Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02422:Rnf17'

292738

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

Is this an essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

56402581-56525032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56482135 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 947 (N947K)

Ref Sequence

ENSEMBL: ENSMUSP00000093469 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095793
AA Change: N947K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365
AA Change: N947K

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: ENSMUST00000223646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225621

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,047,047		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Aak1	A	T	6: 86,982,616	T846S	unknown	Het
Adgrl1	A	G	8: 83,937,486	D1149G	probably damaging	Het
AI661453	C	T	17: 47,467,092		probably benign	Het
Ap4b1	T	C	3: 103,812,854	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,287,065	R224*	probably null	Het
Ash1l	T	A	3: 89,069,079		probably null	Het
Atm	A	T	9: 53,500,792	V988D	probably damaging	Het
C3	T	C	17: 57,226,823	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 47,711,499	S393L	probably damaging	Het
Cyp2c68	A	C	19: 39,734,452	N217K	probably damaging	Het
Dapp1	A	T	3: 137,961,499	S101T	probably benign	Het
Ddx25	T	C	9: 35,551,364	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,640,210	E2511G	possibly damaging	Het
Fopnl	T	G	16: 14,300,206	D150A	probably benign	Het
Gm9839	T	A	1: 32,519,862		probably benign	Het
Grn	A	G	11: 102,436,258		probably benign	Het
Haus5	T	C	7: 30,660,146	T196A	possibly damaging	Het
Ik	A	G	18: 36,753,260		probably null	Het
Inpp5d	T	G	1: 87,708,132	F473C	probably damaging	Het
Kif19a	C	A	11: 114,789,361	S841R	probably damaging	Het
Lipn	G	A	19: 34,068,663	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,319,672	P1074Q	probably damaging	Het
Mfap2	T	C	4: 141,014,224	S65P	probably benign	Het
Mtbp	T	C	15: 55,563,043	F127S	possibly damaging	Het
Olfr1084	A	G	2: 86,639,216	F164S	probably damaging	Het
Pappa2	T	C	1: 158,936,933	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,563,809		probably benign	Het
Plekhm3	A	T	1: 64,921,866	C410*	probably null	Het
Ppm1f	T	A	16: 16,917,716	H265Q	probably damaging	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Rasal3	T	C	17: 32,398,973	T207A	probably benign	Het
Rpl3l	C	A	17: 24,733,988	Y307*	probably null	Het
Sema4d	A	G	13: 51,703,088	S703P	probably benign	Het
Slc12a7	T	C	13: 73,806,161	M857T	probably benign	Het
Slc34a3	T	C	2: 25,232,263	D110G	probably benign	Het
Spata32	A	T	11: 103,208,880	N266K	probably benign	Het
Spata9	A	G	13: 75,993,074	I147V	probably benign	Het
Supt16	T	C	14: 52,179,543	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,873,144	I95T	probably benign	Het
Usp17ld	T	A	7: 103,250,760	M322L	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het

Other mutations in Rnf17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Rnf17	APN	14	56421082	missense	probably damaging	0.99
IGL00717:Rnf17	APN	14	56465750	missense	probably benign	0.00
IGL00978:Rnf17	APN	14	56512271	missense	probably damaging	1.00
IGL01295:Rnf17	APN	14	56463064	nonsense	probably null
IGL01779:Rnf17	APN	14	56462063	missense	probably benign	0.06
IGL02132:Rnf17	APN	14	56421166	missense	probably benign	0.27
IGL02183:Rnf17	APN	14	56507868	missense	probably null	0.99
IGL02387:Rnf17	APN	14	56500587	missense	probably damaging	1.00
IGL03081:Rnf17	APN	14	56434371	missense	probably benign	0.03
IGL03269:Rnf17	APN	14	56427946	missense	possibly damaging	0.74
R0046:Rnf17	UTSW	14	56471373	missense	probably damaging	1.00
R0046:Rnf17	UTSW	14	56471373	missense	probably damaging	1.00
R0089:Rnf17	UTSW	14	56514106	missense	probably damaging	1.00
R0189:Rnf17	UTSW	14	56482193	missense	probably null	1.00
R0243:Rnf17	UTSW	14	56482084	missense	possibly damaging	0.80
R0245:Rnf17	UTSW	14	56438609	missense	probably damaging	0.97
R0486:Rnf17	UTSW	14	56514175	missense	probably benign	0.43
R0554:Rnf17	UTSW	14	56522550	missense	probably damaging	1.00
R0840:Rnf17	UTSW	14	56475447	missense	probably damaging	1.00
R1169:Rnf17	UTSW	14	56514165	missense	possibly damaging	0.89
R1170:Rnf17	UTSW	14	56425631	missense	probably benign	0.10
R1200:Rnf17	UTSW	14	56467706	missense	probably benign	0.44
R1464:Rnf17	UTSW	14	56461911	missense	probably damaging	1.00
R1464:Rnf17	UTSW	14	56461911	missense	probably damaging	1.00
R1472:Rnf17	UTSW	14	56427979	missense	probably damaging	1.00
R1512:Rnf17	UTSW	14	56467786	missense	probably benign	0.01
R1605:Rnf17	UTSW	14	56493365	missense	probably damaging	1.00
R1778:Rnf17	UTSW	14	56522399	missense	probably damaging	0.99
R1791:Rnf17	UTSW	14	56504007	nonsense	probably null
R2015:Rnf17	UTSW	14	56486969	missense	probably benign	0.00
R2023:Rnf17	UTSW	14	56431579	missense	possibly damaging	0.59
R2086:Rnf17	UTSW	14	56483380	missense	probably damaging	0.98
R2130:Rnf17	UTSW	14	56493354	missense	probably damaging	1.00
R2309:Rnf17	UTSW	14	56505982	missense	possibly damaging	0.95
R3003:Rnf17	UTSW	14	56500547	missense	probably damaging	1.00
R3611:Rnf17	UTSW	14	56467740	missense	probably benign	0.43
R3847:Rnf17	UTSW	14	56512296	missense	probably damaging	1.00
R3848:Rnf17	UTSW	14	56512296	missense	probably damaging	1.00
R3849:Rnf17	UTSW	14	56512296	missense	probably damaging	1.00
R3850:Rnf17	UTSW	14	56512296	missense	probably damaging	1.00
R3872:Rnf17	UTSW	14	56475413	missense	possibly damaging	0.89
R3874:Rnf17	UTSW	14	56475413	missense	possibly damaging	0.89
R4021:Rnf17	UTSW	14	56460001	missense	probably damaging	0.98
R4022:Rnf17	UTSW	14	56460001	missense	probably damaging	0.98
R4790:Rnf17	UTSW	14	56434355	missense	probably damaging	1.00
R4951:Rnf17	UTSW	14	56522391	missense	probably benign	0.02
R5068:Rnf17	UTSW	14	56505928	missense	probably damaging	0.99
R5069:Rnf17	UTSW	14	56505928	missense	probably damaging	0.99
R5070:Rnf17	UTSW	14	56505928	missense	probably damaging	0.99
R5518:Rnf17	UTSW	14	56482133	missense	probably damaging	1.00
R5628:Rnf17	UTSW	14	56486952	splice site	probably null
R5712:Rnf17	UTSW	14	56471399	missense	probably benign	0.19
R5747:Rnf17	UTSW	14	56465819	critical splice donor site	probably null
R5869:Rnf17	UTSW	14	56505988	missense	possibly damaging	0.94
R6336:Rnf17	UTSW	14	56421169	unclassified	probably null
R6626:Rnf17	UTSW	14	56427924	missense	possibly damaging	0.92
R6639:Rnf17	UTSW	14	56438743	missense	probably benign	0.01
R6675:Rnf17	UTSW	14	56459975	missense	probably damaging	1.00
R6731:Rnf17	UTSW	14	56524350	missense	possibly damaging	0.93

Posted On

2015-04-16