Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:R3hdm2'

54159

Institutional Source

Beutler Lab

Gene Symbol

R3hdm2

Ensembl Gene

ENSMUSG00000025404

Gene Name

R3H domain containing 2

Synonyms

1300003K24Rik

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R0606 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

127216201-127335253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127280313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 45 (G45D)

Ref Sequence

ENSEMBL: ENSMUSP00000126185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000111628] [ENSMUST00000164161] [ENSMUST00000168780] [ENSMUST00000170336] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000171434] [ENSMUST00000170164]

AlphaFold

Q80TM6

Predicted Effect

probably benign
Transcript: ENSMUST00000064793
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	457	N/A	INTRINSIC
low complexity region	699	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077046
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	7.4e-14	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105249
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.4e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	692	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105250
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105251
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.6e-12	PFAM
low complexity region	320	332	N/A	INTRINSIC
low complexity region	412	443	N/A	INTRINSIC
low complexity region	456	481	N/A	INTRINSIC
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111628

Predicted Effect

probably damaging
Transcript: ENSMUST00000164161
AA Change: G45D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168780
AA Change: G45D

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127872
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170336
AA Change: G45D

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

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	442	467	N/A	INTRINSIC
low complexity region	712	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164831
AA Change: G45D

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
low complexity region	306	318	N/A	INTRINSIC
low complexity region	398	429	N/A	INTRINSIC
low complexity region	678	709	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166820
AA Change: G45D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	109	132	N/A	INTRINSIC
R3H	152	229	1.26e-16	SMART
Pfam:SUZ	250	303	5.7e-12	PFAM
low complexity region	338	350	N/A	INTRINSIC
low complexity region	430	461	N/A	INTRINSIC
low complexity region	474	499	N/A	INTRINSIC
low complexity region	744	775	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171434
AA Change: G45D

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131255
Gene: ENSMUSG00000025404
AA Change: G45D

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170164

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	Het

Other mutations in R3hdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:R3hdm2	APN	10	127,294,719 (GRCm39)	missense	probably damaging	1.00
IGL02114:R3hdm2	APN	10	127,319,978 (GRCm39)	missense	probably damaging	0.99
IGL02116:R3hdm2	APN	10	127,334,421 (GRCm39)	missense	probably damaging	1.00
IGL02549:R3hdm2	APN	10	127,320,094 (GRCm39)	splice site	probably benign
IGL02647:R3hdm2	APN	10	127,295,353 (GRCm39)	missense	probably damaging	1.00
IGL02696:R3hdm2	APN	10	127,300,888 (GRCm39)	splice site	probably null
IGL02732:R3hdm2	APN	10	127,319,929 (GRCm39)	missense	probably benign	0.43
R0131:R3hdm2	UTSW	10	127,334,322 (GRCm39)	missense	probably damaging	1.00
R0131:R3hdm2	UTSW	10	127,334,322 (GRCm39)	missense	probably damaging	1.00
R0132:R3hdm2	UTSW	10	127,334,322 (GRCm39)	missense	probably damaging	1.00
R0157:R3hdm2	UTSW	10	127,307,858 (GRCm39)	missense	probably damaging	0.99
R0179:R3hdm2	UTSW	10	127,330,975 (GRCm39)	missense	probably damaging	1.00
R0196:R3hdm2	UTSW	10	127,320,390 (GRCm39)	missense	probably damaging	1.00
R0401:R3hdm2	UTSW	10	127,294,042 (GRCm39)	missense	possibly damaging	0.90
R0505:R3hdm2	UTSW	10	127,293,569 (GRCm39)	missense	probably damaging	1.00
R1188:R3hdm2	UTSW	10	127,288,624 (GRCm39)	missense	probably benign	0.02
R1466:R3hdm2	UTSW	10	127,312,559 (GRCm39)	missense	probably benign	0.01
R1466:R3hdm2	UTSW	10	127,312,559 (GRCm39)	missense	probably benign	0.01
R1503:R3hdm2	UTSW	10	127,307,695 (GRCm39)	nonsense	probably null
R1584:R3hdm2	UTSW	10	127,312,559 (GRCm39)	missense	probably benign	0.01
R1652:R3hdm2	UTSW	10	127,330,960 (GRCm39)	missense	probably benign	0.00
R1901:R3hdm2	UTSW	10	127,334,337 (GRCm39)	missense	possibly damaging	0.91
R3735:R3hdm2	UTSW	10	127,300,879 (GRCm39)	missense	probably benign
R5261:R3hdm2	UTSW	10	127,334,285 (GRCm39)	missense	probably damaging	1.00
R5329:R3hdm2	UTSW	10	127,294,762 (GRCm39)	missense	probably damaging	1.00
R5379:R3hdm2	UTSW	10	127,307,771 (GRCm39)	missense	probably damaging	1.00
R5380:R3hdm2	UTSW	10	127,321,316 (GRCm39)	missense	probably damaging	1.00
R5387:R3hdm2	UTSW	10	127,321,303 (GRCm39)	missense	probably damaging	1.00
R5558:R3hdm2	UTSW	10	127,280,271 (GRCm39)	missense	probably damaging	1.00
R5773:R3hdm2	UTSW	10	127,280,172 (GRCm39)	utr 5 prime	probably benign
R5936:R3hdm2	UTSW	10	127,307,681 (GRCm39)	missense	probably damaging	1.00
R6024:R3hdm2	UTSW	10	127,295,349 (GRCm39)	missense	probably damaging	1.00
R6160:R3hdm2	UTSW	10	127,320,376 (GRCm39)	missense	probably damaging	1.00
R6191:R3hdm2	UTSW	10	127,320,384 (GRCm39)	missense	probably damaging	1.00
R7058:R3hdm2	UTSW	10	127,320,382 (GRCm39)	missense	probably damaging	1.00
R7224:R3hdm2	UTSW	10	127,294,022 (GRCm39)	missense	probably damaging	1.00
R7253:R3hdm2	UTSW	10	127,317,644 (GRCm39)	missense	probably damaging	1.00
R7305:R3hdm2	UTSW	10	127,312,547 (GRCm39)	missense	probably benign	0.08
R7349:R3hdm2	UTSW	10	127,328,515 (GRCm39)	missense	probably benign
R7431:R3hdm2	UTSW	10	127,294,016 (GRCm39)	missense	probably benign	0.16
R7891:R3hdm2	UTSW	10	127,334,443 (GRCm39)	missense	probably benign	0.07
R8477:R3hdm2	UTSW	10	127,320,029 (GRCm39)	missense	probably damaging	1.00
R8503:R3hdm2	UTSW	10	127,328,481 (GRCm39)	missense	possibly damaging	0.95
R8782:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R8783:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R8784:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R8787:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R8789:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R8790:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R9041:R3hdm2	UTSW	10	127,320,405 (GRCm39)	missense	probably damaging	1.00
R9198:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R9200:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R9202:R3hdm2	UTSW	10	127,293,521 (GRCm39)	missense	probably damaging	1.00
R9706:R3hdm2	UTSW	10	127,334,298 (GRCm39)	missense	probably benign	0.01
R9760:R3hdm2	UTSW	10	127,280,182 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGCTGCTGTACCCTGCTGC -3'
(R):5'- GATGACTGACCTGACTTTTCTGCCTTT -3'

Sequencing Primer
(F):5'- TGCAGAACATGTCTAACAGTAAC -3'
(R):5'- tttcctccccaactgcttc -3'

Posted On

2013-07-11