Incidental Mutation 'R0245:Rnf17'
| ID |
36193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf17
|
| Ensembl Gene |
ENSMUSG00000000365 |
| Gene Name |
ring finger protein 17 |
| Synonyms |
MMIP-2 |
| MMRRC Submission |
038483-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.522)
|
| Stock # |
R0245 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56640107-56762489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56676066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 309
(Y309C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095793]
[ENSMUST00000223627]
|
| AlphaFold |
Q99MV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095793
AA Change: Y309C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: Y309C
| 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 damaging
Transcript: ENSMUST00000223627
AA Change: Y309C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225361
|
| Meta Mutation Damage Score |
0.2910 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| Actmap |
T |
A |
7: 26,900,028 (GRCm39) |
C98S |
possibly damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,333,810 (GRCm39) |
|
probably benign |
Het |
| Adra2a |
G |
C |
19: 54,035,840 (GRCm39) |
V399L |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
| Asic3 |
C |
A |
5: 24,618,836 (GRCm39) |
R43S |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,483,640 (GRCm39) |
Y178N |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,581,415 (GRCm39) |
N1647D |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,682 (GRCm39) |
D803V |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,519,517 (GRCm39) |
D56V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,540,685 (GRCm39) |
Y2563C |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
| E2f7 |
C |
A |
10: 110,610,656 (GRCm39) |
S427* |
probably null |
Het |
| Eps8 |
T |
C |
6: 137,456,126 (GRCm39) |
D785G |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,222,659 (GRCm39) |
C14Y |
possibly damaging |
Het |
| Fah |
A |
C |
7: 84,244,706 (GRCm39) |
H222Q |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,001,078 (GRCm39) |
S334P |
possibly damaging |
Het |
| Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,925,271 (GRCm39) |
V351A |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,492,946 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,976 (GRCm39) |
I252T |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,094 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,317,766 (GRCm39) |
I2081V |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,066,960 (GRCm39) |
C535* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,290 (GRCm39) |
N249I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,992 (GRCm39) |
E314G |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
| Kng2 |
A |
T |
16: 22,830,931 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
A |
T |
1: 72,573,940 (GRCm39) |
D119E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,719 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,400,856 (GRCm39) |
K660R |
probably damaging |
Het |
| Nr2c2ap |
T |
C |
8: 70,584,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
| Or4c29 |
C |
A |
2: 88,740,219 (GRCm39) |
D173Y |
possibly damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,680 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5k14 |
A |
T |
16: 58,693,229 (GRCm39) |
Y95N |
probably benign |
Het |
| Or7g33 |
C |
A |
9: 19,448,408 (GRCm39) |
V273L |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,614,573 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,610,624 (GRCm39) |
S1046G |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,284 (GRCm39) |
D5G |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,424 (GRCm39) |
H486R |
probably benign |
Het |
| Rnf111 |
C |
T |
9: 70,361,113 (GRCm39) |
|
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,253,178 (GRCm39) |
I387N |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
| Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,432 (GRCm39) |
M40V |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,448,206 (GRCm39) |
I416T |
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Spata32 |
C |
T |
11: 103,099,921 (GRCm39) |
A195T |
probably damaging |
Het |
| Srrd |
A |
G |
5: 112,485,394 (GRCm39) |
|
probably benign |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,067 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,390,744 (GRCm39) |
|
probably benign |
Het |
| Tbxas1 |
G |
T |
6: 39,004,702 (GRCm39) |
R316S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,752 (GRCm39) |
I116N |
possibly damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,520,107 (GRCm39) |
T260A |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,900,922 (GRCm39) |
I556V |
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Xpo4 |
G |
T |
14: 57,867,697 (GRCm39) |
H183Q |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,230,947 (GRCm39) |
I81L |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,899 (GRCm39) |
Y389F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATCTCAAAGGCTGCTGGAGC -3'
(R):5'- CCCAGTTGAGGCAGTACAGCAATAG -3'
Sequencing Primer
(F):5'- GAGCTTTAAGTAAGCGGTTCC -3'
(R):5'- TGAGGCAGTACAGCAATAGTCTTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation