Mutagenetix > Incidental Mutation

Incidental Mutation 'R5747:Rnf17'

462711

Institutional Source

Beutler Lab

Gene Symbol

Rnf17

Ensembl Gene

ENSMUSG00000000365

Gene Name

ring finger protein 17

Synonyms

MMIP-2

MMRRC Submission

043354-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R5747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56640107-56762489 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 56703276 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 benign
Transcript: ENSMUST00000223627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225621

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	T	1: 25,865,643 (GRCm39)	Y67N	probably damaging	Het
Akap8l	T	C	17: 32,564,352 (GRCm39)	T12A	probably damaging	Het
Anapc1	A	G	2: 128,466,836 (GRCm39)	V1620A	probably benign	Het
Ank2	A	G	3: 126,735,400 (GRCm39)		probably benign	Het
Ankrd34c	C	T	9: 89,611,814 (GRCm39)	V176M	possibly damaging	Het
Arhgap39	C	T	15: 76,625,735 (GRCm39)	D190N	possibly damaging	Het
Cbl	A	G	9: 44,112,416 (GRCm39)	L93P	probably damaging	Het
Crebl2	C	T	6: 134,828,103 (GRCm39)	L92F	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dzip1l	T	A	9: 99,521,862 (GRCm39)		probably null	Het
Echs1	T	C	7: 139,691,725 (GRCm39)		probably benign	Het
Eif1ad16	C	T	12: 87,985,366 (GRCm39)	C59Y	possibly damaging	Het
Epha4	A	G	1: 77,483,520 (GRCm39)	I163T	probably damaging	Het
Fdft1	A	G	14: 63,384,288 (GRCm39)	S388P	probably damaging	Het
Gbx2	A	G	1: 89,856,437 (GRCm39)	S318P	probably damaging	Het
Gkn1	T	A	6: 87,323,319 (GRCm39)	T165S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5093	T	G	17: 46,750,916 (GRCm39)	E37A	possibly damaging	Het
Gm527	A	T	12: 64,967,620 (GRCm39)	N14I	probably damaging	Het
Gnaz	C	T	10: 74,827,235 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,399,870 (GRCm39)	T287A	probably benign	Het
Gtf2h4	T	C	17: 35,981,273 (GRCm39)	Y220C	possibly damaging	Het
Igkv8-28	T	C	6: 70,121,141 (GRCm39)	E2G	probably benign	Het
Itgbl1	T	A	14: 124,209,576 (GRCm39)	Y318*	probably null	Het
Kcnh5	T	C	12: 74,945,194 (GRCm39)	E685G	probably benign	Het
Kctd18	A	T	1: 58,001,183 (GRCm39)		probably benign	Het
Ldhal6b	A	C	17: 5,468,094 (GRCm39)	V280G	probably damaging	Het
Ldhd	T	C	8: 112,355,703 (GRCm39)	T182A	probably damaging	Het
Lman2l	T	C	1: 36,464,038 (GRCm39)	D272G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,904 (GRCm39)	T76A	probably benign	Het
Map3k3	A	G	11: 106,041,236 (GRCm39)	T402A	probably benign	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Mob4	A	G	1: 55,187,737 (GRCm39)	M68V	probably damaging	Het
Or1j15	A	T	2: 36,458,979 (GRCm39)	Y123F	probably damaging	Het
Rassf8	A	G	6: 145,761,541 (GRCm39)	E289G	probably benign	Het
Rp9	A	G	9: 22,359,960 (GRCm39)		probably benign	Het
Rrm2b	T	C	15: 37,927,634 (GRCm39)	Q92R	probably benign	Het
Sema6d	C	T	2: 124,506,867 (GRCm39)	P879S	probably damaging	Het
Slc27a2	T	A	2: 126,406,658 (GRCm39)	M114K	probably benign	Het
Slc4a5	T	A	6: 83,248,011 (GRCm39)	Y521N	probably damaging	Het
Slc6a4	A	T	11: 76,901,337 (GRCm39)	N24I	probably damaging	Het
Spata13	T	A	14: 60,984,952 (GRCm39)	D815E	probably benign	Het
Spocd1	A	G	4: 129,848,738 (GRCm39)	D656G	probably damaging	Het
Susd1	T	A	4: 59,424,108 (GRCm39)	N39I	probably damaging	Het
Vps13d	G	A	4: 144,894,853 (GRCm39)	T417I	probably benign	Het
Wdr31	C	T	4: 62,381,637 (GRCm39)	V65I	probably damaging	Het
Zfp783	T	C	6: 47,925,829 (GRCm39)		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
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
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'- TTCCATAGACTGAGGGCTGG -3'
(R):5'- AGGGCTACACAGAGAAACCCTG -3'

Sequencing Primer
(F):5'- CCATAGACTGAGGGCTGGGAAAAG -3'
(R):5'- GCTACACAGAGAAACCCTGTCTCG -3'

Posted On

2017-03-01