Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01461:R3hdm1'

87991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01461

Quality Score

Status

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128178906 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 197 (H197R)

Ref Sequence

ENSEMBL: ENSMUSP00000140538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187023] [ENSMUST00000187900] [ENSMUST00000188381] [ENSMUST00000189317] [ENSMUST00000190056]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036288
AA Change: H241R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: H241R

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	86	99	N/A	INTRINSIC
R3H	151	228	3.18e-22	SMART
Pfam:SUZ	249	302	8.8e-15	PFAM
low complexity region	391	424	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC
low complexity region	624	642	N/A	INTRINSIC
low complexity region	909	927	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185471

Predicted Effect

probably benign
Transcript: ENSMUST00000185853

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187023
AA Change: H185R

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: H185R

Domain	Start	End	E-Value	Type
R3H	95	172	1.9e-24	SMART
Pfam:SUZ	193	246	2.6e-11	PFAM
low complexity region	335	368	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187605

Predicted Effect

probably damaging
Transcript: ENSMUST00000187900
AA Change: H241R

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

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: H241R

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	86	99	N/A	INTRINSIC
R3H	151	228	3.18e-22	SMART
Pfam:SUZ	249	302	2.7e-14	PFAM
low complexity region	391	424	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188381
AA Change: H197R

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

SMART Domains

Protein: ENSMUSP00000140538
Gene: ENSMUSG00000056211
AA Change: H197R

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
R3H	107	184	3.18e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189317
AA Change: H227R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140175
Gene: ENSMUSG00000056211
AA Change: H227R

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
R3H	137	214	1.9e-24	SMART
Pfam:SUZ	235	287	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190056

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211

Domain	Start	End	E-Value	Type
low complexity region	82	115	N/A	INTRINSIC
low complexity region	202	225	N/A	INTRINSIC
low complexity region	281	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191274

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,095	F767S	probably benign	Het
2810474O19Rik	T	C	6: 149,331,515		probably benign	Het
Abca13	A	G	11: 9,403,834	T3719A	probably damaging	Het
Apob	A	T	12: 8,001,884	M1137L	probably benign	Het
Brd9	C	T	13: 73,951,598	Q445*	probably null	Het
Cdh23	T	C	10: 60,409,147	T990A	possibly damaging	Het
Cenpf	A	G	1: 189,657,096	L1513S	probably damaging	Het
Col27a1	A	G	4: 63,224,243	K56R	probably damaging	Het
Cryaa	A	G	17: 31,681,026	Y118C	probably damaging	Het
Dtl	T	C	1: 191,546,617	T378A	possibly damaging	Het
E330020D12Rik	A	G	1: 153,408,359		noncoding transcript	Het
F7	A	G	8: 13,032,245	D145G	possibly damaging	Het
Flvcr2	A	G	12: 85,803,131		probably benign	Het
Hltf	A	T	3: 20,099,939	K680*	probably null	Het
Ing1	T	G	8: 11,561,453	F22V	probably benign	Het
Ipo5	A	G	14: 120,928,533	D330G	probably damaging	Het
Itgax	G	T	7: 128,135,018	D321Y	probably damaging	Het
Kdelc1	T	C	1: 44,110,934	Q365R	probably damaging	Het
Kel	A	C	6: 41,701,911		probably null	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mast4	T	A	13: 102,754,068	M925L	probably damaging	Het
Miga1	C	T	3: 152,335,297	E78K	probably damaging	Het
Olfr1204	G	T	2: 88,852,325	C125F	probably damaging	Het
Olfr58	T	A	9: 19,783,949		probably null	Het
Pkdrej	T	C	15: 85,820,374	I454V	possibly damaging	Het
Prpf6	C	A	2: 181,631,511	T283N	probably benign	Het
Smpd4	A	C	16: 17,621,506	Q7P	probably damaging	Het
Vmn2r84	A	T	10: 130,391,225	I248K	possibly damaging	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128236439	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128174963	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128235632	splice site	probably benign
IGL00885:R3hdm1	APN	1	128236438	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128162196	intron	probably benign
IGL01137:R3hdm1	APN	1	128181875	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128216543	missense	probably benign
IGL01565:R3hdm1	APN	1	128186816	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128175233	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128186760	nonsense	probably null
IGL01934:R3hdm1	APN	1	128236535	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128169038	missense	possibly damaging	0.48
IGL02532:R3hdm1	APN	1	128197099	critical splice donor site	probably null
IGL02606:R3hdm1	APN	1	128190719	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128174940	splice site	probably benign
driven	UTSW	1	128193565	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128211192	splice site	probably benign
R0280:R3hdm1	UTSW	1	128162775	missense	probably benign	0.00
R0482:R3hdm1	UTSW	1	128184517	missense	probably benign	0.12
R0521:R3hdm1	UTSW	1	128193703	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128231437	nonsense	probably null
R0698:R3hdm1	UTSW	1	128181739	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128181739	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128193596	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128197005	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128197005	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128235084	missense	probably damaging	1.00
R1991:R3hdm1	UTSW	1	128169016	missense	probably damaging	0.99
R2140:R3hdm1	UTSW	1	128190693	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128186836	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128186929	intron	probably benign
R4564:R3hdm1	UTSW	1	128221659	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128175238	splice site	probably benign
R4649:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128236766	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128231347	missense	probably benign
R5554:R3hdm1	UTSW	1	128236672	missense	probably benign	0.27
R5979:R3hdm1	UTSW	1	128211223	missense	probably benign	0.04
R6123:R3hdm1	UTSW	1	128169036	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128151861	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128193565	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128162811	frame shift	probably null
R6639:R3hdm1	UTSW	1	128162811	frame shift	probably null
R6756:R3hdm1	UTSW	1	128162811	frame shift	probably null
R7168:R3hdm1	UTSW	1	128216495	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128211208	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128153392	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128182211	splice site	probably null
X0017:R3hdm1	UTSW	1	128167921	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128169033	missense	probably damaging	1.00

Posted On

2013-11-18