Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:R3hdm4'

422936

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79910052-79921208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79912458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 162 (E162K)

Ref Sequence

ENSEMBL: ENSMUSP00000132266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045529] [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409] [ENSMUST00000171416] [ENSMUST00000181321] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000219867] [ENSMUST00000218970]

AlphaFold

Q4VBF2

Predicted Effect

probably benign
Transcript: ENSMUST00000045529

SMART Domains

Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	53	338	1.7e-6	PFAM
Pfam:7tm_1	59	323	7e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045628
AA Change: E162K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: E162K

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	1.2e-35	PFAM
Pfam:R3H	181	244	7.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105378

SMART Domains

Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
WD40	94	133	1.05e-7	SMART
Blast:WD40	143	169	4e-8	BLAST
low complexity region	206	217	N/A	INTRINSIC
WD40	226	267	1.53e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163125

Predicted Effect

probably benign
Transcript: ENSMUST00000164705

SMART Domains

Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	172	6.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165684

SMART Domains

Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
WD40	95	134	1.05e-7	SMART
Blast:WD40	144	170	4e-8	BLAST
low complexity region	207	218	N/A	INTRINSIC
WD40	227	268	1.53e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166964

SMART Domains

Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	59	98	1.05e-7	SMART
Pfam:Med16	108	162	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170409

SMART Domains

Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	105	1.1e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171416
AA Change: E162K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: E162K

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	4.9e-39	PFAM
Pfam:R3H	183	243	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178620

Predicted Effect

probably benign
Transcript: ENSMUST00000181321

Predicted Effect

probably benign
Transcript: ENSMUST00000217976

Predicted Effect

probably benign
Transcript: ENSMUST00000218750

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219883

Meta Mutation Damage Score

0.1452

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in R3hdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:R3hdm4	APN	10	79912091	missense	probably damaging	1.00
PIT4472001:R3hdm4	UTSW	10	79913555	critical splice donor site	probably null
R0801:R3hdm4	UTSW	10	79913357	unclassified	probably benign
R1167:R3hdm4	UTSW	10	79912073	critical splice donor site	probably null
R3622:R3hdm4	UTSW	10	79912681	missense	possibly damaging	0.96
R5264:R3hdm4	UTSW	10	79913341	missense	probably benign	0.19
R5268:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5269:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5357:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5358:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5360:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5362:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5434:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5435:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5442:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5534:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5921:R3hdm4	UTSW	10	79913619	missense	probably damaging	1.00
R6041:R3hdm4	UTSW	10	79913661	missense	possibly damaging	0.46
R7391:R3hdm4	UTSW	10	79911109	missense	probably benign	0.00
R7496:R3hdm4	UTSW	10	79916874	missense	probably damaging	0.99
R7913:R3hdm4	UTSW	10	79911945	missense	probably damaging	1.00
R7983:R3hdm4	UTSW	10	79912723	missense	probably damaging	1.00
R9329:R3hdm4	UTSW	10	79913559	missense	probably damaging	1.00
R9706:R3hdm4	UTSW	10	79916821	critical splice donor site	probably null
X0022:R3hdm4	UTSW	10	79913652	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACATTCATTTCCACTGCCCAG -3'
(R):5'- CGTTACTTGGAGGATGAGAGCC -3'

Sequencing Primer
(F):5'- AGTCCTCTCCTTCCTAACCACTG -3'
(R):5'- CCAGGGCAAGCGGAGAC -3'

Posted On

2016-08-04