Incidental Mutation 'R0486:Rnf17'
ID |
42304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
MMRRC Submission |
038685-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
R0486 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56751632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1490
(T1490M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
AlphaFold |
Q99MV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095793
AA Change: T1490M
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: T1490M
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
98% (65/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
T |
C |
4: 40,177,783 (GRCm39) |
L268P |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,380,048 (GRCm39) |
H83Q |
probably damaging |
Het |
Anln |
T |
C |
9: 22,264,122 (GRCm39) |
D886G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,596,159 (GRCm39) |
|
probably null |
Het |
Ark2c |
T |
A |
18: 77,571,950 (GRCm39) |
Q91L |
probably damaging |
Het |
Arl8b |
A |
T |
6: 108,792,287 (GRCm39) |
D116V |
possibly damaging |
Het |
BC051665 |
C |
T |
13: 60,931,859 (GRCm39) |
G180D |
probably damaging |
Het |
Bloc1s2 |
A |
G |
19: 44,131,589 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
T |
G |
1: 182,575,424 (GRCm39) |
S422R |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,915,408 (GRCm39) |
K720E |
possibly damaging |
Het |
Cdh23 |
C |
A |
10: 60,222,725 (GRCm39) |
A1236S |
probably damaging |
Het |
Chd1 |
G |
A |
17: 15,954,604 (GRCm39) |
A491T |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,754,815 (GRCm39) |
V275A |
possibly damaging |
Het |
Cmtm2b |
A |
T |
8: 105,057,047 (GRCm39) |
I136F |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,204,551 (GRCm39) |
V457A |
probably damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,103,129 (GRCm39) |
V362A |
probably benign |
Het |
Cyp4f17 |
T |
C |
17: 32,743,797 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
C |
A |
8: 72,749,861 (GRCm39) |
V263L |
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,529,922 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,866,640 (GRCm39) |
I446T |
probably benign |
Het |
F11r |
T |
C |
1: 171,288,156 (GRCm39) |
W61R |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,646,550 (GRCm39) |
|
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,791,499 (GRCm39) |
V669A |
possibly damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,314 (GRCm39) |
|
probably benign |
Het |
Foxo3 |
A |
G |
10: 42,073,477 (GRCm39) |
Y347H |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gbp7 |
C |
A |
3: 142,252,078 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
T |
C |
10: 111,832,754 (GRCm39) |
|
probably benign |
Het |
Gm11555 |
A |
G |
11: 99,540,986 (GRCm39) |
S8P |
unknown |
Het |
H6pd |
G |
A |
4: 150,067,393 (GRCm39) |
|
probably benign |
Het |
Haus8 |
C |
T |
8: 71,709,182 (GRCm39) |
M75I |
probably benign |
Het |
Haus8 |
C |
A |
8: 71,709,181 (GRCm39) |
G76W |
probably damaging |
Het |
Kcnj13 |
C |
A |
1: 87,314,752 (GRCm39) |
V157L |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,437,218 (GRCm39) |
C550* |
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,107 (GRCm39) |
N615S |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
Ngef |
T |
A |
1: 87,406,848 (GRCm39) |
N640I |
probably damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,359,858 (GRCm39) |
Y335C |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,368,354 (GRCm39) |
|
probably benign |
Het |
Nop2 |
A |
G |
6: 125,117,636 (GRCm39) |
K434R |
probably null |
Het |
Nr4a3 |
T |
C |
4: 48,056,525 (GRCm39) |
|
probably benign |
Het |
Or8b35 |
A |
G |
9: 37,903,998 (GRCm39) |
N70S |
possibly damaging |
Het |
Piezo2 |
A |
C |
18: 63,162,132 (GRCm39) |
I2233R |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,613,787 (GRCm39) |
E1113V |
probably damaging |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Psmd1 |
T |
A |
1: 86,022,012 (GRCm39) |
N611K |
probably damaging |
Het |
Ptpn7 |
C |
T |
1: 135,065,096 (GRCm39) |
T168I |
probably damaging |
Het |
Pus1 |
A |
T |
5: 110,927,596 (GRCm39) |
V53E |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,093,028 (GRCm39) |
M415T |
probably damaging |
Het |
Rnf20 |
C |
A |
4: 49,645,907 (GRCm39) |
L332I |
possibly damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spam1 |
A |
T |
6: 24,796,394 (GRCm39) |
Q115L |
probably damaging |
Het |
Syce1l |
A |
T |
8: 114,381,395 (GRCm39) |
|
probably null |
Het |
Synj1 |
T |
C |
16: 90,735,151 (GRCm39) |
|
probably benign |
Het |
Tas2r126 |
A |
T |
6: 42,412,225 (GRCm39) |
I253F |
probably benign |
Het |
Tecpr2 |
G |
A |
12: 110,862,803 (GRCm39) |
V72I |
probably benign |
Het |
Tfap2a |
G |
T |
13: 40,882,170 (GRCm39) |
P45Q |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,738,805 (GRCm39) |
G714* |
probably null |
Het |
Wdr31 |
A |
G |
4: 62,372,130 (GRCm39) |
S330P |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,622,769 (GRCm39) |
|
probably benign |
Het |
Yes1 |
T |
A |
5: 32,812,926 (GRCm39) |
Y343* |
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 |
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 |
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'- GCGGTCTCTTGGTACAAGATCAGTG -3'
(R):5'- AGTCATGCAGAGCAGAACTGTCCC -3'
Sequencing Primer
(F):5'- CGTTCCAGAAATGGCAGAATC -3'
(R):5'- GATGATTAACTCACTTGGGTCACC -3'
|
Posted On |
2013-05-23 |