Incidental Mutation 'R7754:Rnf17'
| ID |
597465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf17
|
| Ensembl Gene |
ENSMUSG00000000365 |
| Gene Name |
ring finger protein 17 |
| Synonyms |
MMIP-2 |
| MMRRC Submission |
045810-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.494)
|
| Stock # |
R7754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 56699529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
[ENSMUST00000223627]
|
| AlphaFold |
Q99MV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095793
|
| SMART Domains |
Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
| 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 null
Transcript: ENSMUST00000223627
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
T |
4: 88,786,496 (GRCm39) |
W41R |
unknown |
Het |
| Aatf |
G |
A |
11: 84,402,335 (GRCm39) |
S117L |
possibly damaging |
Het |
| Abca12 |
C |
A |
1: 71,342,046 (GRCm39) |
V972L |
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,117,162 (GRCm39) |
R495S |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,403,086 (GRCm39) |
H621Q |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,736 (GRCm39) |
L2537P |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,208,509 (GRCm39) |
A597T |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,797,809 (GRCm39) |
I1448N |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,288,863 (GRCm39) |
E1841K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,463,371 (GRCm39) |
P1457Q |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,163,145 (GRCm39) |
K331E |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,310 (GRCm39) |
Q2534K |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,135,188 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
T |
2: 104,087,504 (GRCm39) |
Y491N |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,002,703 (GRCm39) |
I3898V |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,316,277 (GRCm39) |
T346A |
probably benign |
Het |
| Efcab9 |
T |
C |
11: 32,472,941 (GRCm39) |
T169A |
possibly damaging |
Het |
| Fam163a |
A |
T |
1: 155,955,729 (GRCm39) |
I21N |
probably damaging |
Het |
| Fam171a2 |
C |
T |
11: 102,329,389 (GRCm39) |
D457N |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,321,200 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
A |
T |
6: 25,689,049 (GRCm39) |
L16H |
probably damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,330,175 (GRCm39) |
D265G |
probably benign |
Het |
| Idh1 |
G |
T |
1: 65,198,649 (GRCm39) |
A407D |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,521,415 (GRCm39) |
M44T |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,561 (GRCm39) |
M109V |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,879,089 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 95,960,761 (GRCm39) |
D572G |
unknown |
Het |
| Lcn11 |
G |
A |
2: 25,667,830 (GRCm39) |
V73I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,352,704 (GRCm39) |
T1951A |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,860,012 (GRCm39) |
|
probably null |
Het |
| Malrd1 |
G |
A |
2: 15,802,610 (GRCm39) |
|
probably null |
Het |
| Morc2b |
C |
A |
17: 33,356,218 (GRCm39) |
G518V |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
| Neto2 |
C |
A |
8: 86,396,329 (GRCm39) |
L140F |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,488,467 (GRCm39) |
V623I |
probably damaging |
Het |
| Optc |
A |
G |
1: 133,834,730 (GRCm39) |
S15P |
possibly damaging |
Het |
| Or1e25 |
C |
T |
11: 73,494,332 (GRCm39) |
Q309* |
probably null |
Het |
| Or1l4b |
A |
G |
2: 37,036,858 (GRCm39) |
I211M |
possibly damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,945 (GRCm39) |
W88L |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,427 (GRCm39) |
M101K |
possibly damaging |
Het |
| Or9k2 |
T |
G |
10: 129,998,698 (GRCm39) |
T166P |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,705,407 (GRCm39) |
V640A |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,023 (GRCm39) |
S5P |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,404,975 (GRCm39) |
E400V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,804 (GRCm39) |
I3856V |
possibly damaging |
Het |
| Pld2 |
G |
A |
11: 70,443,695 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
G |
T |
6: 32,129,807 (GRCm39) |
H1839N |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,140,904 (GRCm39) |
V89A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,655,627 (GRCm39) |
D420G |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,544,848 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
T |
3: 93,303,228 (GRCm39) |
D187V |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,203 (GRCm39) |
K248E |
probably damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,155,871 (GRCm39) |
H101L |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,174,974 (GRCm39) |
N305S |
probably benign |
Het |
| Serpina3f |
G |
T |
12: 104,183,565 (GRCm39) |
K142N |
possibly damaging |
Het |
| Ssh1 |
C |
A |
5: 114,104,295 (GRCm39) |
R116L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,693 (GRCm39) |
K405E |
possibly damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,634 (GRCm39) |
A70T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,618,540 (GRCm39) |
I16248N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,655,849 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,195,015 (GRCm39) |
M1L |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,675,191 (GRCm39) |
H366R |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,251,496 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
C |
8: 79,916,958 (GRCm39) |
V511A |
|
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 |
|
|
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 |
|
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'- TCTCTCCCATTATATAGGTGCAAG -3'
(R):5'- ACAGAGCTCTTTTCCAAGTTCC -3'
Sequencing Primer
(F):5'- AGGTGCAAGAATATTTGTCAACAG -3'
(R):5'- TCCTCTTCTAGCAACACTGATAAAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation