Incidental Mutation 'R1512:Rnf17'
ID |
168446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
MMRRC Submission |
039559-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
R1512 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56705243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 716
(T716S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
[ENSMUST00000223627]
|
AlphaFold |
Q99MV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095793
AA Change: T716S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: T716S
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: ENSMUST00000223627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225621
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
95% (79/83) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,086,295 (GRCm39) |
D40E |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,452,224 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
C |
T |
18: 59,181,917 (GRCm39) |
H1119Y |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,983,937 (GRCm39) |
D827G |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,375 (GRCm39) |
D55G |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,229,316 (GRCm39) |
H569Q |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,346,510 (GRCm39) |
D548G |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,960,021 (GRCm39) |
D1433G |
possibly damaging |
Het |
BC031181 |
T |
G |
18: 75,141,767 (GRCm39) |
V8G |
probably damaging |
Het |
Bicdl2 |
A |
T |
17: 23,887,083 (GRCm39) |
M457L |
probably damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,615,103 (GRCm39) |
D29G |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,586,390 (GRCm39) |
T7S |
probably benign |
Het |
Cdc37 |
A |
G |
9: 21,053,712 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,267 (GRCm39) |
S526P |
probably damaging |
Het |
Cntn2 |
G |
T |
1: 132,451,430 (GRCm39) |
A433D |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,828,680 (GRCm39) |
S35P |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,923,777 (GRCm39) |
T96A |
possibly damaging |
Het |
Ctbs |
A |
G |
3: 146,160,720 (GRCm39) |
N96D |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,979 (GRCm39) |
V213L |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,138,835 (GRCm39) |
L536P |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,179,589 (GRCm39) |
Q517R |
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,014,994 (GRCm39) |
Q1733K |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,841 (GRCm39) |
I1416N |
probably benign |
Het |
Dock11 |
G |
A |
X: 35,283,688 (GRCm39) |
R1102H |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,971,096 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
A |
4: 139,087,495 (GRCm39) |
|
probably null |
Het |
Emc8 |
A |
G |
8: 121,384,983 (GRCm39) |
L76P |
possibly damaging |
Het |
Emx2 |
T |
C |
19: 59,448,035 (GRCm39) |
Y130H |
possibly damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,753 (GRCm39) |
R815Q |
probably damaging |
Het |
Foxb2 |
G |
A |
19: 16,849,878 (GRCm39) |
P376L |
probably damaging |
Het |
Gabrb1 |
C |
A |
5: 72,266,047 (GRCm39) |
L202I |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,266,048 (GRCm39) |
L202Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,144,676 (GRCm39) |
I617F |
probably damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,728,933 (GRCm39) |
V164E |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,731 (GRCm39) |
Q88R |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,788 (GRCm39) |
K75N |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Ivns1abp |
A |
T |
1: 151,236,687 (GRCm39) |
Q416L |
possibly damaging |
Het |
Ivns1abp |
G |
C |
1: 151,236,688 (GRCm39) |
Q416H |
probably benign |
Het |
Kcnh5 |
T |
A |
12: 75,166,711 (GRCm39) |
H178L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,543 (GRCm39) |
N579S |
probably benign |
Het |
Kif26a |
G |
C |
12: 112,113,389 (GRCm39) |
R95P |
possibly damaging |
Het |
Kl |
A |
G |
5: 150,912,062 (GRCm39) |
I604V |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,941,686 (GRCm39) |
K545E |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,347 (GRCm39) |
I153M |
probably damaging |
Het |
Meis1 |
T |
G |
11: 18,831,682 (GRCm39) |
D452A |
probably damaging |
Het |
Msantd4 |
C |
T |
9: 4,384,138 (GRCm39) |
P153L |
probably benign |
Het |
Myot |
A |
G |
18: 44,475,422 (GRCm39) |
E181G |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,281,195 (GRCm39) |
F150S |
probably damaging |
Het |
Nyap2 |
T |
A |
1: 81,219,566 (GRCm39) |
S529R |
probably damaging |
Het |
Or10d3 |
T |
C |
9: 39,461,390 (GRCm39) |
Y259C |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,988 (GRCm39) |
T275S |
probably benign |
Het |
Or2y1c |
A |
G |
11: 49,361,286 (GRCm39) |
I103V |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,660 (GRCm39) |
Y224* |
probably null |
Het |
Pcnt |
C |
T |
10: 76,240,496 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,455,289 (GRCm39) |
|
probably null |
Het |
Pkdcc |
A |
T |
17: 83,527,473 (GRCm39) |
Y217F |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,585,459 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,488,190 (GRCm39) |
M26V |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,842 (GRCm39) |
N12S |
possibly damaging |
Het |
Ppp1r26 |
G |
A |
2: 28,341,528 (GRCm39) |
R386K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,248,697 (GRCm39) |
E355G |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,131,554 (GRCm39) |
F41S |
possibly damaging |
Het |
Prkar1b |
G |
T |
5: 139,036,428 (GRCm39) |
Y231* |
probably null |
Het |
Prkdc |
A |
T |
16: 15,505,268 (GRCm39) |
I857L |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,390,425 (GRCm39) |
N10K |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,655,382 (GRCm39) |
V444E |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,578,315 (GRCm39) |
R577H |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,161,629 (GRCm39) |
N306K |
possibly damaging |
Het |
Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,364,959 (GRCm39) |
M1T |
probably null |
Het |
Stag3 |
A |
T |
5: 138,296,247 (GRCm39) |
T437S |
probably benign |
Het |
Tal2 |
A |
G |
4: 53,786,107 (GRCm39) |
Y96C |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,613,991 (GRCm39) |
|
probably null |
Het |
Tle1 |
T |
C |
4: 72,059,495 (GRCm39) |
D19G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,964,468 (GRCm39) |
I690T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,853,295 (GRCm39) |
M1772L |
probably benign |
Het |
Unc5b |
G |
A |
10: 60,667,254 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,041,561 (GRCm39) |
V2014F |
probably damaging |
Het |
Utp18 |
C |
T |
11: 93,776,390 (GRCm39) |
A32T |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,682,765 (GRCm39) |
V2981A |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,079,738 (GRCm39) |
V349A |
probably damaging |
Het |
Znfx1 |
A |
C |
2: 166,898,237 (GRCm39) |
I229S |
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 |
R1472:Rnf17
|
UTSW |
14 |
56,665,436 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACATGCTTTTGACCAGTCTCAGCTC -3'
(R):5'- TGAGAGACCAATGACAAGCCTGC -3'
Sequencing Primer
(F):5'- AGCTCCAGAGTCCTCTGATAG -3'
(R):5'- GTTGGAATTAGCTTTCCCAGTC -3'
|
Posted On |
2014-04-13 |