Mutagenetix > Incidental Mutation

Incidental Mutation 'R1319:R3hdm1'

157618

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

039385-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128159142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 939 (R939H)

Ref Sequence

ENSEMBL: ENSMUSP00000043103 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000036288
AA Change: R939H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: R939H

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: ENSMUST00000188570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190288

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	C	14: 68,846,578 (GRCm39)	E745G	probably benign	Het
Adamts12	G	T	15: 11,286,877 (GRCm39)	K827N	probably benign	Het
Ang2	T	C	14: 51,433,164 (GRCm39)	T73A	probably benign	Het
Bbs10	T	C	10: 111,134,735 (GRCm39)	L51P	probably damaging	Het
Bean1	T	C	8: 104,943,856 (GRCm39)	I137T	probably benign	Het
Cimip1	A	T	2: 173,369,716 (GRCm39)	S77C	probably damaging	Het
Cttnbp2	T	C	6: 18,434,629 (GRCm39)	T410A	probably benign	Het
Cyp4a10	A	C	4: 115,378,342 (GRCm39)	I143L	probably damaging	Het
Dlg2	A	T	7: 92,087,231 (GRCm39)	Q788L	probably damaging	Het
Epha10	G	A	4: 124,775,707 (GRCm39)	V14I	probably benign	Het
Eprs1	G	A	1: 185,117,159 (GRCm39)	D401N	probably damaging	Het
Fam169a	T	C	13: 97,234,070 (GRCm39)	V114A	probably damaging	Het
Fbn2	G	A	18: 58,333,682 (GRCm39)	P178S	possibly damaging	Het
Fcrl2	A	C	3: 87,169,484 (GRCm39)		probably null	Het
Grm1	G	T	10: 10,565,142 (GRCm39)	H1055Q	probably benign	Het
Mcm6	T	C	1: 128,276,789 (GRCm39)	N267S	probably benign	Het
Or5an1c	T	C	19: 12,218,866 (GRCm39)	D53G	probably damaging	Het
Phc3	T	C	3: 30,984,018 (GRCm39)	I699V	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pyroxd1	T	C	6: 142,304,874 (GRCm39)	V367A	probably benign	Het
Rag1	A	T	2: 101,473,537 (GRCm39)	I535N	probably damaging	Het
Rhot1	T	C	11: 80,136,847 (GRCm39)	C310R	probably damaging	Het
Tnrc6a	G	A	7: 122,783,474 (GRCm39)	V1481M	probably benign	Het
Vmn1r234	A	T	17: 21,449,172 (GRCm39)	M29L	probably benign	Het
Vmn2r68	A	G	7: 84,881,700 (GRCm39)	I460T	probably damaging	Het
Zfhx3	T	A	8: 109,660,465 (GRCm39)	Y1240N	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGCAACATTATTGCCAAGTTACAAA -3'
(R):5'- CTATGAACTCCACAAGACGCATGGAT -3'

Sequencing Primer
(F):5'- TGCCAAGTTACAAAGAAGGTTTC -3'
(R):5'- gtcatttcgctatcatacactgtc -3'

Posted On

2014-02-18