Incidental Mutation 'R5947:Trim17'
| ID |
472237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim17
|
| Ensembl Gene |
ENSMUSG00000036964 |
| Gene Name |
tripartite motif-containing 17 |
| Synonyms |
Rnf16, terf |
| MMRRC Submission |
044138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58845511-58863923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58856369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 142
(Y142C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047697]
[ENSMUST00000075141]
|
| AlphaFold |
Q7TPM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047697
AA Change: Y142C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037248
Gene: ENSMUSG00000036964
AA Change: Y142C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
65 |
1.17e-10 |
SMART |
|
BBOX
|
94 |
135 |
4.1e-15 |
SMART |
|
coiled coil region
|
143 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075141
AA Change: Y142C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: Y142C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
65 |
1.17e-10 |
SMART |
|
BBOX
|
94 |
135 |
4.1e-15 |
SMART |
|
coiled coil region
|
143 |
180 |
N/A |
INTRINSIC |
|
PRY
|
294 |
347 |
8.95e-16 |
SMART |
|
SPRY
|
348 |
472 |
2.54e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131221
|
| Meta Mutation Damage Score |
0.3947 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (70/70) |
| 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 a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,694,737 (GRCm39) |
|
probably null |
Het |
| Abt1 |
T |
C |
13: 23,606,225 (GRCm39) |
E243G |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,876,771 (GRCm39) |
S361P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,596,694 (GRCm39) |
S507P |
probably benign |
Het |
| Atp13a3 |
A |
G |
16: 30,181,518 (GRCm39) |
V34A |
probably benign |
Het |
| Atpaf2 |
A |
T |
11: 60,296,708 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
A |
C |
19: 4,943,022 (GRCm39) |
L456R |
probably benign |
Het |
| Bri3bp |
G |
T |
5: 125,529,217 (GRCm39) |
G84* |
probably null |
Het |
| Bri3bp |
G |
C |
5: 125,529,218 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
C |
11: 93,381,439 (GRCm39) |
H134P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,006,691 (GRCm39) |
E119G |
probably damaging |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Dppa4 |
T |
C |
16: 48,111,471 (GRCm39) |
V100A |
possibly damaging |
Het |
| Elmo1 |
G |
T |
13: 20,474,553 (GRCm39) |
E105* |
probably null |
Het |
| Esrp2 |
T |
G |
8: 106,859,565 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,835 (GRCm39) |
K108R |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,522 (GRCm39) |
R1201H |
probably benign |
Het |
| Galnt3 |
A |
C |
2: 65,914,500 (GRCm39) |
|
probably benign |
Het |
| Gm14486 |
C |
T |
2: 30,548,813 (GRCm39) |
|
noncoding transcript |
Het |
| Gna12 |
T |
A |
5: 140,746,717 (GRCm39) |
I243F |
probably damaging |
Het |
| Itga5 |
A |
T |
15: 103,265,212 (GRCm39) |
W232R |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,680,498 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
C |
T |
10: 127,425,423 (GRCm39) |
|
probably null |
Het |
| Mast4 |
T |
C |
13: 102,872,148 (GRCm39) |
M2215V |
probably benign |
Het |
| Mfap5 |
T |
C |
6: 122,502,945 (GRCm39) |
Y52H |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,904,991 (GRCm39) |
K127E |
possibly damaging |
Het |
| Mto1 |
C |
T |
9: 78,368,311 (GRCm39) |
T485M |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,333,257 (GRCm39) |
C107Y |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,638,132 (GRCm39) |
|
probably benign |
Het |
| Nek2 |
A |
G |
1: 191,561,597 (GRCm39) |
E360G |
probably benign |
Het |
| Notch1 |
T |
A |
2: 26,352,540 (GRCm39) |
|
probably benign |
Het |
| Nubp1 |
T |
C |
16: 10,238,050 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,726 (GRCm39) |
R559H |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,117,702 (GRCm39) |
V1684I |
probably benign |
Het |
| Pggt1b |
G |
T |
18: 46,382,007 (GRCm39) |
N258K |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,484,001 (GRCm39) |
V166M |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,052,111 (GRCm39) |
D546G |
possibly damaging |
Het |
| Psapl1 |
T |
C |
5: 36,361,651 (GRCm39) |
V81A |
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,686,863 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,212,299 (GRCm39) |
F347S |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,247 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,771,349 (GRCm39) |
L2557Q |
probably null |
Het |
| Slc1a7 |
T |
C |
4: 107,867,497 (GRCm39) |
|
probably benign |
Het |
| Slc35e2 |
T |
A |
4: 155,696,171 (GRCm39) |
M186K |
possibly damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,550,676 (GRCm39) |
T308A |
probably benign |
Het |
| Snx6 |
G |
T |
12: 54,817,549 (GRCm39) |
S116* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,884,379 (GRCm39) |
|
probably null |
Het |
| Sucla2 |
T |
A |
14: 73,830,109 (GRCm39) |
M382K |
probably damaging |
Het |
| Susd5 |
T |
C |
9: 113,886,659 (GRCm39) |
L16P |
possibly damaging |
Het |
| Tmem260 |
G |
A |
14: 48,724,258 (GRCm39) |
A369T |
possibly damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,336,722 (GRCm39) |
Y393H |
probably damaging |
Het |
| Tnrc6c |
A |
T |
11: 117,613,345 (GRCm39) |
Q501L |
probably damaging |
Het |
| Trim65 |
T |
C |
11: 116,019,108 (GRCm39) |
R144G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,873,547 (GRCm39) |
T601A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,564,688 (GRCm39) |
V28483E |
probably damaging |
Het |
| Ube2l3 |
T |
C |
16: 17,019,340 (GRCm39) |
|
probably null |
Het |
| Ube2l3 |
G |
T |
16: 17,019,336 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,085,318 (GRCm39) |
|
probably benign |
Het |
| Zfat |
A |
G |
15: 68,051,806 (GRCm39) |
S663P |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Trim17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Trim17
|
APN |
11 |
58,861,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02581:Trim17
|
APN |
11 |
58,861,902 (GRCm39) |
nonsense |
probably null |
|
|
P0026:Trim17
|
UTSW |
11 |
58,862,084 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0518:Trim17
|
UTSW |
11 |
58,859,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0521:Trim17
|
UTSW |
11 |
58,859,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0765:Trim17
|
UTSW |
11 |
58,862,195 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1165:Trim17
|
UTSW |
11 |
58,862,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1441:Trim17
|
UTSW |
11 |
58,856,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Trim17
|
UTSW |
11 |
58,862,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Trim17
|
UTSW |
11 |
58,857,624 (GRCm39) |
missense |
probably benign |
|
|
R3436:Trim17
|
UTSW |
11 |
58,856,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Trim17
|
UTSW |
11 |
58,859,276 (GRCm39) |
intron |
probably benign |
|
|
R4832:Trim17
|
UTSW |
11 |
58,862,270 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4928:Trim17
|
UTSW |
11 |
58,845,127 (GRCm39) |
unclassified |
probably benign |
|
|
R4950:Trim17
|
UTSW |
11 |
58,861,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5339:Trim17
|
UTSW |
11 |
58,845,336 (GRCm39) |
splice site |
probably null |
|
|
R5909:Trim17
|
UTSW |
11 |
58,859,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Trim17
|
UTSW |
11 |
58,859,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6732:Trim17
|
UTSW |
11 |
58,861,851 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7027:Trim17
|
UTSW |
11 |
58,859,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7143:Trim17
|
UTSW |
11 |
58,856,010 (GRCm39) |
nonsense |
probably null |
|
|
R7168:Trim17
|
UTSW |
11 |
58,859,404 (GRCm39) |
missense |
probably benign |
|
|
R7682:Trim17
|
UTSW |
11 |
58,857,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7707:Trim17
|
UTSW |
11 |
58,856,110 (GRCm39) |
nonsense |
probably null |
|
|
R7972:Trim17
|
UTSW |
11 |
58,859,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8543:Trim17
|
UTSW |
11 |
58,862,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Trim17
|
UTSW |
11 |
58,862,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8894:Trim17
|
UTSW |
11 |
58,859,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9015:Trim17
|
UTSW |
11 |
58,856,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9026:Trim17
|
UTSW |
11 |
58,862,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9269:Trim17
|
UTSW |
11 |
58,862,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Trim17
|
UTSW |
11 |
58,855,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trim17
|
UTSW |
11 |
58,856,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Trim17
|
UTSW |
11 |
58,861,272 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trim17
|
UTSW |
11 |
58,856,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGTCCCCTCAGAGGAAC -3'
(R):5'- TGTTCTGGAGGCAAAGGATAC -3'
Sequencing Primer
(F):5'- CCTCCTGACAAAAGTGGCTGAG -3'
(R):5'- CCAACTTGCCTGAACTTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation