Mutagenetix > Incidental Mutation

Incidental Mutation 'R6675:Rnf17'

527263

Institutional Source

Beutler Lab

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) question?

Stock #

R6675 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56640107-56762489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56697432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 442 (E442G)

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: E442G

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

SMART Domains

Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: E442G

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: E442G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225621

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,006,302 (GRCm39)	T1268A	probably benign	Het
Adamts20	A	G	15: 94,229,197 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,853,938 (GRCm39)	D151Y	probably null	Het
Arhgef40	C	A	14: 52,229,098 (GRCm39)	L592I	probably damaging	Het
Ascc3	G	T	10: 50,626,659 (GRCm39)	E1720*	probably null	Het
Atp2c1	C	T	9: 105,330,732 (GRCm39)		probably null	Het
Avpi1	G	A	19: 42,112,183 (GRCm39)	P125L	probably benign	Het
Cers3	A	T	7: 66,435,844 (GRCm39)	T232S	possibly damaging	Het
Cfap53	T	C	18: 74,440,447 (GRCm39)		probably null	Het
Col4a3	T	C	1: 82,646,646 (GRCm39)	S386P	unknown	Het
Dhtkd1	A	T	2: 5,908,889 (GRCm39)	M735K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Gad2	T	C	2: 22,563,997 (GRCm39)	V400A	possibly damaging	Het
Gm10801	TC	TCGCC	2: 98,494,151 (GRCm39)		probably benign	Het
Hmgxb3	T	G	18: 61,270,648 (GRCm39)	D892A	possibly damaging	Het
Hsd3b2	G	A	3: 98,620,788 (GRCm39)	T89I	probably benign	Het
Iars1	C	A	13: 49,873,054 (GRCm39)	A713D	probably damaging	Het
Itih1	G	A	14: 30,651,798 (GRCm39)	T848I	possibly damaging	Het
Kcne2	A	G	16: 92,093,512 (GRCm39)	D13G	probably benign	Het
Klra17	T	A	6: 129,849,286 (GRCm39)	N96I	probably damaging	Het
Lrig2	T	C	3: 104,365,251 (GRCm39)	N634D	probably benign	Het
Mrc2	T	A	11: 105,233,906 (GRCm39)		probably null	Het
Mroh3	A	T	1: 136,118,550 (GRCm39)	S558T	possibly damaging	Het
Ncapg2	G	T	12: 116,398,281 (GRCm39)	K627N	possibly damaging	Het
Ncstn	A	T	1: 171,899,095 (GRCm39)	D345E	probably damaging	Het
Nkx1-1	G	T	5: 33,591,223 (GRCm39)	A33E	unknown	Het
Or2n1	T	A	17: 38,486,905 (GRCm39)	M310K	probably benign	Het
Or51f2	A	G	7: 102,526,480 (GRCm39)	E51G	possibly damaging	Het
Osbpl9	G	T	4: 108,991,025 (GRCm39)		probably null	Het
P2rx6	T	C	16: 17,380,032 (GRCm39)	V52A	probably benign	Het
Pcdhgb5	C	T	18: 37,864,255 (GRCm39)	L17F	probably damaging	Het
Pdk2	T	C	11: 94,919,568 (GRCm39)	I273V	probably benign	Het
Pdpr	C	T	8: 111,828,532 (GRCm39)	Q12*	probably null	Het
Plxdc2	A	G	2: 16,716,932 (GRCm39)	T339A	probably benign	Het
Pramel27	G	A	4: 143,579,828 (GRCm39)	C471Y	probably damaging	Het
Retsat	T	C	6: 72,578,672 (GRCm39)	V128A	probably benign	Het
Sec31b	T	C	19: 44,512,214 (GRCm39)	N560S	probably benign	Het
Slc22a16	C	T	10: 40,449,836 (GRCm39)	Q91*	probably null	Het
Slc24a5	G	T	2: 124,922,615 (GRCm39)	A126S	possibly damaging	Het
Slc26a4	A	T	12: 31,590,512 (GRCm39)	D380E	possibly damaging	Het
Stc2	T	A	11: 31,310,307 (GRCm39)	D243V	probably benign	Het
Tshz2	G	T	2: 169,727,965 (GRCm39)	A385S	probably damaging	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Vmn1r77	A	G	7: 11,775,382 (GRCm39)	T53A	probably damaging	Het
Zeb2	A	T	2: 44,887,457 (GRCm39)	Y518*	probably null	Het
Zfp760	T	A	17: 21,941,991 (GRCm39)	S389T	possibly 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
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
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'- CTTGTTGCTAAAGAGTTCATAGAGG -3'
(R):5'- GCAAGTTTATACAGGTTAGCCAATG -3'

Sequencing Primer
(F):5'- CATTTGCCTAAGGTGCAGGAC -3'
(R):5'- GCTCCTATTGCAAACTTGC -3'

Posted On

2018-07-23