Incidental Mutation 'R3034:Trim71'
| ID |
264788 |
| 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 |
040550-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3034 (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 114341912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 790
(D790G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111816]
[ENSMUST00000180393]
|
| AlphaFold |
Q1PSW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111816
AA Change: D790G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: D790G
| 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
|
| Meta Mutation Damage Score |
0.9613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
| Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
| Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
| Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
| Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
| Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
| Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
| Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
| Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
| Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
| Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATTCGATTGTTGCCAAAGTC -3'
(R):5'- TCCTGAACAAGTACGGCTTCG -3'
Sequencing Primer
(F):5'- GATTGTTGCCAAAGTCCACCACG -3'
(R):5'- AGGGATCTCTCTGGAAGCACTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation