Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:R3hdm2'

169467

Institutional Source

Beutler Lab

Gene Symbol

R3hdm2

Ensembl Gene

ENSMUSG00000025404

Gene Name

R3H domain containing 2

Synonyms

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R1503 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

127380327-127499384 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 127471826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 319 (E319*)

Ref Sequence

ENSEMBL: ENSMUSP00000128659 (fasta)

Gene Model

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

AlphaFold

Q80TM6

Predicted Effect

probably null
Transcript: ENSMUST00000064793
AA Change: E319*

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: E319*

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 null
Transcript: ENSMUST00000077046
AA Change: E351*

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: E351*

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 null
Transcript: ENSMUST00000105249
AA Change: E333*

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: E333*

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 null
Transcript: ENSMUST00000105250
AA Change: E333*

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: E333*

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 null
Transcript: ENSMUST00000105251
AA Change: E333*

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: E333*

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 null
Transcript: ENSMUST00000164831
AA Change: E319*

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: E319*

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 null
Transcript: ENSMUST00000166820
AA Change: E351*

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: E351*

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 null
Transcript: ENSMUST00000169888
AA Change: E84*

SMART Domains

Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: E84*

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 null
Transcript: ENSMUST00000170336
AA Change: E319*

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: E319*

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

noncoding transcript
Transcript: ENSMUST00000171823

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	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
R0179:R3hdm2	UTSW	10	127495106	missense	probably damaging	1.00
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
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
R8477:R3hdm2	UTSW	10	127484160	missense	probably damaging	1.00
R8503:R3hdm2	UTSW	10	127492612	missense	possibly damaging	0.95
R8782:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R8783:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R8784:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R8787:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R8789:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R8790:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R9041:R3hdm2	UTSW	10	127484536	missense	probably damaging	1.00
R9198:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R9200:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R9202:R3hdm2	UTSW	10	127457652	missense	probably damaging	1.00
R9706:R3hdm2	UTSW	10	127498429	missense	probably benign	0.01
R9760:R3hdm2	UTSW	10	127444313	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCACTGGACCTTGTTCTGTCG -3'
(R):5'- GCCTTTACTGCTGCCAATGCTG -3'

Sequencing Primer
(F):5'- TGAAGTCAGTGTTCACACCC -3'
(R):5'- CTGCCAATGCTGTCGCC -3'

Posted On

2014-04-13