L611P |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 24,647,853 |
T324A |
probably benign |
Het |
| AI429214 |
A |
G |
8: 36,994,319 |
Q207R |
probably benign |
Het |
| Asic5 |
C |
T |
3: 82,008,448 |
|
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 69,802,144 |
|
probably null |
Het |
| Atp6v0a1 |
T |
A |
11: 101,055,491 |
L770* |
probably null |
Het |
| B3gnt5 |
T |
A |
16: 19,770,010 |
D326E |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,299,633 |
D451V |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 195,041,992 |
*366W |
probably null |
Het |
| Cenpc1 |
A |
T |
5: 86,037,908 |
V248E |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,594,899 |
S574P |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,964,289 |
|
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,478,664 |
S858P |
probably damaging |
Het |
| Cxcl1 |
A |
T |
5: 90,891,767 |
K85* |
probably null |
Het |
| Daam1 |
A |
C |
12: 71,915,784 |
K90T |
unknown |
Het |
| Diexf |
A |
T |
1: 193,114,703 |
N573K |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,576,908 |
A632T |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,127,987 |
I391F |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,752,145 |
V3081A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 66,005,837 |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,854,538 |
E22G |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,614,104 |
D65G |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,636,339 |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,977,092 |
T1252S |
probably benign |
Het |
| Gm12500 |
T |
C |
3: 108,086,476 |
|
probably null |
Het |
| Gm6327 |
T |
C |
16: 12,761,113 |
|
noncoding transcript |
Het |
| Golga4 |
T |
C |
9: 118,537,273 |
I365T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,454,543 |
L65Q |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,257,918 |
|
probably benign |
Het |
| Kbtbd7 |
A |
G |
14: 79,427,430 |
E234G |
possibly damaging |
Het |
| Khsrp |
T |
C |
17: 57,025,576 |
T235A |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,721,158 |
|
probably null |
Het |
| Lgals8 |
A |
T |
13: 12,451,395 |
|
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,843,437 |
G504D |
probably damaging |
Het |
| Map6 |
G |
A |
7: 99,336,743 |
G821D |
possibly damaging |
Het |
| Mcpt8 |
T |
C |
14: 56,083,800 |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,332,520 |
I222N |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,620,427 |
C350Y |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,438,716 |
|
probably benign |
Het |
| Nfix |
G |
A |
8: 84,726,526 |
R300C |
probably damaging |
Het |
| Olfm3 |
C |
A |
3: 115,101,986 |
S172R |
probably benign |
Het |
| Olfr1168 |
A |
T |
2: 88,184,978 |
T34S |
probably benign |
Het |
| Olfr1231 |
A |
T |
2: 89,303,184 |
I136N |
probably damaging |
Het |
| Olfr342 |
A |
G |
2: 36,528,008 |
I199V |
probably benign |
Het |
| Olfr70 |
A |
G |
4: 43,696,706 |
S156P |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,143,829 |
D557E |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,247,139 |
D343G |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,428,252 |
T438A |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,557,081 |
W857R |
probably damaging |
Het |
| Pm20d2 |
T |
A |
4: 33,174,734 |
|
probably benign |
Het |
| Rilpl1 |
A |
G |
5: 124,501,888 |
I122T |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,501,871 |
S156P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,863,929 |
V262M |
possibly damaging |
Het |
| Saxo2 |
A |
G |
7: 82,634,870 |
V260A |
probably benign |
Het |
| Skint1 |
T |
G |
4: 112,028,215 |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,943,304 |
F533S |
probably benign |
Het |
| Slc38a4 |
C |
T |
15: 97,005,858 |
V421M |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,400,721 |
|
probably null |
Het |
| Spag7 |
A |
G |
11: 70,669,182 |
|
probably benign |
Het |
| Sri |
A |
T |
5: 8,059,381 |
Q55L |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,642,935 |
T2A |
possibly damaging |
Het |
| Tmco5 |
A |
G |
2: 116,883,218 |
T122A |
probably benign |
Het |
| Tmem59l |
G |
A |
8: 70,486,060 |
P124S |
possibly damaging |
Het |
| Trpv6 |
T |
A |
6: 41,625,188 |
T396S |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,413,678 |
|
probably null |
Het |
| Usp24 |
T |
A |
4: 106,371,079 |
Y780* |
probably null |
Het |
| Vmn2r53 |
A |
G |
7: 12,601,392 |
F114L |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,818,482 |
R296H |
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 |
|
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 |
70,589,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7650:Ice1
|
UTSW |
13 |
70,605,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
R8911:Ice1
|
UTSW |
13 |
70,592,668 (GRCm38) |
missense |
|
|
|
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'- CAGTGTCATCTGCACTAGCCAGTC -3'
(R):5'- CTGACGGTAGCCAAGGTAAGTCAC -3'
Sequencing Primer
(F):5'- GAAAAGTTGCCACCTACCTTG -3'
(R):5'- TAGCCAAGGTAAGTCACAAGACTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation