Incidental Mutation 'R1169:Rnf17'
| ID |
101557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf17
|
| Ensembl Gene |
ENSMUSG00000000365 |
| Gene Name |
ring finger protein 17 |
| Synonyms |
MMIP-2 |
| MMRRC Submission |
039242-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.494)
|
| Stock # |
R1169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56751622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1487
(N1487D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
| AlphaFold |
Q99MV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095793
AA Change: N1487D
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: N1487D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RING
|
9 |
72 |
2e-15 |
BLAST |
|
low complexity region
|
398 |
405 |
N/A |
INTRINSIC |
|
Pfam:TUDOR
|
440 |
522 |
8.2e-8 |
PFAM |
|
TUDOR
|
750 |
807 |
4.32e-12 |
SMART |
|
low complexity region
|
824 |
836 |
N/A |
INTRINSIC |
|
Blast:TUDOR
|
850 |
882 |
1e-8 |
BLAST |
|
low complexity region
|
959 |
970 |
N/A |
INTRINSIC |
|
TUDOR
|
984 |
1042 |
1.29e-1 |
SMART |
|
low complexity region
|
1128 |
1139 |
N/A |
INTRINSIC |
|
TUDOR
|
1245 |
1301 |
7.7e-9 |
SMART |
|
low complexity region
|
1416 |
1430 |
N/A |
INTRINSIC |
|
TUDOR
|
1495 |
1554 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225737
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
T |
C |
10: 80,419,781 (GRCm39) |
E275G |
probably damaging |
Het |
| Adam10 |
T |
A |
9: 70,653,574 (GRCm39) |
I123N |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,563,842 (GRCm39) |
L715Q |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,471,101 (GRCm39) |
F418L |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,508,401 (GRCm39) |
I1322K |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,095,468 (GRCm38) |
S389P |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,961,946 (GRCm39) |
L100Q |
probably benign |
Het |
| Cacul1 |
G |
A |
19: 60,568,846 (GRCm39) |
A104V |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,866 (GRCm39) |
F512S |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,299,454 (GRCm39) |
V61A |
possibly damaging |
Het |
| Cfap251 |
GGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGA |
5: 123,392,673 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,955,994 (GRCm39) |
F531Y |
probably damaging |
Het |
| Clec2h |
C |
T |
6: 128,651,758 (GRCm39) |
Q156* |
probably null |
Het |
| Clip2 |
T |
A |
5: 134,521,104 (GRCm39) |
E978V |
probably benign |
Het |
| Cnpy2 |
T |
G |
10: 128,159,465 (GRCm39) |
L34R |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,921,265 (GRCm39) |
C114S |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,749,736 (GRCm39) |
V366E |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,774,173 (GRCm39) |
|
probably null |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,676,254 (GRCm39) |
|
probably null |
Het |
| Dok1 |
A |
G |
6: 83,009,029 (GRCm39) |
F218L |
possibly damaging |
Het |
| Dph7 |
T |
A |
2: 24,856,583 (GRCm39) |
N178K |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,117 (GRCm39) |
E800D |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,031,463 (GRCm39) |
Q205L |
possibly damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,240,433 (GRCm39) |
H265R |
probably benign |
Het |
| Gli1 |
T |
A |
10: 127,174,320 (GRCm39) |
S24C |
probably damaging |
Het |
| Gm4894 |
T |
A |
9: 49,185,526 (GRCm39) |
C43* |
probably null |
Het |
| Gpbp1l1 |
C |
T |
4: 116,431,563 (GRCm39) |
H74Y |
possibly damaging |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,331 (GRCm39) |
F59I |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,499,161 (GRCm39) |
N211S |
possibly damaging |
Het |
| Ifnlr1 |
T |
G |
4: 135,432,419 (GRCm39) |
F285C |
probably benign |
Het |
| Igf1r |
G |
T |
7: 67,814,875 (GRCm39) |
V259L |
probably benign |
Het |
| Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
| Ighg2c |
A |
T |
12: 113,249,572 (GRCm39) |
|
probably benign |
Het |
| Ighv8-14 |
A |
T |
12: 115,772,075 (GRCm39) |
|
probably null |
Het |
| Iqsec2 |
A |
G |
X: 150,927,727 (GRCm39) |
S87G |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,689,694 (GRCm39) |
K589R |
probably damaging |
Het |
| Khdc1a |
A |
C |
1: 21,420,495 (GRCm39) |
E38D |
possibly damaging |
Het |
| Krt42 |
T |
G |
11: 100,154,171 (GRCm39) |
|
probably null |
Het |
| Lpo |
T |
C |
11: 87,708,143 (GRCm39) |
N183S |
possibly damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,764 (GRCm39) |
Y224F |
probably damaging |
Het |
| Ly6g6f |
T |
A |
17: 35,302,240 (GRCm39) |
D99V |
probably damaging |
Het |
| Lyplal1 |
T |
C |
1: 185,846,531 (GRCm39) |
I42V |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,190,057 (GRCm39) |
Q793* |
probably null |
Het |
| Myh10 |
T |
G |
11: 68,653,667 (GRCm39) |
M346R |
probably damaging |
Het |
| Nav1 |
G |
T |
1: 135,382,943 (GRCm39) |
H1256Q |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,875,744 (GRCm39) |
V1642A |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,853 (GRCm39) |
R19H |
probably benign |
Het |
| Or8b12i |
T |
C |
9: 20,082,354 (GRCm39) |
N171S |
probably benign |
Het |
| Or8i2 |
A |
G |
2: 86,852,061 (GRCm39) |
F276L |
probably damaging |
Het |
| Or8k28 |
A |
G |
2: 86,285,931 (GRCm39) |
I228T |
possibly damaging |
Het |
| Orm3 |
G |
A |
4: 63,276,085 (GRCm39) |
V166M |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,120,708 (GRCm39) |
I264N |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,706,244 (GRCm39) |
V55I |
probably benign |
Het |
| Pde4d |
C |
A |
13: 110,087,462 (GRCm39) |
|
probably null |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,383 (GRCm39) |
N258S |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,146,994 (GRCm39) |
K275E |
possibly damaging |
Het |
| Prl7b1 |
C |
A |
13: 27,790,887 (GRCm39) |
R66L |
possibly damaging |
Het |
| Ptpre |
G |
T |
7: 135,269,341 (GRCm39) |
C261F |
probably benign |
Het |
| Rho |
C |
G |
6: 115,909,199 (GRCm39) |
N78K |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,563,359 (GRCm39) |
T2922I |
probably benign |
Het |
| Saxo2 |
A |
C |
7: 82,284,379 (GRCm39) |
F160V |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,909,391 (GRCm39) |
Y1786N |
probably benign |
Het |
| Sdad1 |
A |
T |
5: 92,446,092 (GRCm39) |
V280E |
probably benign |
Het |
| Sgsm1 |
T |
C |
5: 113,427,351 (GRCm39) |
D90G |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,916,747 (GRCm39) |
D1169E |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,857,618 (GRCm39) |
V456E |
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,785,710 (GRCm39) |
I52N |
possibly damaging |
Het |
| Slc27a1 |
C |
A |
8: 72,033,297 (GRCm39) |
R280S |
probably benign |
Het |
| Slc9a3 |
G |
A |
13: 74,298,862 (GRCm39) |
V94I |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,185,269 (GRCm39) |
V936L |
possibly damaging |
Het |
| Syce1 |
A |
G |
7: 140,358,120 (GRCm39) |
F255S |
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,150,483 (GRCm39) |
S350L |
probably benign |
Het |
| Tmem200a |
T |
A |
10: 25,870,246 (GRCm39) |
I8F |
probably damaging |
Het |
| Trip6 |
T |
C |
5: 137,310,182 (GRCm39) |
H322R |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,517 (GRCm39) |
N177K |
probably benign |
Het |
|
| Other mutations in Rnf17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Rnf17
|
APN |
14 |
56,658,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00717:Rnf17
|
APN |
14 |
56,703,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00978:Rnf17
|
APN |
14 |
56,749,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Rnf17
|
APN |
14 |
56,700,521 (GRCm39) |
nonsense |
probably null |
|
|
IGL01779:Rnf17
|
APN |
14 |
56,699,520 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02132:Rnf17
|
APN |
14 |
56,658,623 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02183:Rnf17
|
APN |
14 |
56,745,325 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL02387:Rnf17
|
APN |
14 |
56,738,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02422:Rnf17
|
APN |
14 |
56,719,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Rnf17
|
APN |
14 |
56,671,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03269:Rnf17
|
APN |
14 |
56,665,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
divest
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
Shed
|
UTSW |
14 |
56,749,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Rnf17
|
UTSW |
14 |
56,708,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Rnf17
|
UTSW |
14 |
56,708,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Rnf17
|
UTSW |
14 |
56,751,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0189:Rnf17
|
UTSW |
14 |
56,719,650 (GRCm39) |
missense |
probably null |
1.00 |
|
R0243:Rnf17
|
UTSW |
14 |
56,719,541 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0245:Rnf17
|
UTSW |
14 |
56,676,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0486:Rnf17
|
UTSW |
14 |
56,751,632 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0554:Rnf17
|
UTSW |
14 |
56,760,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Rnf17
|
UTSW |
14 |
56,712,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Rnf17
|
UTSW |
14 |
56,663,088 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1200:Rnf17
|
UTSW |
14 |
56,705,163 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1464:Rnf17
|
UTSW |
14 |
56,699,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Rnf17
|
UTSW |
14 |
56,699,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Rnf17
|
UTSW |
14 |
56,665,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Rnf17
|
UTSW |
14 |
56,705,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1605:Rnf17
|
UTSW |
14 |
56,730,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Rnf17
|
UTSW |
14 |
56,759,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1791:Rnf17
|
UTSW |
14 |
56,741,464 (GRCm39) |
nonsense |
probably null |
|
|
R2015:Rnf17
|
UTSW |
14 |
56,724,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2023:Rnf17
|
UTSW |
14 |
56,669,036 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2086:Rnf17
|
UTSW |
14 |
56,720,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2130:Rnf17
|
UTSW |
14 |
56,730,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2309:Rnf17
|
UTSW |
14 |
56,743,439 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3003:Rnf17
|
UTSW |
14 |
56,738,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3611:Rnf17
|
UTSW |
14 |
56,705,197 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3847:Rnf17
|
UTSW |
14 |
56,749,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Rnf17
|
UTSW |
14 |
56,749,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Rnf17
|
UTSW |
14 |
56,749,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3850:Rnf17
|
UTSW |
14 |
56,749,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Rnf17
|
UTSW |
14 |
56,712,870 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3874:Rnf17
|
UTSW |
14 |
56,712,870 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4021:Rnf17
|
UTSW |
14 |
56,697,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4022:Rnf17
|
UTSW |
14 |
56,697,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4790:Rnf17
|
UTSW |
14 |
56,671,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Rnf17
|
UTSW |
14 |
56,759,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Rnf17
|
UTSW |
14 |
56,743,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5069:Rnf17
|
UTSW |
14 |
56,743,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Rnf17
|
UTSW |
14 |
56,743,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5518:Rnf17
|
UTSW |
14 |
56,719,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Rnf17
|
UTSW |
14 |
56,724,409 (GRCm39) |
splice site |
probably null |
|
|
R5712:Rnf17
|
UTSW |
14 |
56,708,856 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5747:Rnf17
|
UTSW |
14 |
56,703,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5869:Rnf17
|
UTSW |
14 |
56,743,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6336:Rnf17
|
UTSW |
14 |
56,658,626 (GRCm39) |
splice site |
probably null |
|
|
R6626:Rnf17
|
UTSW |
14 |
56,665,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6639:Rnf17
|
UTSW |
14 |
56,676,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6675:Rnf17
|
UTSW |
14 |
56,697,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Rnf17
|
UTSW |
14 |
56,761,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7062:Rnf17
|
UTSW |
14 |
56,703,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Rnf17
|
UTSW |
14 |
56,708,763 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7144:Rnf17
|
UTSW |
14 |
56,749,789 (GRCm39) |
splice site |
probably null |
|
|
R7527:Rnf17
|
UTSW |
14 |
56,753,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Rnf17
|
UTSW |
14 |
56,676,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Rnf17
|
UTSW |
14 |
56,699,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7772:Rnf17
|
UTSW |
14 |
56,715,144 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8092:Rnf17
|
UTSW |
14 |
56,724,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8150:Rnf17
|
UTSW |
14 |
56,658,593 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8203:Rnf17
|
UTSW |
14 |
56,705,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8320:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8321:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8379:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8380:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8381:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8382:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8383:Rnf17
|
UTSW |
14 |
56,661,999 (GRCm39) |
frame shift |
probably null |
|
|
R8799:Rnf17
|
UTSW |
14 |
56,737,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Rnf17
|
UTSW |
14 |
56,722,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Rnf17
|
UTSW |
14 |
56,761,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Rnf17
|
UTSW |
14 |
56,719,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9300:Rnf17
|
UTSW |
14 |
56,697,495 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9375:Rnf17
|
UTSW |
14 |
56,719,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Rnf17
|
UTSW |
14 |
56,722,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rnf17
|
UTSW |
14 |
56,705,163 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation