Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

56640107-56762489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56719592 bp (GRCm39)

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]

AlphaFold

Q99MV7

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: 96,013,821 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Aak1	A	T	6: 86,959,598 (GRCm39)	T846S	unknown	Het
Adgrl1	A	G	8: 84,664,115 (GRCm39)	D1149G	probably damaging	Het
AI661453	C	T	17: 47,778,017 (GRCm39)		probably benign	Het
Ap4b1	T	C	3: 103,720,170 (GRCm39)	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,371,522 (GRCm39)	R224*	probably null	Het
Ash1l	T	A	3: 88,976,386 (GRCm39)		probably null	Het
Atm	A	T	9: 53,412,092 (GRCm39)	V988D	probably damaging	Het
C3	T	C	17: 57,533,823 (GRCm39)	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 48,164,534 (GRCm39)	S393L	probably damaging	Het
Cep20	T	G	16: 14,118,070 (GRCm39)	D150A	probably benign	Het
Cyp2c68	A	C	19: 39,722,896 (GRCm39)	N217K	probably damaging	Het
Dapp1	A	T	3: 137,667,260 (GRCm39)	S101T	probably benign	Het
Ddx25	T	C	9: 35,462,660 (GRCm39)	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803 (GRCm39)	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,606,644 (GRCm39)	E2511G	possibly damaging	Het
Gm9839	T	A	1: 32,558,943 (GRCm39)		probably benign	Het
Grn	A	G	11: 102,327,084 (GRCm39)		probably benign	Het
Haus5	T	C	7: 30,359,571 (GRCm39)	T196A	possibly damaging	Het
Ik	A	G	18: 36,886,313 (GRCm39)		probably null	Het
Inpp5d	T	G	1: 87,635,854 (GRCm39)	F473C	probably damaging	Het
Kif19a	C	A	11: 114,680,187 (GRCm39)	S841R	probably damaging	Het
Lipn	G	A	19: 34,046,063 (GRCm39)	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,019,097 (GRCm39)	P1074Q	probably damaging	Het
Mfap2	T	C	4: 140,741,535 (GRCm39)	S65P	probably benign	Het
Mtbp	T	C	15: 55,426,439 (GRCm39)	F127S	possibly damaging	Het
Or8k37	A	G	2: 86,469,560 (GRCm39)	F164S	probably damaging	Het
Pappa2	T	C	1: 158,764,503 (GRCm39)	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,871,237 (GRCm39)		probably benign	Het
Plekhm3	A	T	1: 64,961,025 (GRCm39)	C410*	probably null	Het
Ppm1f	T	A	16: 16,735,580 (GRCm39)	H265Q	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Rasal3	T	C	17: 32,617,947 (GRCm39)	T207A	probably benign	Het
Rpl3l	C	A	17: 24,952,962 (GRCm39)	Y307*	probably null	Het
Sema4d	A	G	13: 51,857,124 (GRCm39)	S703P	probably benign	Het
Slc12a7	T	C	13: 73,954,280 (GRCm39)	M857T	probably benign	Het
Slc34a3	T	C	2: 25,122,275 (GRCm39)	D110G	probably benign	Het
Spata32	A	T	11: 103,099,706 (GRCm39)	N266K	probably benign	Het
Spata9	A	G	13: 76,141,193 (GRCm39)	I147V	probably benign	Het
Supt16	T	C	14: 52,417,000 (GRCm39)	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,715,064 (GRCm39)	I95T	probably benign	Het
Usp17ld	T	A	7: 102,899,967 (GRCm39)	M322L	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	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
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
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

Posted On

2015-04-16