Incidental Mutation 'R1472:Rnf17'
ID |
165035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
MMRRC Submission |
039525-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
R1472 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56665436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 196
(L196P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
[ENSMUST00000223627]
|
AlphaFold |
Q99MV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095793
AA Change: L196P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: L196P
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 damaging
Transcript: ENSMUST00000223627
AA Change: L196P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225361
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,773,313 (GRCm39) |
T834M |
possibly damaging |
Het |
Ak1 |
T |
C |
2: 32,520,313 (GRCm39) |
L32P |
probably damaging |
Het |
Ankrd24 |
A |
G |
10: 81,470,754 (GRCm39) |
D61G |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Bmp10 |
A |
G |
6: 87,410,779 (GRCm39) |
I191V |
probably benign |
Het |
C2cd6 |
A |
T |
1: 59,106,944 (GRCm39) |
S294T |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,962,743 (GRCm39) |
K20* |
probably null |
Het |
Caps2 |
C |
T |
10: 112,015,377 (GRCm39) |
T139I |
probably benign |
Het |
Cdc25a |
T |
C |
9: 109,705,157 (GRCm39) |
S34P |
probably benign |
Het |
Cenpv |
T |
C |
11: 62,427,121 (GRCm39) |
I146V |
probably benign |
Het |
Cep57 |
A |
T |
9: 13,732,850 (GRCm39) |
F32I |
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,059,329 (GRCm39) |
|
probably null |
Het |
Cpd |
A |
G |
11: 76,675,224 (GRCm39) |
V1299A |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,752,092 (GRCm39) |
V283A |
probably benign |
Het |
Crot |
A |
G |
5: 9,016,941 (GRCm39) |
C584R |
probably damaging |
Het |
Ctsc |
A |
C |
7: 87,930,670 (GRCm39) |
H83P |
possibly damaging |
Het |
Dido1 |
T |
C |
2: 180,302,513 (GRCm39) |
N1797S |
probably benign |
Het |
Dlgap4 |
C |
T |
2: 156,602,821 (GRCm39) |
Q148* |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,670,181 (GRCm39) |
D688G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,843,472 (GRCm39) |
E138G |
probably benign |
Het |
Edc4 |
T |
A |
8: 106,619,460 (GRCm39) |
M1396K |
probably damaging |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Hsd3b6 |
A |
T |
3: 98,715,255 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
A |
17: 27,333,199 (GRCm39) |
I1937N |
probably benign |
Het |
Kcnk15 |
C |
A |
2: 163,700,127 (GRCm39) |
T103K |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,864,541 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
A |
18: 12,615,102 (GRCm39) |
F1342Y |
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,915,718 (GRCm39) |
M98K |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,668,417 (GRCm39) |
S668P |
probably benign |
Het |
Mcpt8 |
T |
C |
14: 56,319,791 (GRCm39) |
T220A |
probably benign |
Het |
Mettl13 |
C |
T |
1: 162,364,736 (GRCm39) |
V548I |
possibly damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,767,860 (GRCm39) |
M411T |
probably benign |
Het |
Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,978,137 (GRCm39) |
I1302V |
probably benign |
Het |
Mrpl45 |
C |
T |
11: 97,214,681 (GRCm39) |
R123* |
probably null |
Het |
Mstn |
T |
A |
1: 53,101,157 (GRCm39) |
I78K |
probably damaging |
Het |
Mtdh |
T |
C |
15: 34,114,191 (GRCm39) |
S168P |
possibly damaging |
Het |
Muc15 |
G |
T |
2: 110,561,905 (GRCm39) |
V114F |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Myocd |
G |
T |
11: 65,078,330 (GRCm39) |
H360Q |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,563,802 (GRCm39) |
E1627G |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,781,910 (GRCm39) |
L369P |
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,503,408 (GRCm39) |
T505A |
probably damaging |
Het |
Npbwr1 |
T |
C |
1: 5,986,900 (GRCm39) |
S205G |
probably damaging |
Het |
Nsmaf |
G |
A |
4: 6,423,448 (GRCm39) |
R307* |
probably null |
Het |
Or5h19 |
A |
T |
16: 58,856,920 (GRCm39) |
L60Q |
probably damaging |
Het |
Or9i1b |
T |
C |
19: 13,897,208 (GRCm39) |
S275P |
probably damaging |
Het |
Parp9 |
T |
G |
16: 35,774,050 (GRCm39) |
S341A |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,289,533 (GRCm39) |
N346S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,263,360 (GRCm39) |
F503Y |
probably damaging |
Het |
Polr1e |
G |
T |
4: 45,028,026 (GRCm39) |
A290S |
probably damaging |
Het |
Ppp1r21 |
A |
T |
17: 88,866,033 (GRCm39) |
H305L |
probably damaging |
Het |
Prss47 |
A |
G |
13: 65,197,103 (GRCm39) |
L117P |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rcn2 |
C |
T |
9: 55,963,537 (GRCm39) |
P222L |
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,396,361 (GRCm39) |
Y233H |
probably damaging |
Het |
Sik2 |
A |
G |
9: 50,920,111 (GRCm39) |
I22T |
probably damaging |
Het |
Sis |
A |
G |
3: 72,796,360 (GRCm39) |
V1807A |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,110,916 (GRCm39) |
F437S |
probably benign |
Het |
Slc39a13 |
A |
T |
2: 90,899,050 (GRCm39) |
C20* |
probably null |
Het |
Sos2 |
C |
T |
12: 69,632,090 (GRCm39) |
|
probably null |
Het |
Sst |
A |
G |
16: 23,709,448 (GRCm39) |
V16A |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,863,543 (GRCm39) |
G2073D |
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sugct |
A |
T |
13: 17,627,131 (GRCm39) |
C241S |
probably benign |
Het |
Svil |
T |
A |
18: 5,048,950 (GRCm39) |
C76S |
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,663,382 (GRCm39) |
V166A |
possibly damaging |
Het |
Tmem131 |
A |
T |
1: 36,855,322 (GRCm39) |
N801K |
possibly damaging |
Het |
Tox3 |
T |
C |
8: 90,980,973 (GRCm39) |
N277S |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
Tshz1 |
A |
C |
18: 84,031,930 (GRCm39) |
L826R |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,597,196 (GRCm39) |
V19906I |
probably damaging |
Het |
Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
Wnt5b |
G |
A |
6: 119,410,442 (GRCm39) |
R333C |
probably damaging |
Het |
Zbtb6 |
T |
C |
2: 37,319,356 (GRCm39) |
T191A |
probably benign |
Het |
Zc3h4 |
A |
G |
7: 16,168,695 (GRCm39) |
N935D |
unknown |
Het |
Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
Zfp110 |
T |
C |
7: 12,582,468 (GRCm39) |
V372A |
possibly damaging |
Het |
Zmym2 |
C |
T |
14: 57,148,640 (GRCm39) |
S318L |
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 |
R1169:Rnf17
|
UTSW |
14 |
56,751,622 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
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 |
PCR Primer
(F):5'- AACACCTCTGTGGCTGTTTGGG -3'
(R):5'- TGGAGCAAGAGGATCATGTTTGTGC -3'
Sequencing Primer
(F):5'- CTGTTTGGGAAAGTCTAGAAAGTATC -3'
(R):5'- cacacacacacacacacac -3'
|
Posted On |
2014-03-28 |