Incidental Mutation 'IGL00928:Trim71'
| ID |
28172 |
| 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 # |
IGL00928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
114340336-114393437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114354083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 307
(D307G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111816]
|
| AlphaFold |
Q1PSW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111816
AA Change: D307G
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: D307G
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,217,720 (GRCm39) |
|
probably benign |
Het |
| Ablim3 |
T |
C |
18: 61,982,477 (GRCm39) |
E156G |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,096 (GRCm39) |
T79A |
probably benign |
Het |
| Arel1 |
A |
T |
12: 84,980,936 (GRCm39) |
V357E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,594,675 (GRCm39) |
I241V |
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,522,893 (GRCm39) |
Y343C |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,927,220 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,380,018 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,162,393 (GRCm39) |
T24P |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,764 (GRCm39) |
L293P |
possibly damaging |
Het |
| Engase |
C |
A |
11: 118,373,796 (GRCm39) |
R313S |
possibly damaging |
Het |
| Espn |
A |
G |
4: 152,220,059 (GRCm39) |
S28P |
probably damaging |
Het |
| Gnas |
T |
A |
2: 174,139,746 (GRCm39) |
L31* |
probably null |
Het |
| Gorasp2 |
A |
G |
2: 70,521,208 (GRCm39) |
T393A |
probably benign |
Het |
| Gpc6 |
T |
A |
14: 117,163,370 (GRCm39) |
V8E |
possibly damaging |
Het |
| Gtf2a1l |
T |
C |
17: 89,001,890 (GRCm39) |
S202P |
probably benign |
Het |
| Gucy1a2 |
T |
C |
9: 3,759,777 (GRCm39) |
F528L |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,018 (GRCm39) |
H721R |
probably benign |
Het |
| Kcnu1 |
T |
C |
8: 26,339,763 (GRCm39) |
F27S |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,635,578 (GRCm39) |
W366R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,396,908 (GRCm39) |
V954A |
probably damaging |
Het |
| Nudt13 |
T |
C |
14: 20,366,231 (GRCm39) |
I303T |
possibly damaging |
Het |
| Or10s1 |
T |
A |
9: 39,986,072 (GRCm39) |
H160Q |
probably damaging |
Het |
| Or2h1 |
A |
C |
17: 37,404,224 (GRCm39) |
S181A |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,800,281 (GRCm39) |
V289A |
probably benign |
Het |
| Pamr1 |
C |
A |
2: 102,469,686 (GRCm39) |
Q411K |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,247,386 (GRCm39) |
M1T |
probably null |
Het |
| Phf20 |
T |
C |
2: 156,146,736 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,365,424 (GRCm39) |
S49G |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,283 (GRCm39) |
|
probably null |
Het |
| Rdh14 |
G |
A |
12: 10,444,803 (GRCm39) |
S218N |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,675,978 (GRCm39) |
R16G |
probably benign |
Het |
| Scarb2 |
A |
C |
5: 92,594,203 (GRCm39) |
F453C |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,515 (GRCm39) |
T179A |
probably benign |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Ufl1 |
A |
T |
4: 25,267,790 (GRCm39) |
L294M |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,425,301 (GRCm39) |
P540Q |
probably damaging |
Het |
| Wmp |
T |
A |
X: 106,989,449 (GRCm39) |
E488V |
possibly damaging |
Het |
|
| Other mutations in Trim71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02060:Trim71
|
APN |
9 |
114,342,321 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
2013-04-17 |
Incidental Mutation