Mutagenetix > Incidental Mutation

Incidental Mutation 'R0698:R3hdm1'

62891

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

038882-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0698 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128181739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 309 (Y309C)

Ref Sequence

ENSEMBL: ENSMUSP00000141142 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036288
AA Change: Y309C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Y309C

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: Y21C

Predicted Effect

probably benign
Transcript: ENSMUST00000187023
AA Change: Y253C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: Y253C

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: Y309C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: Y309C

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 benign
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

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

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

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	C	T	16: 35,290,082	T873M	possibly damaging	Het
Ap4e1	G	A	2: 127,063,363	E985K	probably benign	Het
Arhgap18	T	C	10: 26,912,629	I579T	probably damaging	Het
Arhgef11	G	T	3: 87,733,459	A1308S	probably benign	Het
Arhgef5	A	G	6: 43,273,341	E342G	probably damaging	Het
Atm	T	C	9: 53,515,239	E573G	probably damaging	Het
Baz1b	T	C	5: 135,198,221	V92A	probably damaging	Het
Cmya5	A	G	13: 93,095,557	S1008P	probably damaging	Het
Col6a1	A	G	10: 76,716,280	V459A	unknown	Het
Cpne4	T	C	9: 104,925,795	S213P	probably damaging	Het
Dock10	T	A	1: 80,530,178	Q1672L	probably damaging	Het
Grm8	C	T	6: 27,363,914	C534Y	probably damaging	Het
Ints7	A	G	1: 191,594,464	M183V	probably damaging	Het
Invs	T	G	4: 48,396,364	S346A	probably benign	Het
Krtap9-3	C	A	11: 99,597,837	C73F	probably damaging	Het
Lrrtm4	T	C	6: 80,022,928	L441P	probably damaging	Het
Map4	C	T	9: 110,068,788	R81*	probably null	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Necab1	T	C	4: 15,005,041	N141S	probably benign	Het
Olfr412	A	T	11: 74,365,142	I158F	probably benign	Het
Pcdhb2	A	T	18: 37,297,366	E797D	probably benign	Het
Pclo	T	C	5: 14,712,516	Y3668H	unknown	Het
Peg10	T	A	6: 4,756,835		probably benign	Het
Psd2	A	G	18: 36,012,711	I723V	probably benign	Het
Ptprn2	C	T	12: 116,722,130	R70*	probably null	Het
Rab13	C	T	3: 90,224,736	T69M	probably damaging	Het
Rpl32	T	C	6: 115,805,590	N126S	probably benign	Het
Sis	C	A	3: 72,910,498	A1461S	probably damaging	Het
Slc2a13	T	C	15: 91,321,667	D439G	probably benign	Het
Spta1	T	C	1: 174,181,104	L258P	probably damaging	Het
Synj1	T	C	16: 90,960,615	T882A	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tada3	A	T	6: 113,367,007	L227Q	probably damaging	Het
Tet2	A	T	3: 133,467,384	S1706T	probably benign	Het
Ttc6	G	A	12: 57,673,216	V858I	probably benign	Het
Vps13c	C	A	9: 67,889,723	A464E	probably benign	Het
Zbtb17	T	C	4: 141,466,096		probably null	Het
Zcchc11	T	A	4: 108,555,533	M1477K	probably benign	Het
Zcwpw1	G	A	5: 137,817,521	E429K	probably benign	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
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
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'- AGCCTTCAGCAGCTAAGCCATC -3'
(R):5'- ACCTCTTGTCAGGACTGAGATTCCG -3'

Sequencing Primer
(F):5'- GCTAAGCCATCGCTCTAGCC -3'
(R):5'- AGATTCCGCTAAAGCTGCTG -3'

Posted On

2013-07-30