Incidental Mutation 'R7527:Rnf17'
| ID |
583095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf17
|
| Ensembl Gene |
ENSMUSG00000000365 |
| Gene Name |
ring finger protein 17 |
| Synonyms |
MMIP-2 |
| MMRRC Submission |
045599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.522)
|
| Stock # |
R7527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56753895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1534
(D1534V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
| AlphaFold |
Q99MV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095793
AA Change: D1534V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: D1534V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
| Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
| Adgrl4 |
C |
A |
3: 151,144,887 (GRCm39) |
T12N |
probably benign |
Het |
| Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
| Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,248,208 (GRCm39) |
V374A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
| Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
| Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
| Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
| Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
| Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
| H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
| Hk1 |
C |
A |
10: 62,140,561 (GRCm39) |
V105F |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
| Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
| Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
T |
A |
9: 57,045,100 (GRCm39) |
Y429* |
probably null |
Het |
| Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
| Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
| Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
| Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
| Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
| Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
| Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
| Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
| Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
| Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
| Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,075,015 (GRCm39) |
E1452G |
possibly damaging |
Het |
| Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
| Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
| Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
| Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
| Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTCAGCGCTGTACAGTGACC -3'
(R):5'- AATAGCTCCAGTTGTACTCCCATC -3'
Sequencing Primer
(F):5'- GCTGTACAGTGACCACGTG -3'
(R):5'- GTGTAAAGTGCTTGCCATGCAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation