Mutagenetix > Incidental Mutations

Incidental Mutation 'R0179:R3hdm2'

23054

Institutional Source

Beutler Lab

Gene Symbol

R3hdm2

Ensembl Gene

ENSMUSG00000025404

Gene Name

R3H domain containing 2

Synonyms

MMRRC Submission

038447-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

127380327-127499384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127495106 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 818 (C818Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000168079] [ENSMUST00000169888] [ENSMUST00000170336]

Predicted Effect

probably damaging
Transcript: ENSMUST00000064793
AA Change: C805Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: C805Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	457	N/A	INTRINSIC
low complexity region	699	730	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077046
AA Change: C850Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: C850Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	7.4e-14	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105249
AA Change: C798Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: C798Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.4e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	692	723	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105250
AA Change: C832Y

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

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: C832Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105251
AA Change: C832Y

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

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: C832Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164161

SMART Domains

Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164831
AA Change: C784Y

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

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: C784Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	678	709	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166820
AA Change: C850Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: C850Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.7e-12	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168079
AA Change: C142Y

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

SMART Domains

Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404
AA Change: C142Y

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168268

Predicted Effect

probably damaging
Transcript: ENSMUST00000169888
AA Change: C549Y

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

SMART Domains

Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: C549Y

Domain	Start	End	E-Value	Type
Pfam:SUZ	7	54	4.7e-12	PFAM
low complexity region	71	83	N/A	INTRINSIC
low complexity region	163	194	N/A	INTRINSIC
low complexity region	443	474	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170336
AA Change: C818Y

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

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: C818Y

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	467	N/A	INTRINSIC
low complexity region	712	743	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000171426
AA Change: C56Y

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,214	S516P	probably benign	Het
4932431P20Rik	A	G	7: 29,535,940		noncoding transcript	Het
Adamts1	C	T	16: 85,795,465	S948N	probably benign	Het
Adck1	A	T	12: 88,459,172	M457L	possibly damaging	Het
Adprm	A	T	11: 67,038,225	H313Q	possibly damaging	Het
Adssl1	T	C	12: 112,632,269	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,048	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Ankrd50	A	G	3: 38,455,314	V968A	possibly damaging	Het
Brf2	T	C	8: 27,125,868	D163G	possibly damaging	Het
Cd226	C	A	18: 89,207,139	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,918,608	D23G	probably benign	Het
Cdc7	T	C	5: 106,965,039	S8P	probably benign	Het
Cdh8	C	T	8: 99,111,712	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516	F2534L	probably benign	Het
Ckb	T	C	12: 111,670,176	T255A	probably benign	Het
Cntnap5c	G	T	17: 57,769,625	W19L	probably benign	Het
Cntrl	A	G	2: 35,167,859	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cop1	A	G	1: 159,250,066	D157G	probably benign	Het
Csf2rb	A	C	15: 78,336,372	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 60,896,293	D52G	possibly damaging	Het
Dcaf7	A	T	11: 106,051,797	D190V	probably damaging	Het
Depdc5	T	A	5: 32,901,574		probably benign	Het
Dgkq	A	G	5: 108,658,200		probably benign	Het
Dhrs2	A	G	14: 55,240,476	T222A	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
E4f1	G	C	17: 24,451,437	T92S	possibly damaging	Het
Ep400	A	T	5: 110,668,649	S2669T	probably damaging	Het
Eprs	T	G	1: 185,413,547	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,022,027	K99*	probably null	Het
Fzr1	A	T	10: 81,369,070		probably benign	Het
Gcc2	C	T	10: 58,276,650	R1001C	probably benign	Het
Gm4884	A	G	7: 41,043,828	D407G	probably benign	Het
Golga4	A	T	9: 118,560,740		probably null	Het
Gp2	T	G	7: 119,452,317	D225A	possibly damaging	Het
Gramd1a	T	A	7: 31,142,418	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,839,227	N121I	probably benign	Het
Htr6	A	T	4: 139,062,126	L276Q	probably damaging	Het
Itga9	A	T	9: 118,661,386	I262F	probably benign	Het
Lamc3	A	G	2: 31,915,084		probably benign	Het
Large1	T	C	8: 73,098,846	N200S	probably benign	Het
Lct	C	T	1: 128,327,685	V207I	probably benign	Het
Marf1	C	A	16: 14,151,176	L144F	probably damaging	Het
Morc2b	A	T	17: 33,136,982	Y605*	probably null	Het
Mtus1	G	T	8: 41,002,361	L87I	possibly damaging	Het
Muc2	A	G	7: 141,748,971	Y17C	probably damaging	Het
Myf5	T	C	10: 107,485,918	D5G	possibly damaging	Het
Nasp	C	T	4: 116,602,157	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,552,265		probably null	Het
Nrg2	T	C	18: 36,022,415	Q447R	probably benign	Het
Ntn5	G	A	7: 45,686,313	G56D	probably damaging	Het
Oasl2	A	G	5: 114,910,912	R138G	probably benign	Het
Olfr1209	A	T	2: 88,909,893	C167S	possibly damaging	Het
Olfr1489	T	A	19: 13,633,140	F10I	probably damaging	Het
Olfr827	T	C	10: 130,210,338	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,322,559	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,525,000	E128G	probably damaging	Het
Prpf19	T	C	19: 10,897,808		probably benign	Het
Ptpn3	T	A	4: 57,270,118	T15S	probably benign	Het
Rad51d	A	G	11: 82,889,998	V39A	possibly damaging	Het
Rptor	A	T	11: 119,872,367	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,542,707	D41N	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Ssbp3	T	C	4: 107,046,388	S334P	probably damaging	Het
Suco	A	G	1: 161,876,305		probably benign	Het
Synj1	T	C	16: 90,964,631	K649R	possibly damaging	Het
Tdp2	C	T	13: 24,840,448	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,996,882		probably benign	Het
Trerf1	T	C	17: 47,316,662		noncoding transcript	Het
Trip10	T	C	17: 57,262,349		probably benign	Het
Tsen54	A	T	11: 115,822,030	S131C	probably damaging	Het
Unc5c	A	T	3: 141,818,067	R794*	probably null	Het
Vmn2r59	A	T	7: 42,047,008	Y103*	probably null	Het
Washc5	A	G	15: 59,352,530	V460A	probably benign	Het
Whamm	A	G	7: 81,594,015	T358A	probably benign	Het
Xlr4b	C	T	X: 73,218,671		probably benign	Het
Zbbx	C	T	3: 75,085,562		probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp27	T	A	7: 29,896,425	E38D	possibly damaging	Het

Other mutations in R3hdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:R3hdm2	APN	10	127458850	missense	probably damaging	1.00
IGL02114:R3hdm2	APN	10	127484109	missense	probably damaging	0.99
IGL02116:R3hdm2	APN	10	127498552	missense	probably damaging	1.00
IGL02549:R3hdm2	APN	10	127484225	splice site	probably benign
IGL02647:R3hdm2	APN	10	127459484	missense	probably damaging	1.00
IGL02696:R3hdm2	APN	10	127465019	splice site	probably null
IGL02732:R3hdm2	APN	10	127484060	missense	probably benign	0.43
R0131:R3hdm2	UTSW	10	127498453	missense	probably damaging	1.00
R0131:R3hdm2	UTSW	10	127498453	missense	probably damaging	1.00
R0132:R3hdm2	UTSW	10	127498453	missense	probably damaging	1.00
R0157:R3hdm2	UTSW	10	127471989	missense	probably damaging	0.99
R0196:R3hdm2	UTSW	10	127484521	missense	probably damaging	1.00
R0401:R3hdm2	UTSW	10	127458173	missense	possibly damaging	0.90
R0505:R3hdm2	UTSW	10	127457700	missense	probably damaging	1.00
R0606:R3hdm2	UTSW	10	127444444	missense	probably damaging	1.00
R1188:R3hdm2	UTSW	10	127452755	missense	probably benign	0.02
R1466:R3hdm2	UTSW	10	127476690	missense	probably benign	0.01
R1466:R3hdm2	UTSW	10	127476690	missense	probably benign	0.01
R1503:R3hdm2	UTSW	10	127471826	nonsense	probably null
R1584:R3hdm2	UTSW	10	127476690	missense	probably benign	0.01
R1652:R3hdm2	UTSW	10	127495091	missense	probably benign	0.00
R1901:R3hdm2	UTSW	10	127498468	missense	possibly damaging	0.91
R3735:R3hdm2	UTSW	10	127465010	missense	probably benign
R5261:R3hdm2	UTSW	10	127498416	missense	probably damaging	1.00
R5329:R3hdm2	UTSW	10	127458893	missense	probably damaging	1.00
R5379:R3hdm2	UTSW	10	127471902	missense	probably damaging	1.00
R5380:R3hdm2	UTSW	10	127485447	missense	probably damaging	1.00
R5387:R3hdm2	UTSW	10	127485434	missense	probably damaging	1.00
R5558:R3hdm2	UTSW	10	127444402	missense	probably damaging	1.00
R5773:R3hdm2	UTSW	10	127444303	utr 5 prime	probably benign
R5936:R3hdm2	UTSW	10	127471812	missense	probably damaging	1.00
R6024:R3hdm2	UTSW	10	127459480	missense	probably damaging	1.00
R6160:R3hdm2	UTSW	10	127484507	missense	probably damaging	1.00
R6191:R3hdm2	UTSW	10	127484515	missense	probably damaging	1.00
R7058:R3hdm2	UTSW	10	127484513	missense	probably damaging	1.00
R7224:R3hdm2	UTSW	10	127458153	missense	probably damaging	1.00
R7253:R3hdm2	UTSW	10	127481775	missense	probably damaging	1.00
R7305:R3hdm2	UTSW	10	127476678	missense	probably benign	0.08
R7349:R3hdm2	UTSW	10	127492646	missense	probably benign
R7431:R3hdm2	UTSW	10	127458147	missense	probably benign	0.16
R7891:R3hdm2	UTSW	10	127498574	missense	probably benign	0.07
R8503:R3hdm2	UTSW	10	127492612	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCTTGCCTCGCATACGTGAAGTC -3'
(R):5'- TCAGAGGATGTGCTTCTGTCCTGTC -3'

Sequencing Primer
(F):5'- TGACCTGGGCAGTGCTTAC -3'
(R):5'- TGTCTCCCTGCCTGTCG -3'

Posted On

2013-04-16