Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Rnf38'

507567

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: 0.501) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44126210-44233789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44152408 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 52 (H52L)

Ref Sequence

ENSEMBL: ENSMUSP00000095702 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045793
AA Change: H20L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: H20L

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
AA Change: H52L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: H52L

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
AA Change: H20L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: H20L

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
AA Change: H20L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: H20L

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

noncoding transcript
Transcript: ENSMUST00000123844

Predicted Effect

probably benign
Transcript: ENSMUST00000128426
AA Change: H20L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696
AA Change: H20L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129621

Predicted Effect

probably benign
Transcript: ENSMUST00000136730
AA Change: H20L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
AA Change: H20L

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

noncoding transcript
Transcript: ENSMUST00000137194

Predicted Effect

probably benign
Transcript: ENSMUST00000143337
AA Change: H20L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696
AA Change: H20L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145760
AA Change: H20L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696
AA Change: H20L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153384

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	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
R6855:Rnf38	UTSW	4	44149224	missense	probably damaging	1.00
R7200:Rnf38	UTSW	4	44137620	missense	probably benign	0.01
R7326:Rnf38	UTSW	4	44158989	intron	probably benign
R7351:Rnf38	UTSW	4	44149102	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GGCCAAGATTCACTTAGTCTCTTTC -3'
(R):5'- CTTACGGGTTTATTCAGTTGATCC -3'

Sequencing Primer
(F):5'- AGGAGCTTAATCAATTCCTTATAACC -3'
(R):5'- CAGTTGATCCTTTTTGTTGCATTGGC -3'

Posted On

2018-03-15