Mutagenetix > Incidental Mutation

Incidental Mutation 'R6756:R3hdm1'

531051

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6756 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GAA to GAAA at 128162811 bp (GRCm38)

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

probably benign
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

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 benign
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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194793

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,259,353		probably null	Het
Adam7	T	C	14: 68,525,279	T166A	probably benign	Het
Ahnak	G	A	19: 9,007,561	V2070M	possibly damaging	Het
Atp6v1a	T	A	16: 44,089,058	T537S	probably benign	Het
Atp8b3	C	T	10: 80,526,061	E719K	possibly damaging	Het
BC022687	T	C	12: 112,812,200	L192P	probably damaging	Het
Dpy19l1	T	C	9: 24,473,784	T250A	probably damaging	Het
Fra10ac1	A	C	19: 38,215,865	Y88D	probably damaging	Het
Gm13757	T	C	2: 88,446,734	D68G	possibly damaging	Het
Gm21738	C	T	14: 19,418,824	V35I	possibly damaging	Het
H2-M9	G	T	17: 36,642,335	H27N	probably damaging	Het
Hivep2	T	C	10: 14,132,559	C1634R	probably damaging	Het
Meiob	A	T	17: 24,839,532	T470S	possibly damaging	Het
Ms4a7	T	C	19: 11,324,525	H35R	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nf1	T	A	11: 79,444,587		probably null	Het
Npc1l1	T	C	11: 6,215,153	Y1053C	probably damaging	Het
Olfr559	T	C	7: 102,724,088	N134S	probably benign	Het
Pcdh10	T	C	3: 45,380,106	V285A	possibly damaging	Het
Phldb2	A	T	16: 45,808,320	C550S	probably benign	Het
Phldb3	T	C	7: 24,627,331	Y595H	probably damaging	Het
Plekha8	C	T	6: 54,624,140	Q288*	probably null	Het
Ppp1r36	G	A	12: 76,427,922	A64T	probably benign	Het
Ptprd	T	C	4: 75,955,299	T1320A	probably damaging	Het
Recql4	T	C	15: 76,704,859	D943G	probably benign	Het
Slc24a2	A	G	4: 87,176,292	I330T	probably benign	Het
Srcin1	T	C	11: 97,535,010	D433G	probably damaging	Het
Upb1	A	G	10: 75,428,301	T194A	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
IGL01461:R3hdm1	APN	1	128178906	missense	probably damaging	1.00
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
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
R7896:R3hdm1	UTSW	1	128168966	splice site	probably null
R8391:R3hdm1	UTSW	1	128193478	missense
R8486:R3hdm1	UTSW	1	128178920	missense	probably benign	0.11
R8490:R3hdm1	UTSW	1	128235127	missense	probably benign	0.26
R8947:R3hdm1	UTSW	1	128174957	missense	possibly damaging	0.60
R8990:R3hdm1	UTSW	1	128179096	missense	probably damaging	1.00
R9141:R3hdm1	UTSW	1	128236475	missense	probably damaging	1.00
R9195:R3hdm1	UTSW	1	128162238	missense	probably benign	0.28
R9426:R3hdm1	UTSW	1	128236475	missense	probably damaging	1.00
R9469:R3hdm1	UTSW	1	128179184	critical splice donor site	probably null
X0017:R3hdm1	UTSW	1	128167921	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128169033	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATTATGCCCATTCTTGCTATTGC -3'
(R):5'- CACCTGGGATTTTGTTAACAAGTG -3'

Sequencing Primer
(F):5'- GGGGCTTTTGAATATGCC -3'
(R):5'- CTGGGATTTTGTTAACAAGTGTTAGC -3'

Posted On

2018-08-01