Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:R3hdm2'

502572

Institutional Source

Beutler Lab

Gene Symbol

R3hdm2

Ensembl Gene

ENSMUSG00000025404

Gene Name

R3H domain containing 2

Synonyms

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127380327-127499384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127484515 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 569 (S569P)

Ref Sequence

ENSEMBL: ENSMUSP00000100886 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064793
AA Change: S542P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S542P

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: S587P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S587P

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: S535P

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

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S535P

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: S569P

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

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S569P

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: S569P

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

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S569P

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

noncoding transcript
Transcript: ENSMUST00000164469

Predicted Effect

probably damaging
Transcript: ENSMUST00000164831
AA Change: S521P

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

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S521P

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: S587P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S587P

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 benign
Transcript: ENSMUST00000168079

SMART Domains

Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404

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: S286P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: S286P

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: S555P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S555P

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

Meta Mutation Damage Score

0.0768

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGCAGTGGTGGTTTATTTC -3'
(R):5'- AGATTCCGGCCCCTTCTTAG -3'

Sequencing Primer
(F):5'- GGTTTATTTCAGACCTGTACAGTCAC -3'
(R):5'- CCGGCCCCTTCTTAGAAAGTTAATAG -3'

Posted On

2018-02-27