Incidental Mutation 'R7062:Rnf17'
ID |
548362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
MMRRC Submission |
045158-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
R7062 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56703111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 621
(V621L)
|
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: V621L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: V621L
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (86/87) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,544,872 (GRCm39) |
D1370V |
probably damaging |
Het |
Ackr1 |
A |
T |
1: 173,159,682 (GRCm39) |
I279N |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,366,091 (GRCm39) |
H536R |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,865,166 (GRCm39) |
T226A |
possibly damaging |
Het |
Apol10b |
T |
A |
15: 77,469,473 (GRCm39) |
M235L |
probably benign |
Het |
Arhgap44 |
T |
C |
11: 64,902,758 (GRCm39) |
T570A |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,516,081 (GRCm39) |
|
probably null |
Het |
Camsap3 |
A |
G |
8: 3,657,834 (GRCm39) |
|
probably benign |
Het |
Ccdc73 |
C |
T |
2: 104,782,223 (GRCm39) |
A193V |
probably damaging |
Het |
Ccl20 |
G |
A |
1: 83,095,535 (GRCm39) |
C32Y |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,711,268 (GRCm39) |
E16G |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,309,826 (GRCm39) |
N1591I |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,456,785 (GRCm39) |
E306G |
probably benign |
Het |
Cpa1 |
C |
T |
6: 30,640,676 (GRCm39) |
A106V |
probably benign |
Het |
Ctdspl |
G |
A |
9: 118,866,538 (GRCm39) |
R199H |
probably damaging |
Het |
Cyfip2 |
G |
A |
11: 46,151,659 (GRCm39) |
P547S |
probably damaging |
Het |
Cyp2c37 |
A |
T |
19: 39,983,990 (GRCm39) |
|
probably null |
Het |
Dnajc16 |
A |
G |
4: 141,494,001 (GRCm39) |
F549L |
probably damaging |
Het |
Dnm3 |
T |
A |
1: 161,962,060 (GRCm39) |
K50* |
probably null |
Het |
Eci1 |
C |
T |
17: 24,645,714 (GRCm39) |
|
probably benign |
Het |
Eif2b4 |
C |
T |
5: 31,350,175 (GRCm39) |
C49Y |
probably benign |
Het |
Emc3 |
A |
T |
6: 113,499,757 (GRCm39) |
I56N |
probably damaging |
Het |
Enthd1 |
A |
G |
15: 80,336,745 (GRCm39) |
L563P |
probably damaging |
Het |
Ercc4 |
T |
A |
16: 12,950,811 (GRCm39) |
I635K |
probably damaging |
Het |
Espl1 |
A |
C |
15: 102,207,331 (GRCm39) |
N265T |
probably benign |
Het |
Fads2 |
T |
C |
19: 10,042,962 (GRCm39) |
|
probably null |
Het |
Fam186a |
G |
A |
15: 99,831,521 (GRCm39) |
|
probably benign |
Het |
Fastkd1 |
A |
T |
2: 69,534,666 (GRCm39) |
I368K |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,403,253 (GRCm39) |
M1I |
probably null |
Het |
Foxj1 |
T |
C |
11: 116,222,819 (GRCm39) |
E328G |
probably benign |
Het |
Gfod2 |
T |
C |
8: 106,449,508 (GRCm39) |
|
probably benign |
Het |
Gm6525 |
C |
T |
3: 84,082,198 (GRCm39) |
R40C |
probably benign |
Het |
Gna12 |
G |
A |
5: 140,771,240 (GRCm39) |
T144I |
probably benign |
Het |
Ighv9-3 |
T |
C |
12: 114,104,712 (GRCm39) |
M11V |
probably benign |
Het |
Kcnj14 |
T |
C |
7: 45,467,314 (GRCm39) |
Y344C |
probably damaging |
Het |
Lrrc63 |
A |
T |
14: 75,323,737 (GRCm39) |
S496T |
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,224,491 (GRCm39) |
T78A |
probably damaging |
Het |
Matr3 |
T |
A |
18: 35,712,072 (GRCm39) |
|
probably null |
Het |
Mcpt4 |
A |
G |
14: 56,298,125 (GRCm39) |
M142T |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,541,177 (GRCm39) |
F1154S |
probably damaging |
Het |
Mrpl1 |
G |
T |
5: 96,361,650 (GRCm39) |
L12F |
probably benign |
Het |
Myo3b |
G |
A |
2: 70,047,501 (GRCm39) |
V308I |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,529,707 (GRCm39) |
|
probably null |
Het |
Npc1l1 |
T |
A |
11: 6,167,807 (GRCm39) |
M995L |
probably benign |
Het |
Nvl |
A |
G |
1: 180,939,899 (GRCm39) |
I617T |
probably benign |
Het |
Oas1h |
C |
A |
5: 120,999,528 (GRCm39) |
|
probably benign |
Het |
Oasl2 |
T |
A |
5: 115,049,152 (GRCm39) |
Y197* |
probably null |
Het |
Or4k1 |
A |
G |
14: 50,377,907 (GRCm39) |
L63P |
probably damaging |
Het |
Or52ab7 |
T |
C |
7: 102,978,293 (GRCm39) |
V200A |
probably benign |
Het |
Or5an1c |
T |
C |
19: 12,218,089 (GRCm39) |
N312S |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,780,568 (GRCm39) |
E3G |
probably benign |
Het |
Or5p70 |
C |
T |
7: 107,995,037 (GRCm39) |
R237* |
probably null |
Het |
Or8g35 |
A |
T |
9: 39,381,353 (GRCm39) |
I223N |
probably benign |
Het |
Orc6 |
T |
C |
8: 86,029,537 (GRCm39) |
V27A |
probably damaging |
Het |
Parp4 |
A |
T |
14: 56,852,216 (GRCm39) |
R799S |
possibly damaging |
Het |
Pcdhga1 |
C |
A |
18: 37,958,130 (GRCm39) |
S826R |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,607,432 (GRCm39) |
R1258G |
probably damaging |
Het |
Ppfia1 |
T |
C |
7: 144,106,210 (GRCm39) |
S21G |
probably benign |
Het |
Ppp1r18 |
C |
A |
17: 36,179,103 (GRCm39) |
T326K |
probably damaging |
Het |
Psg26 |
A |
G |
7: 18,216,521 (GRCm39) |
L106P |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,054,220 (GRCm39) |
D265E |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,849,619 (GRCm39) |
L554P |
possibly damaging |
Het |
Sart3 |
T |
C |
5: 113,883,663 (GRCm39) |
K783R |
possibly damaging |
Het |
Slc23a2 |
T |
A |
2: 131,933,189 (GRCm39) |
I90F |
probably damaging |
Het |
Slc5a2 |
A |
T |
7: 127,869,212 (GRCm39) |
M331L |
probably damaging |
Het |
Slc5a7 |
C |
G |
17: 54,600,029 (GRCm39) |
G128A |
probably damaging |
Het |
Smcr8 |
A |
T |
11: 60,671,180 (GRCm39) |
Q776L |
probably damaging |
Het |
Smpd4 |
T |
A |
16: 17,458,835 (GRCm39) |
D519E |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,830,356 (GRCm39) |
|
probably null |
Het |
Spata18 |
T |
A |
5: 73,816,636 (GRCm39) |
N125K |
probably benign |
Het |
Spice1 |
T |
A |
16: 44,178,259 (GRCm39) |
M94K |
probably damaging |
Het |
Stard4 |
T |
C |
18: 33,338,587 (GRCm39) |
|
probably null |
Het |
Stx17 |
A |
G |
4: 48,140,442 (GRCm39) |
D49G |
probably benign |
Het |
Tbce |
T |
C |
13: 14,194,380 (GRCm39) |
D93G |
possibly damaging |
Het |
Tbx21 |
T |
A |
11: 96,989,719 (GRCm39) |
D491V |
probably damaging |
Het |
Tmbim4 |
G |
T |
10: 120,044,731 (GRCm39) |
|
probably benign |
Het |
Tmem209 |
C |
T |
6: 30,502,016 (GRCm39) |
R62H |
probably damaging |
Het |
Tmem237 |
A |
T |
1: 59,158,771 (GRCm39) |
|
probably null |
Het |
Tmprss9 |
T |
C |
10: 80,730,883 (GRCm39) |
I803T |
probably benign |
Het |
Trip4 |
C |
T |
9: 65,792,292 (GRCm39) |
A7T |
probably benign |
Het |
Unc13a |
T |
C |
8: 72,115,881 (GRCm39) |
D107G |
probably benign |
Het |
Uso1 |
C |
A |
5: 92,340,599 (GRCm39) |
Q672K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,196,949 (GRCm39) |
N239K |
possibly damaging |
Het |
Zfp661 |
A |
G |
2: 127,419,040 (GRCm39) |
C367R |
probably damaging |
Het |
Znrf3 |
T |
A |
11: 5,231,550 (GRCm39) |
E558D |
probably damaging |
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 |
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 |
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'- CTGCCTCAGATGATTCCTAAATGC -3'
(R):5'- ACTCATAATATCTTCAGCCCCTAG -3'
Sequencing Primer
(F):5'- CCTAAATGCATATGGTTGGTTCAG -3'
(R):5'- CTTCAGCCCCTAGAACTTAAATATTG -3'
|
Posted On |
2019-05-13 |