Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:R3hdm1'

168264

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128197005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 343 (Y343C)

Ref Sequence

ENSEMBL: ENSMUSP00000140209 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036288
AA Change: Y686C

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

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Y686C

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: ENSMUST00000185853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189982

Predicted Effect

probably damaging
Transcript: ENSMUST00000190056
AA Change: Y343C

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

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: Y343C

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	probably 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
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'- AGCACAGTGGTAAATGTCTTTTGCTCT -3'
(R):5'- GCAGAACCTTCATGTTATGCCCTCA -3'

Sequencing Primer
(F):5'- ccccttgcctctgtgtc -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2014-04-13