Incidental Mutation 'IGL02060:Trim71'
| ID |
185360 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim71
|
| Ensembl Gene |
ENSMUSG00000079259 |
| Gene Name |
tripartite motif-containing 71 |
| Synonyms |
lin-41, 2610206G21Rik, mLin41, mlin-41, 636931, LOC382112, Lin41 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
114340336-114393437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114342321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 654
(I654V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111816]
[ENSMUST00000180393]
|
| AlphaFold |
Q1PSW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111816
AA Change: I654V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: I654V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
93 |
7.16e-6 |
SMART |
|
low complexity region
|
129 |
176 |
N/A |
INTRINSIC |
|
BBOX
|
181 |
230 |
1.49e-1 |
SMART |
|
BBOX
|
260 |
301 |
4.54e-8 |
SMART |
|
Blast:BBC
|
325 |
433 |
1e-9 |
BLAST |
|
IG_FLMN
|
470 |
570 |
5.04e-24 |
SMART |
|
Pfam:NHL
|
593 |
620 |
2.9e-12 |
PFAM |
|
Pfam:NHL
|
640 |
667 |
1.8e-9 |
PFAM |
|
Pfam:NHL
|
687 |
714 |
4.4e-12 |
PFAM |
|
Pfam:NHL
|
734 |
761 |
1.4e-10 |
PFAM |
|
Pfam:NHL
|
781 |
808 |
4.4e-12 |
PFAM |
|
Pfam:NHL
|
828 |
855 |
8.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180393
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,603 (GRCm39) |
I178F |
probably damaging |
Het |
| Aff1 |
T |
C |
5: 103,931,715 (GRCm39) |
V111A |
possibly damaging |
Het |
| Aox1 |
T |
G |
1: 58,137,114 (GRCm39) |
I1168R |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,646,989 (GRCm39) |
R295G |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,164,328 (GRCm39) |
|
probably benign |
Het |
| Cse1l |
A |
T |
2: 166,772,573 (GRCm39) |
L413F |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,666 (GRCm39) |
V1024A |
probably damaging |
Het |
| Fam13c |
A |
T |
10: 70,388,971 (GRCm39) |
E498V |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,420 (GRCm39) |
E4792G |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,996 (GRCm39) |
L151* |
probably null |
Het |
| Igbp1b |
G |
T |
6: 138,634,982 (GRCm39) |
A154E |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,490,500 (GRCm39) |
K277R |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,249,688 (GRCm39) |
Y199C |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,563 (GRCm39) |
T65A |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,266 (GRCm39) |
Y85C |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,117,700 (GRCm39) |
A887T |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,907 (GRCm39) |
F12Y |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,824 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
G |
T |
7: 107,665,878 (GRCm39) |
F42L |
probably benign |
Het |
| Or9g4 |
C |
T |
2: 85,505,178 (GRCm39) |
V106I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,469 (GRCm39) |
T420A |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,546 (GRCm39) |
V646A |
probably benign |
Het |
| Prkg2 |
A |
G |
5: 99,172,374 (GRCm39) |
S114P |
probably benign |
Het |
| Rela |
G |
T |
19: 5,688,628 (GRCm39) |
K28N |
probably damaging |
Het |
| Rhbdf2 |
G |
T |
11: 116,491,452 (GRCm39) |
A598E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,762,450 (GRCm39) |
D1454N |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,938,767 (GRCm39) |
L397F |
possibly damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,361,817 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,795,453 (GRCm39) |
V518E |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,700,134 (GRCm39) |
M133L |
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,810 (GRCm39) |
Y105C |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,159,326 (GRCm39) |
S98P |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,111,261 (GRCm39) |
M4L |
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,315,237 (GRCm39) |
S133G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,516 (GRCm39) |
N76S |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,330,634 (GRCm39) |
S910G |
probably damaging |
Het |
|
| Other mutations in Trim71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Trim71
|
APN |
9 |
114,354,083 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1858:Trim71
|
UTSW |
9 |
114,392,016 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2161:Trim71
|
UTSW |
9 |
114,341,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2409:Trim71
|
UTSW |
9 |
114,342,781 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3034:Trim71
|
UTSW |
9 |
114,341,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Trim71
|
UTSW |
9 |
114,344,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6786:Trim71
|
UTSW |
9 |
114,341,772 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6846:Trim71
|
UTSW |
9 |
114,354,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Trim71
|
UTSW |
9 |
114,342,230 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7559:Trim71
|
UTSW |
9 |
114,342,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7590:Trim71
|
UTSW |
9 |
114,391,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7922:Trim71
|
UTSW |
9 |
114,342,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8156:Trim71
|
UTSW |
9 |
114,342,192 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8371:Trim71
|
UTSW |
9 |
114,344,857 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8756:Trim71
|
UTSW |
9 |
114,342,605 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8982:Trim71
|
UTSW |
9 |
114,342,804 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9571:Trim71
|
UTSW |
9 |
114,342,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Trim71
|
UTSW |
9 |
114,342,183 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Trim71
|
UTSW |
9 |
114,342,549 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation