Incidental Mutation 'R2409:Trim71'
| ID |
248133 |
| 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 |
040375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114340336-114393437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114342781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 500
(D500E)
|
| 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: D500E
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: D500E
| 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 |
0.0763 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
| Cib2 |
A |
G |
9: 54,452,751 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
| Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
CCGTGTTT |
C |
14: 62,643,628 (GRCm39) |
|
probably null |
Het |
| Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
| Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
| Rgs5 |
G |
T |
1: 169,504,451 (GRCm39) |
V34F |
possibly damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,990,048 (GRCm39) |
S116P |
probably benign |
Het |
| Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,251,287 (GRCm39) |
I535N |
probably damaging |
Het |
| Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
| Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGGCTGTTCTCTATATGC -3'
(R):5'- TGCAGGAGCTCAAGACCATC -3'
Sequencing Primer
(F):5'- GCTGATTGTACAATGTCACCGAC -3'
(R):5'- CCCAAGAAGATGACCGCATTATGTTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation