Incidental Mutation 'R5518:Rnf17'
| ID |
431427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf17
|
| Ensembl Gene |
ENSMUSG00000000365 |
| Gene Name |
ring finger protein 17 |
| Synonyms |
MMIP-2 |
| MMRRC Submission |
043077-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.522)
|
| Stock # |
R5518 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56719590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 947
(N947D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
| AlphaFold |
Q99MV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095793
AA Change: N947D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: N947D
| 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 |
noncoding transcript
Transcript: ENSMUST00000223646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225621
|
| Meta Mutation Damage Score |
0.1007 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 94.2%
- 20x: 86.3%
|
| Validation Efficiency |
100% (75/75) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
T |
7: 45,769,873 (GRCm39) |
E881K |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Abl1 |
T |
A |
2: 31,680,754 (GRCm39) |
C349S |
probably damaging |
Het |
| Acot11 |
C |
A |
4: 106,607,207 (GRCm39) |
V459L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,753,348 (GRCm39) |
V311D |
probably damaging |
Het |
| Ankrd11 |
C |
G |
8: 123,617,733 (GRCm39) |
E2040Q |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,525,869 (GRCm39) |
I359V |
probably benign |
Het |
| Armc3 |
T |
G |
2: 19,302,739 (GRCm39) |
L684V |
probably benign |
Het |
| Asb10 |
G |
A |
5: 24,744,643 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,042,463 (GRCm39) |
S8P |
possibly damaging |
Het |
| Blk |
G |
T |
14: 63,615,956 (GRCm39) |
S324R |
possibly damaging |
Het |
| C4b |
G |
C |
17: 34,953,416 (GRCm39) |
N1022K |
probably benign |
Het |
| Card6 |
G |
T |
15: 5,134,696 (GRCm39) |
T169K |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,236,844 (GRCm39) |
T268A |
possibly damaging |
Het |
| Cbx3 |
C |
T |
6: 51,458,726 (GRCm39) |
P64S |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,544,567 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,212,534 (GRCm39) |
E899K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,949,387 (GRCm39) |
S749R |
possibly damaging |
Het |
| Cpne3 |
T |
G |
4: 19,553,779 (GRCm39) |
N84T |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,617,025 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,242,818 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,596 (GRCm39) |
C221F |
probably damaging |
Het |
| Exoc3l |
T |
C |
8: 106,019,795 (GRCm39) |
N353D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| G3bp2 |
T |
A |
5: 92,216,347 (GRCm39) |
H63L |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 130,929,428 (GRCm39) |
Y460H |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,865,004 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,154 (GRCm39) |
L23P |
probably damaging |
Het |
| Ins1 |
T |
C |
19: 52,253,177 (GRCm39) |
L39P |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,306,566 (GRCm39) |
V210G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,683,488 (GRCm39) |
T210S |
probably benign |
Het |
| Krtap24-1 |
A |
T |
16: 88,408,596 (GRCm39) |
F177I |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,079 (GRCm39) |
I1963K |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,431,875 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
A |
T |
10: 80,504,475 (GRCm39) |
C229S |
possibly damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,456 (GRCm39) |
Q362K |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,232,105 (GRCm39) |
Y225H |
probably benign |
Het |
| Or4d11 |
T |
C |
19: 12,013,429 (GRCm39) |
R226G |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,415 (GRCm39) |
D693G |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,368,294 (GRCm39) |
D100N |
possibly damaging |
Het |
| Pld3 |
T |
C |
7: 27,231,796 (GRCm39) |
D465G |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,496,172 (GRCm39) |
Y788H |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 162,120,143 (GRCm39) |
D108V |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,354 (GRCm39) |
M475K |
probably benign |
Het |
| Rbak |
A |
G |
5: 143,159,064 (GRCm39) |
L663P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,702,795 (GRCm39) |
S2898G |
probably benign |
Het |
| Serpina1e |
A |
C |
12: 103,917,087 (GRCm39) |
L194R |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,944,724 (GRCm39) |
S158P |
probably damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,292,342 (GRCm39) |
V269E |
possibly damaging |
Het |
| Snx14 |
G |
T |
9: 88,265,855 (GRCm39) |
P760Q |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,948,508 (GRCm39) |
E759G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,473,588 (GRCm39) |
T4906M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,991,944 (GRCm39) |
F1970I |
possibly damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,768 (GRCm39) |
H362Q |
probably benign |
Het |
| Tmem121 |
T |
C |
12: 113,152,547 (GRCm39) |
V255A |
possibly damaging |
Het |
| Tmem201 |
T |
C |
4: 149,802,534 (GRCm39) |
T614A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,935,916 (GRCm39) |
D340G |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,373,794 (GRCm39) |
T1046S |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,238 (GRCm39) |
D8G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,937 (GRCm39) |
N850S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,231,417 (GRCm39) |
H451R |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,818 (GRCm39) |
C595R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,583 (GRCm39) |
S182P |
probably benign |
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 |
|
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'- GCTATTGATATCAAAGTTAGGGATCAG -3'
(R):5'- GCTTAGGACACATCTGAAAAGCC -3'
Sequencing Primer
(F):5'- AATCATAGGTGAAATGTATTCGTCTC -3'
(R):5'- GAAAAGCCTTCATCTCTGTAAGGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation