Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01813:R3hdm1'

154331

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 #

IGL01813

Quality Score

Status

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 128102970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140175 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably null
Transcript: ENSMUST00000036288

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211

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

probably null
Transcript: ENSMUST00000187023

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211

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 null
Transcript: ENSMUST00000187900

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211

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 null
Transcript: ENSMUST00000188381

SMART Domains

Protein: ENSMUSP00000140538
Gene: ENSMUSG00000056211

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191274

Predicted Effect

probably null
Transcript: ENSMUST00000189317

SMART Domains

Protein: ENSMUSP00000140175
Gene: ENSMUSG00000056211

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,117,936 (GRCm39)		probably benign	Het
Adgrb2	T	C	4: 129,906,359 (GRCm39)	V929A	probably benign	Het
Aldh2	T	C	5: 121,710,136 (GRCm39)	I400V	probably benign	Het
Atxn2l	T	C	7: 126,099,425 (GRCm39)	D84G	probably damaging	Het
Avpr1a	T	A	10: 122,284,916 (GRCm39)	N69K	probably damaging	Het
BC034090	G	A	1: 155,102,085 (GRCm39)	Q60*	probably null	Het
Bltp1	G	A	3: 36,982,669 (GRCm39)	S778N	possibly damaging	Het
Bub3	T	C	7: 131,170,362 (GRCm39)	S295P	probably benign	Het
Cacna1b	T	C	2: 24,499,902 (GRCm39)	S161G	probably damaging	Het
Clba1	C	T	12: 112,779,179 (GRCm39)	T272M	probably damaging	Het
Col6a4	T	A	9: 105,954,452 (GRCm39)	S296C	probably damaging	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Dync2h1	T	C	9: 7,122,799 (GRCm39)	I2052M	probably damaging	Het
Gm11627	T	C	11: 102,469,634 (GRCm39)		probably benign	Het
Jmjd8	A	T	17: 26,048,212 (GRCm39)		probably null	Het
Kmt2c	A	G	5: 25,495,802 (GRCm39)	V629A	possibly damaging	Het
Kremen1	T	C	11: 5,149,667 (GRCm39)	T335A	probably benign	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or12d17	A	G	17: 37,777,649 (GRCm39)	E184G	probably damaging	Het
Or8s10	A	G	15: 98,335,530 (GRCm39)	Y60C	possibly damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Pigk	A	T	3: 152,448,156 (GRCm39)	Q173L	probably damaging	Het
Pik3c2g	T	A	6: 139,599,407 (GRCm39)	N174K	possibly damaging	Het
Plb1	C	T	5: 32,486,429 (GRCm39)	H893Y	probably damaging	Het
Pus7	T	C	5: 23,965,302 (GRCm39)		probably benign	Het
Samd7	C	T	3: 30,808,435 (GRCm39)	P83S	probably benign	Het
Supt5	T	A	7: 28,023,400 (GRCm39)	Y293F	probably damaging	Het
Tbc1d30	T	C	10: 121,102,956 (GRCm39)	D692G	probably benign	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Tnn	A	T	1: 159,916,008 (GRCm39)	H1236Q	probably damaging	Het
Ubr3	T	C	2: 69,781,914 (GRCm39)	I667T	probably benign	Het
Vmn1r183	T	A	7: 23,754,985 (GRCm39)	F263I	probably benign	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
IGL01565:R3hdm1	APN	1	128,114,553 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04