Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Rnf17'

77135

Institutional Source

Beutler Lab

Gene Symbol

Rnf17

Ensembl Gene

ENSMUSG00000000365

Gene Name

ring finger protein 17

Synonyms

MMIP-2

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56640107-56762489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56712904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 790 (N790K)

Ref Sequence

ENSEMBL: ENSMUSP00000093469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095793]

AlphaFold

Q99MV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000095793
AA Change: N790K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: N790K

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: ENSMUST00000225621

Meta Mutation Damage Score

0.3068

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	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
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'- CTGGGAGATTCCCCACATTCTTGAC -3'
(R):5'- ATCAGGCACTGCTTACAGACAGC -3'

Sequencing Primer
(F):5'- ATGGGACTAACCAGTGCTCTG -3'
(R):5'- GCACTGCTTACAGACAGCAATAATC -3'

Posted On

2013-10-16