Incidental Mutation 'R3843:Trim71'
| ID |
277252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim71
|
| Ensembl Gene |
ENSMUSG00000079259 |
| Gene Name |
tripartite motif-containing 71 |
| Synonyms |
lin-41, 2610206G21Rik, mLin41, mlin-41, 636931, LOC382112, Lin41 |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114340336-114393437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114344914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111816]
[ENSMUST00000180393]
|
| AlphaFold |
Q1PSW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111816
AA Change: T335A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: T335A
| 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 |
unknown
Transcript: ENSMUST00000180393
AA Change: V50A
|
| Meta Mutation Damage Score |
0.0578 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTCAGATCTTGAAAGGAGG -3'
(R):5'- TGATACTCACTGGAGGTGCC -3'
Sequencing Primer
(F):5'- AGGCTCCTCCAGTGCAGTG -3'
(R):5'- GATACTCACTGGAGGTGCCACTTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation