Mutagenetix > Incidental Mutations

Incidental Mutation 'R7326:Rnf38'

568875

Institutional Source

Beutler Lab

Gene Symbol

Rnf38

Ensembl Gene

ENSMUSG00000035696

Gene Name

ring finger protein 38

Synonyms

2610202O07Rik, Oip1, 1700065B19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44126210-44233789 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 44158989 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045793] [ENSMUST00000098098] [ENSMUST00000102934] [ENSMUST00000107836] [ENSMUST00000128426] [ENSMUST00000136730] [ENSMUST00000143337] [ENSMUST00000145760]

Predicted Effect

probably benign
Transcript: ENSMUST00000045793

SMART Domains

Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	244	258	N/A	INTRINSIC
low complexity region	287	310	N/A	INTRINSIC
RING	380	420	9.09e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098098

SMART Domains

Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	24	32	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	319	342	N/A	INTRINSIC
RING	412	452	9.09e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102934

SMART Domains

Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	244	258	N/A	INTRINSIC
low complexity region	287	310	N/A	INTRINSIC
RING	380	420	9.09e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107836

SMART Domains

Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	244	258	N/A	INTRINSIC
low complexity region	287	310	N/A	INTRINSIC
RING	380	420	9.09e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128426

SMART Domains

Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136730

SMART Domains

Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	244	258	N/A	INTRINSIC
low complexity region	287	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143337

SMART Domains

Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145760

SMART Domains

Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696

Domain	Start	End	E-Value	Type
low complexity region	32	51	N/A	INTRINSIC
low complexity region	192	202	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,978,545		probably null	Het
Abcb4	T	C	5: 8,934,226	V652A	probably benign	Het
Acvrl1	G	T	15: 101,141,072	V417L	probably damaging	Het
Add1	A	G	5: 34,619,371	R479G	probably benign	Het
Adgb	A	T	10: 10,400,574	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,846,870	S666T	probably benign	Het
Akap9	T	A	5: 4,045,930	D2268E	possibly damaging	Het
Amigo3	C	A	9: 108,054,066	H229Q	probably benign	Het
Ano6	G	C	15: 95,864,244	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,175,019	D180N	probably damaging	Het
Apc2	A	T	10: 80,311,740	D876V	probably damaging	Het
Apcdd1	T	A	18: 62,952,188	Y485*	probably null	Het
Aqp1	G	T	6: 55,336,851	D121Y	probably benign	Het
Bicd2	C	A	13: 49,369,609	R141S	probably benign	Het
Brpf3	C	A	17: 28,806,293	H113Q	probably benign	Het
Cacng2	A	T	15: 78,013,320	Y96*	probably null	Het
Catsperg1	G	T	7: 29,210,759	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,394,995	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,332,605	N516K	probably benign	Het
Ciita	G	A	16: 10,512,288	R812H	probably damaging	Het
Cldn3	T	A	5: 134,986,983	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,077,299	I512V	probably benign	Het
Col5a2	A	T	1: 45,442,867	D32E	unknown	Het
Coro7	A	G	16: 4,632,048	V616A	probably damaging	Het
Cyp4f18	T	C	8: 71,988,654	D494G	probably benign	Het
Ddx39	T	A	8: 83,722,471	V296E	probably benign	Het
Dgkg	A	T	16: 22,548,690	H593Q	probably damaging	Het
Dhx16	T	C	17: 35,886,160	L645P	probably damaging	Het
Dnah14	A	G	1: 181,598,403	M171V	probably benign	Het
Dnhd1	G	A	7: 105,720,930	V4521I	probably damaging	Het
Dok7	A	T	5: 35,064,522	M60L	probably benign	Het
Donson	A	T	16: 91,688,711	M1K	probably null	Het
Dsp	C	T	13: 38,192,883	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,692,043	T712A	probably damaging	Het
Eef2	A	G	10: 81,181,282	T708A	probably benign	Het
Epn3	G	A	11: 94,493,780	T289I	probably benign	Het
Fam171a1	C	T	2: 3,226,472	R881*	probably null	Het
Fam71a	G	A	1: 191,164,353	T31M	probably benign	Het
Fat2	T	A	11: 55,282,304	R2528W	probably damaging	Het
Fgfr1	T	G	8: 25,573,839	F707C	probably damaging	Het
Frem2	G	C	3: 53,654,753	P778A	probably damaging	Het
Ganc	A	G	2: 120,430,599	Y255C	probably damaging	Het
Ginm1	A	T	10: 7,777,850	Y65*	probably null	Het
Gm11559	T	A	11: 99,864,881	C119S	unknown	Het
Gnai1	T	A	5: 18,289,551	H188L		Het
H6pd	C	T	4: 149,996,350	A13T	probably benign	Het
Hist1h2be	T	C	13: 23,585,923	K12E	probably benign	Het
Hoxd12	A	T	2: 74,675,246	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,833,194	L242M	probably damaging	Het
Il9r	C	A	11: 32,194,389	V139L	possibly damaging	Het
Immt	A	G	6: 71,846,369	D68G	probably damaging	Het
Itsn2	A	G	12: 4,632,985	I304V	unknown	Het
Lgr4	G	A	2: 109,996,629	W159*	probably null	Het
Lin52	G	A	12: 84,457,954	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,719,453	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,456,778	R180S	possibly damaging	Het
Lrrc29	T	C	8: 105,312,898	D127G	probably damaging	Het
Lrrc36	A	T	8: 105,449,769	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,329,755	Q235L	unknown	Het
Maml2	A	G	9: 13,621,607	M706V		Het
Mc5r	G	T	18: 68,339,668	C366F	probably damaging	Het
Mlip	T	C	9: 77,164,842	R244G	probably benign	Het
Muc16	T	A	9: 18,585,013	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046	H73N	possibly damaging	Het
Nf1	A	G	11: 79,564,943	M565V	probably benign	Het
Nphp1	G	A	2: 127,761,217	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,564,026	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,800,409	N361Y	probably damaging	Het
Olfr1045	A	G	2: 86,198,573	Y60H	probably damaging	Het
Olfr1309	A	T	2: 111,983,327	L249*	probably null	Het
Olfr308	A	G	7: 86,321,574	I126T	probably damaging	Het
Olfr461	G	T	6: 40,544,895	A28E	probably damaging	Het
Olfr518	A	T	7: 108,880,816	H263Q	probably damaging	Het
Olfr836	A	G	9: 19,121,669	Y235C	probably benign	Het
Olfr993	A	T	2: 85,414,444	V145E	probably damaging	Het
Orc5	A	G	5: 22,523,584	F308L	probably benign	Het
Padi1	T	A	4: 140,832,404	Y54F	probably benign	Het
Parp1	A	G	1: 180,569,100	K23E	possibly damaging	Het
Pate1	A	T	9: 35,685,972	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,756,860	H2R	probably benign	Het
Pcnx2	G	A	8: 125,887,083	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,859,734	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,507,325	N254K	probably damaging	Het
Psd	A	G	19: 46,324,454	L159P	probably benign	Het
Ptprf	A	G	4: 118,231,669	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,937,633	S92T	probably benign	Het
Rabgef1	A	G	5: 130,187,351		probably benign	Het
Ralgapa1	C	A	12: 55,709,004	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,385,463	L594Q	probably benign	Het
Ryr2	T	A	13: 11,738,194	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,439,717	L13P	unknown	Het
Sppl3	C	A	5: 115,082,335	T102K	probably damaging	Het
Srgap2	A	T	1: 131,291,613	Y264*	probably null	Het
Stxbp2	T	C	8: 3,641,151	M465T		Het
Sumf2	A	G	5: 129,862,710	K305R	probably benign	Het
Susd2	T	A	10: 75,642,565	Y59F	probably benign	Het
Taco1	T	C	11: 106,072,617	V198A	probably benign	Het
Tas2r136	A	T	6: 132,777,906	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,184,898	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,564,059	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,617,800	Y457*	probably null	Het
Ttc38	A	G	15: 85,852,861	T316A	probably benign	Het
Ubqln4	T	A	3: 88,555,910	N127K	probably benign	Het
Wdr91	A	T	6: 34,904,626	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,302,755	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,430,209	C140R	probably damaging	Het
Zfp266	T	C	9: 20,502,095	T90A	probably benign	Het
Zfp407	A	T	18: 84,559,042	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,638,277	S135G	probably benign	Het
Zscan29	A	T	2: 121,160,988	I773N	probably damaging	Het
Zswim5	T	A	4: 116,980,834	V787E	possibly damaging	Het

Other mutations in Rnf38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Rnf38	APN	4	44137645	missense	probably benign	0.09
IGL01992:Rnf38	APN	4	44138806	missense	probably damaging	1.00
IGL02682:Rnf38	APN	4	44133745	missense	probably damaging	1.00
IGL02951:Rnf38	APN	4	44129619	nonsense	probably null
IGL03032:Rnf38	APN	4	44152529	missense	probably damaging	0.99
IGL03326:Rnf38	APN	4	44149182	missense	probably benign	0.27
R0335:Rnf38	UTSW	4	44152507	missense	possibly damaging	0.59
R0336:Rnf38	UTSW	4	44152350	splice site	probably benign
R1473:Rnf38	UTSW	4	44131584	missense	probably benign	0.00
R1552:Rnf38	UTSW	4	44142468	splice site	probably null
R1670:Rnf38	UTSW	4	44138681	missense	probably damaging	0.96
R1708:Rnf38	UTSW	4	44143593	missense	probably damaging	1.00
R1943:Rnf38	UTSW	4	44138748	missense	probably damaging	0.99
R2063:Rnf38	UTSW	4	44149098	missense	probably damaging	0.99
R4348:Rnf38	UTSW	4	44149100	missense	possibly damaging	0.84
R4352:Rnf38	UTSW	4	44149100	missense	possibly damaging	0.84
R4353:Rnf38	UTSW	4	44149100	missense	possibly damaging	0.84
R4618:Rnf38	UTSW	4	44142450	missense	probably damaging	1.00
R4967:Rnf38	UTSW	4	44152460	missense	probably damaging	1.00
R5230:Rnf38	UTSW	4	44149176	missense	probably benign	0.17
R6275:Rnf38	UTSW	4	44152408	missense	probably benign	0.11
R6855:Rnf38	UTSW	4	44149224	missense	probably damaging	1.00
R7200:Rnf38	UTSW	4	44137620	missense	probably benign	0.01
R7351:Rnf38	UTSW	4	44149102	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CCTTCAAGAAGTCTCTGAGAAGAG -3'
(R):5'- GCTGACAGAACTATCACACTCG -3'

Sequencing Primer
(F):5'- TCTCTGAGAAGAGTACTAATTTCCAC -3'
(R):5'- GAAACCTCAGCTCTCCTTCATAGG -3'

Posted On

2019-09-13