Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01565:R3hdm1'

90949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01565

Quality Score

Status

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128114553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 511 (Q511H)

Ref Sequence

ENSEMBL: ENSMUSP00000043103 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036288
AA Change: Q511H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Q511H

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

unknown
Transcript: ENSMUST00000185853
AA Change: Q138H

Predicted Effect

probably damaging
Transcript: ENSMUST00000187023
AA Change: Q455H

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

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: Q455H

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

probably damaging
Transcript: ENSMUST00000187900
AA Change: Q511H

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

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: Q511H

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: ENSMUST00000190056
AA Change: Q202H

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

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: Q202H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,439,222 (GRCm39)	T36A	probably damaging	Het
Ankrd35	A	G	3: 96,592,101 (GRCm39)	M796V	probably damaging	Het
Brpf1	A	T	6: 113,293,611 (GRCm39)	Q560L	probably damaging	Het
Dbil5	T	G	11: 76,109,091 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,924,655 (GRCm39)	K2200E	possibly damaging	Het
Gtf2i	T	C	5: 134,284,767 (GRCm39)	I471V	probably damaging	Het
Has3	T	A	8: 107,601,077 (GRCm39)	W180R	probably benign	Het
Lrfn1	T	C	7: 28,158,194 (GRCm39)	C38R	probably damaging	Het
Lrsam1	C	T	2: 32,826,507 (GRCm39)	A455T	probably damaging	Het
Mettl2	C	A	11: 105,017,364 (GRCm39)	D14E	probably benign	Het
Mocs1	G	A	17: 49,759,348 (GRCm39)	R364Q	probably benign	Het
Ndst2	A	T	14: 20,778,274 (GRCm39)	V435E	probably damaging	Het
Pi4ka	A	T	16: 17,207,306 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,772,211 (GRCm39)	D143A	possibly damaging	Het
Polq	A	C	16: 36,833,475 (GRCm39)	N56T	probably benign	Het
Prmt7	T	G	8: 106,977,041 (GRCm39)	D584E	probably damaging	Het
Rbm33	T	C	5: 28,596,077 (GRCm39)		probably benign	Het
Rdh19	T	G	10: 127,695,464 (GRCm39)	M226R	probably benign	Het
Rock2	G	A	12: 17,003,318 (GRCm39)	D386N	possibly damaging	Het
Slc7a2	A	G	8: 41,352,275 (GRCm39)	T96A	possibly damaging	Het
Spata2	A	G	2: 167,326,214 (GRCm39)	S202P	probably damaging	Het
Swsap1	T	A	9: 21,868,524 (GRCm39)	D265E	possibly damaging	Het
Tdrd3	A	T	14: 87,709,668 (GRCm39)	I117L	probably benign	Het
Ticrr	A	G	7: 79,344,296 (GRCm39)	D1387G	probably benign	Het
Tnfaip6	A	G	2: 51,945,846 (GRCm39)	S231G	probably damaging	Het
Trim50	T	A	5: 135,396,355 (GRCm39)	D434E	probably benign	Het
Tyw5	T	C	1: 57,433,240 (GRCm39)	Y105C	probably damaging	Het
Usp50	G	T	2: 126,619,888 (GRCm39)	C141*	probably null	Het
Zfp647	A	T	15: 76,795,870 (GRCm39)	C263*	probably null	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128,164,176 (GRCm39)	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128,102,700 (GRCm39)	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128,163,369 (GRCm39)	splice site	probably benign
IGL00885:R3hdm1	APN	1	128,164,175 (GRCm39)	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128,089,933 (GRCm39)	intron	probably benign
IGL01137:R3hdm1	APN	1	128,109,612 (GRCm39)	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128,144,280 (GRCm39)	missense	probably benign
IGL01461:R3hdm1	APN	1	128,106,643 (GRCm39)	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128,102,970 (GRCm39)	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128,114,497 (GRCm39)	nonsense	probably null
IGL01934:R3hdm1	APN	1	128,164,272 (GRCm39)	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128,096,775 (GRCm39)	missense	possibly damaging	0.48
IGL02532:R3hdm1	APN	1	128,124,836 (GRCm39)	critical splice donor site	probably null
IGL02606:R3hdm1	APN	1	128,118,456 (GRCm39)	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128,102,677 (GRCm39)	splice site	probably benign
driven	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128,138,929 (GRCm39)	splice site	probably benign
R0280:R3hdm1	UTSW	1	128,090,512 (GRCm39)	missense	probably benign	0.00
R0482:R3hdm1	UTSW	1	128,112,254 (GRCm39)	missense	probably benign	0.12
R0521:R3hdm1	UTSW	1	128,121,440 (GRCm39)	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128,159,174 (GRCm39)	nonsense	probably null
R0698:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128,121,333 (GRCm39)	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128,162,821 (GRCm39)	missense	probably damaging	1.00
R1991:R3hdm1	UTSW	1	128,096,753 (GRCm39)	missense	probably damaging	0.99
R2140:R3hdm1	UTSW	1	128,118,430 (GRCm39)	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128,114,573 (GRCm39)	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128,114,666 (GRCm39)	intron	probably benign
R4564:R3hdm1	UTSW	1	128,149,396 (GRCm39)	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128,102,975 (GRCm39)	splice site	probably benign
R4649:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128,164,503 (GRCm39)	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128,159,084 (GRCm39)	missense	probably benign
R5554:R3hdm1	UTSW	1	128,164,409 (GRCm39)	missense	probably benign	0.27
R5979:R3hdm1	UTSW	1	128,138,960 (GRCm39)	missense	probably benign	0.04
R6123:R3hdm1	UTSW	1	128,096,773 (GRCm39)	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128,079,598 (GRCm39)	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6639:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6756:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R7168:R3hdm1	UTSW	1	128,144,232 (GRCm39)	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128,138,945 (GRCm39)	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128,081,129 (GRCm39)	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128,109,948 (GRCm39)	splice site	probably null
R7896:R3hdm1	UTSW	1	128,096,703 (GRCm39)	splice site	probably null
R8391:R3hdm1	UTSW	1	128,121,215 (GRCm39)	missense
R8486:R3hdm1	UTSW	1	128,106,657 (GRCm39)	missense	probably benign	0.11
R8490:R3hdm1	UTSW	1	128,162,864 (GRCm39)	missense	probably benign	0.26
R8947:R3hdm1	UTSW	1	128,102,694 (GRCm39)	missense	possibly damaging	0.60
R8990:R3hdm1	UTSW	1	128,106,833 (GRCm39)	missense	probably damaging	1.00
R9141:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9195:R3hdm1	UTSW	1	128,089,975 (GRCm39)	missense	probably benign	0.28
R9426:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9469:R3hdm1	UTSW	1	128,106,921 (GRCm39)	critical splice donor site	probably null
X0017:R3hdm1	UTSW	1	128,095,658 (GRCm39)	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128,096,770 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09