Incidental Mutation 'R5069:Rnf17'
ID |
500870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
MMRRC Submission |
042659-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.494)
|
Stock # |
R5069 (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 56743385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1317
(V1317A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
AlphaFold |
Q99MV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095793
AA Change: V1317A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: V1317A
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
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 |
3425401B19Rik |
A |
G |
14: 32,383,749 (GRCm39) |
S739P |
possibly damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,303,408 (GRCm39) |
I464T |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,054,325 (GRCm39) |
L1060P |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,220,694 (GRCm39) |
|
probably null |
Het |
Ankar |
T |
C |
1: 72,719,369 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
T |
7: 35,327,860 (GRCm39) |
K793N |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,211,714 (GRCm39) |
T90A |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,184,959 (GRCm39) |
H670L |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,217,736 (GRCm39) |
Y412C |
probably damaging |
Het |
Ass1 |
C |
T |
2: 31,400,185 (GRCm39) |
T301M |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,468,082 (GRCm39) |
C283S |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,619,527 (GRCm39) |
L354P |
probably damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,458 (GRCm39) |
N126S |
probably benign |
Het |
Cfap54 |
A |
C |
10: 92,773,636 (GRCm39) |
F135L |
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,503,113 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,632,013 (GRCm39) |
H1314R |
probably benign |
Het |
Dsp |
A |
C |
13: 38,381,099 (GRCm39) |
T2615P |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,490,897 (GRCm39) |
C636S |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,727,450 (GRCm39) |
Y513C |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,292,020 (GRCm39) |
V1128A |
probably benign |
Het |
Firrm |
T |
C |
1: 163,815,243 (GRCm39) |
T93A |
possibly damaging |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gm1043 |
T |
G |
5: 37,344,580 (GRCm39) |
L231R |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,364,340 (GRCm39) |
M132K |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,230,546 (GRCm39) |
S496T |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,278,451 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,393,149 (GRCm39) |
C209Y |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,011,953 (GRCm39) |
V178D |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,474,673 (GRCm39) |
|
probably null |
Het |
Letm2 |
G |
A |
8: 26,083,980 (GRCm39) |
Q84* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,793,002 (GRCm39) |
E646G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,676,570 (GRCm39) |
Y372N |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,237,564 (GRCm39) |
C218R |
probably damaging |
Het |
Myof |
A |
T |
19: 37,893,773 (GRCm39) |
I1130N |
possibly damaging |
Het |
Neil3 |
A |
G |
8: 54,054,076 (GRCm39) |
S318P |
possibly damaging |
Het |
Nhlh1 |
A |
G |
1: 171,881,467 (GRCm39) |
V133A |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,863,268 (GRCm39) |
S331A |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,794,862 (GRCm39) |
T882A |
probably benign |
Het |
Or11g2 |
T |
A |
14: 50,856,197 (GRCm39) |
C173S |
probably damaging |
Het |
Or11h4 |
C |
A |
14: 50,974,531 (GRCm39) |
L29F |
probably benign |
Het |
Or52ab4 |
A |
T |
7: 102,987,229 (GRCm39) |
|
probably null |
Het |
Or9s23 |
T |
A |
1: 92,501,135 (GRCm39) |
S81T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,177,025 (GRCm39) |
M675K |
possibly damaging |
Het |
Pex5 |
A |
G |
6: 124,390,555 (GRCm39) |
S97P |
probably benign |
Het |
Pitpnm1 |
C |
T |
19: 4,161,140 (GRCm39) |
A897V |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,942,862 (GRCm39) |
V1274E |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,627,561 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
G |
A |
7: 144,068,210 (GRCm39) |
Q446* |
probably null |
Het |
Psma2 |
G |
A |
13: 14,790,613 (GRCm39) |
V20I |
probably benign |
Het |
Pwwp4a |
T |
C |
X: 72,171,577 (GRCm39) |
I323T |
probably damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,711,710 (GRCm39) |
L149* |
probably null |
Het |
Rtel1 |
G |
A |
2: 180,997,285 (GRCm39) |
V1042M |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,850,759 (GRCm39) |
|
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,424,343 (GRCm39) |
A434T |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,324,854 (GRCm39) |
N142I |
possibly damaging |
Het |
Slc4a10 |
G |
A |
2: 62,097,915 (GRCm39) |
R508H |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,722,460 (GRCm39) |
I98F |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,923,692 (GRCm39) |
S169T |
possibly damaging |
Het |
Snx33 |
A |
T |
9: 56,833,475 (GRCm39) |
I198N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,808,299 (GRCm39) |
T396A |
probably benign |
Het |
Sva |
A |
T |
6: 42,015,351 (GRCm39) |
|
probably benign |
Het |
Syt7 |
A |
G |
19: 10,416,601 (GRCm39) |
N261S |
probably benign |
Het |
Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
Thoc2 |
C |
T |
X: 40,895,570 (GRCm39) |
E1491K |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,083,743 (GRCm39) |
Y278C |
probably benign |
Het |
Tph2 |
T |
A |
10: 114,987,079 (GRCm39) |
Y237F |
probably benign |
Het |
Trim35 |
C |
T |
14: 66,546,421 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,959,893 (GRCm39) |
Y667S |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,106,337 (GRCm39) |
H541Q |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,851,387 (GRCm39) |
H709R |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,243,166 (GRCm39) |
V615I |
probably benign |
Het |
Wars2 |
A |
G |
3: 99,094,849 (GRCm39) |
H48R |
probably damaging |
Het |
Xlr4c |
T |
A |
X: 72,282,290 (GRCm39) |
K121M |
probably damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,254,688 (GRCm39) |
C1427* |
probably null |
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 |
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 |
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'- CAGCTGCTGAACCATCTCTCTAG -3'
(R):5'- ATTAGGCTTGCTCAAAACAGC -3'
Sequencing Primer
(F):5'- ATCTCTCTAGCCCCCAAGTAG -3'
(R):5'- GCTCAAAACAGCAATGTCTTATATG -3'
|
Posted On |
2017-12-01 |