Incidental Mutation 'IGL02183:Rnf17'
ID |
284332 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf17
|
Ensembl Gene |
ENSMUSG00000000365 |
Gene Name |
ring finger protein 17 |
Synonyms |
MMIP-2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
IGL02183
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56745325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1360
(D1360E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
|
AlphaFold |
Q99MV7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095793
AA Change: D1360E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093469 Gene: ENSMUSG00000000365 AA Change: D1360E
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 |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
T |
A |
X: 162,960,465 (GRCm39) |
|
probably benign |
Het |
Acsm4 |
A |
T |
7: 119,293,075 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,084,925 (GRCm39) |
M374T |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,344,575 (GRCm39) |
E551G |
possibly damaging |
Het |
Bag4 |
A |
T |
8: 26,258,058 (GRCm39) |
L423Q |
probably damaging |
Het |
Celf1 |
C |
T |
2: 90,831,831 (GRCm39) |
P96S |
probably damaging |
Het |
Cracdl |
G |
A |
1: 37,664,459 (GRCm39) |
P480S |
possibly damaging |
Het |
Cry2 |
G |
A |
2: 92,243,384 (GRCm39) |
R486W |
probably damaging |
Het |
Csn1s1 |
G |
A |
5: 87,825,477 (GRCm39) |
S228N |
possibly damaging |
Het |
Ctnnd2 |
A |
G |
15: 31,020,886 (GRCm39) |
Y1124C |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,118,384 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,847,228 (GRCm39) |
C1695S |
possibly damaging |
Het |
Elmo3 |
T |
C |
8: 106,034,955 (GRCm39) |
L415P |
probably benign |
Het |
Entpd5 |
A |
G |
12: 84,427,154 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
T |
C |
17: 79,149,660 (GRCm39) |
|
probably null |
Het |
Gprin3 |
C |
A |
6: 59,330,147 (GRCm39) |
R720I |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,502,460 (GRCm39) |
T358P |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,560,647 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,221 (GRCm39) |
T1891A |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,799,635 (GRCm39) |
V153A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,302,034 (GRCm39) |
V503A |
possibly damaging |
Het |
Igf2r |
G |
A |
17: 12,917,403 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
A |
G |
12: 113,271,449 (GRCm39) |
S35P |
unknown |
Het |
Jmy |
T |
C |
13: 93,635,750 (GRCm39) |
D22G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,552,669 (GRCm39) |
I1215T |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,440,791 (GRCm39) |
I134V |
unknown |
Het |
Magi3 |
T |
A |
3: 103,992,663 (GRCm39) |
M270L |
probably benign |
Het |
Maneal |
G |
A |
4: 124,754,209 (GRCm39) |
T198I |
probably benign |
Het |
Map7d3 |
A |
G |
X: 55,867,591 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
A |
14: 55,212,188 (GRCm39) |
T1519S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,074,518 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
C |
13: 100,358,150 (GRCm39) |
S1029G |
probably benign |
Het |
Or14j1 |
G |
T |
17: 38,146,304 (GRCm39) |
C138F |
probably damaging |
Het |
Or4c11c |
A |
T |
2: 88,662,372 (GRCm39) |
I304F |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,763 (GRCm39) |
V71E |
probably damaging |
Het |
Or5d14 |
T |
C |
2: 87,880,333 (GRCm39) |
T212A |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,184 (GRCm39) |
Q133L |
probably benign |
Het |
Pald1 |
A |
T |
10: 61,182,920 (GRCm39) |
|
probably benign |
Het |
Pan2 |
T |
A |
10: 128,144,944 (GRCm39) |
H230Q |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,720 (GRCm39) |
I817V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,153,705 (GRCm39) |
S2547P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,442,167 (GRCm39) |
|
probably null |
Het |
Prdm6 |
T |
C |
18: 53,597,749 (GRCm39) |
|
probably benign |
Het |
Prr5l |
A |
T |
2: 101,602,465 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,003,665 (GRCm39) |
L1020* |
probably null |
Het |
Rhbdf1 |
T |
C |
11: 32,160,543 (GRCm39) |
H669R |
probably damaging |
Het |
Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
Sag |
T |
C |
1: 87,756,197 (GRCm39) |
|
probably null |
Het |
Scn2a |
C |
T |
2: 65,501,947 (GRCm39) |
T90I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,955 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,640 (GRCm39) |
M212T |
probably damaging |
Het |
Slc39a14 |
C |
T |
14: 70,544,134 (GRCm39) |
G484E |
possibly damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,669 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
A |
T |
3: 72,957,312 (GRCm39) |
Y487N |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,836,671 (GRCm39) |
M279T |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,420,373 (GRCm39) |
Y125H |
probably damaging |
Het |
Tmem71 |
A |
G |
15: 66,426,874 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,188,201 (GRCm39) |
F142L |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,963 (GRCm39) |
L209P |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,543,508 (GRCm39) |
W136R |
probably damaging |
Het |
Wif1 |
C |
T |
10: 120,911,181 (GRCm39) |
R107C |
probably damaging |
Het |
Ythdf2 |
G |
T |
4: 131,932,885 (GRCm39) |
L92M |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,720,512 (GRCm39) |
I34N |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,291 (GRCm39) |
L338S |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |