Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:R3hdm2'

38233

Institutional Source

Beutler Lab

Gene Symbol

R3hdm2

Ensembl Gene

ENSMUSG00000025404

Gene Name

R3H domain containing 2

Synonyms

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127380327-127499384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127458173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 179 (I179V)

Ref Sequence

ENSEMBL: ENSMUSP00000131007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000165440] [ENSMUST00000166820] [ENSMUST00000169888] [ENSMUST00000170336]

AlphaFold

Q80TM6

Predicted Effect

probably benign
Transcript: ENSMUST00000064793
AA Change: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: I179V

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: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: I179V

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: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: I179V

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: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: I179V

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: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: I179V

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

noncoding transcript
Transcript: ENSMUST00000163794

Predicted Effect

probably benign
Transcript: ENSMUST00000164161

SMART Domains

Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164831
AA Change: I179V

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: I179V

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: ENSMUST00000165440

SMART Domains

Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
Pfam:SUZ	17	64	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166820
AA Change: I179V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: I179V

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

probably benign
Transcript: ENSMUST00000169888

SMART Domains

Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404

Domain	Start	End	E-Value	Type
Pfam:SUZ	7	54	4.7e-12	PFAM
low complexity region	71	83	N/A	INTRINSIC
low complexity region	163	194	N/A	INTRINSIC
low complexity region	443	474	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170336
AA Change: I179V

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: I179V

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

noncoding transcript
Transcript: ENSMUST00000171823

Meta Mutation Damage Score

0.1845

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306 (GRCm38)	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962 (GRCm38)	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494 (GRCm38)		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558 (GRCm38)	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116 (GRCm38)	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436 (GRCm38)	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058 (GRCm38)	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699 (GRCm38)	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009 (GRCm38)	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594 (GRCm38)	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986 (GRCm38)		probably benign	Het
Ccdc73	T	C	2: 104,991,289 (GRCm38)	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413 (GRCm38)	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006 (GRCm38)	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239 (GRCm38)	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479 (GRCm38)	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300 (GRCm38)	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789 (GRCm38)	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791 (GRCm38)		probably benign	Het
Cts6	T	C	13: 61,198,339 (GRCm38)		probably benign	Het
Cul9	T	C	17: 46,541,704 (GRCm38)	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951 (GRCm38)	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674 (GRCm38)	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031 (GRCm38)	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508 (GRCm38)		probably benign	Het
E2f5	T	C	3: 14,579,025 (GRCm38)		probably null	Het
Epc2	A	G	2: 49,528,974 (GRCm38)	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514 (GRCm38)	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343 (GRCm38)	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624 (GRCm38)	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628 (GRCm38)	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705 (GRCm38)	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093 (GRCm38)	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732 (GRCm38)	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382 (GRCm38)	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525 (GRCm38)		probably benign	Het
Lrp2	A	T	2: 69,479,148 (GRCm38)	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989 (GRCm38)	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208 (GRCm38)	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171 (GRCm38)		probably benign	Het
Mettl1	A	G	10: 127,045,077 (GRCm38)	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313 (GRCm38)	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894 (GRCm38)	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790 (GRCm38)	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897 (GRCm38)	P757S	probably benign	Het
Neb	G	A	2: 52,188,677 (GRCm38)		probably benign	Het
Ninj2	C	T	6: 120,198,051 (GRCm38)	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379 (GRCm38)		probably benign	Het
Nol9	T	C	4: 152,052,605 (GRCm38)	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158 (GRCm38)	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925 (GRCm38)	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404 (GRCm38)	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292 (GRCm38)	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872 (GRCm38)	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943 (GRCm38)	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916 (GRCm38)	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620 (GRCm38)	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136 (GRCm38)	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734 (GRCm38)	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209 (GRCm38)	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759 (GRCm38)	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135 (GRCm38)	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025 (GRCm38)	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225 (GRCm38)	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313 (GRCm38)	Y179C	probably damaging	Het
Ranbp9	A	C	13: 43,422,658 (GRCm38)	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632 (GRCm38)		probably benign	Het
Ryr2	A	T	13: 11,705,684 (GRCm38)	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285 (GRCm38)	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161 (GRCm38)	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289 (GRCm38)	E39*	probably null	Het
Skint7	T	A	4: 111,980,362 (GRCm38)	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	A	T	2: 62,190,848 (GRCm38)	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603 (GRCm38)		probably benign	Het
Tcam1	G	A	11: 106,284,078 (GRCm38)	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158 (GRCm38)	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365 (GRCm38)	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858 (GRCm38)	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213 (GRCm38)		probably benign	Het
Tiparp	A	G	3: 65,531,436 (GRCm38)	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264 (GRCm38)	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490 (GRCm38)	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711 (GRCm38)	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019 (GRCm38)	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145 (GRCm38)	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311 (GRCm38)	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161 (GRCm38)	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994 (GRCm38)	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575 (GRCm38)	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915 (GRCm38)	V115E	probably damaging	Het

Other mutations in R3hdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:R3hdm2	APN	10	127,458,850 (GRCm38)	missense	probably damaging	1.00
IGL02114:R3hdm2	APN	10	127,484,109 (GRCm38)	missense	probably damaging	0.99
IGL02116:R3hdm2	APN	10	127,498,552 (GRCm38)	missense	probably damaging	1.00
IGL02549:R3hdm2	APN	10	127,484,225 (GRCm38)	splice site	probably benign
IGL02647:R3hdm2	APN	10	127,459,484 (GRCm38)	missense	probably damaging	1.00
IGL02696:R3hdm2	APN	10	127,465,019 (GRCm38)	splice site	probably null
IGL02732:R3hdm2	APN	10	127,484,060 (GRCm38)	missense	probably benign	0.43
R0131:R3hdm2	UTSW	10	127,498,453 (GRCm38)	missense	probably damaging	1.00
R0131:R3hdm2	UTSW	10	127,498,453 (GRCm38)	missense	probably damaging	1.00
R0132:R3hdm2	UTSW	10	127,498,453 (GRCm38)	missense	probably damaging	1.00
R0157:R3hdm2	UTSW	10	127,471,989 (GRCm38)	missense	probably damaging	0.99
R0179:R3hdm2	UTSW	10	127,495,106 (GRCm38)	missense	probably damaging	1.00
R0196:R3hdm2	UTSW	10	127,484,521 (GRCm38)	missense	probably damaging	1.00
R0505:R3hdm2	UTSW	10	127,457,700 (GRCm38)	missense	probably damaging	1.00
R0606:R3hdm2	UTSW	10	127,444,444 (GRCm38)	missense	probably damaging	1.00
R1188:R3hdm2	UTSW	10	127,452,755 (GRCm38)	missense	probably benign	0.02
R1466:R3hdm2	UTSW	10	127,476,690 (GRCm38)	missense	probably benign	0.01
R1466:R3hdm2	UTSW	10	127,476,690 (GRCm38)	missense	probably benign	0.01
R1503:R3hdm2	UTSW	10	127,471,826 (GRCm38)	nonsense	probably null
R1584:R3hdm2	UTSW	10	127,476,690 (GRCm38)	missense	probably benign	0.01
R1652:R3hdm2	UTSW	10	127,495,091 (GRCm38)	missense	probably benign	0.00
R1901:R3hdm2	UTSW	10	127,498,468 (GRCm38)	missense	possibly damaging	0.91
R3735:R3hdm2	UTSW	10	127,465,010 (GRCm38)	missense	probably benign
R5261:R3hdm2	UTSW	10	127,498,416 (GRCm38)	missense	probably damaging	1.00
R5329:R3hdm2	UTSW	10	127,458,893 (GRCm38)	missense	probably damaging	1.00
R5379:R3hdm2	UTSW	10	127,471,902 (GRCm38)	missense	probably damaging	1.00
R5380:R3hdm2	UTSW	10	127,485,447 (GRCm38)	missense	probably damaging	1.00
R5387:R3hdm2	UTSW	10	127,485,434 (GRCm38)	missense	probably damaging	1.00
R5558:R3hdm2	UTSW	10	127,444,402 (GRCm38)	missense	probably damaging	1.00
R5773:R3hdm2	UTSW	10	127,444,303 (GRCm38)	utr 5 prime	probably benign
R5936:R3hdm2	UTSW	10	127,471,812 (GRCm38)	missense	probably damaging	1.00
R6024:R3hdm2	UTSW	10	127,459,480 (GRCm38)	missense	probably damaging	1.00
R6160:R3hdm2	UTSW	10	127,484,507 (GRCm38)	missense	probably damaging	1.00
R6191:R3hdm2	UTSW	10	127,484,515 (GRCm38)	missense	probably damaging	1.00
R7058:R3hdm2	UTSW	10	127,484,513 (GRCm38)	missense	probably damaging	1.00
R7224:R3hdm2	UTSW	10	127,458,153 (GRCm38)	missense	probably damaging	1.00
R7253:R3hdm2	UTSW	10	127,481,775 (GRCm38)	missense	probably damaging	1.00
R7305:R3hdm2	UTSW	10	127,476,678 (GRCm38)	missense	probably benign	0.08
R7349:R3hdm2	UTSW	10	127,492,646 (GRCm38)	missense	probably benign
R7431:R3hdm2	UTSW	10	127,458,147 (GRCm38)	missense	probably benign	0.16
R7891:R3hdm2	UTSW	10	127,498,574 (GRCm38)	missense	probably benign	0.07
R8477:R3hdm2	UTSW	10	127,484,160 (GRCm38)	missense	probably damaging	1.00
R8503:R3hdm2	UTSW	10	127,492,612 (GRCm38)	missense	possibly damaging	0.95
R8782:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R8783:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R8784:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R8787:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R8789:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R8790:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R9041:R3hdm2	UTSW	10	127,484,536 (GRCm38)	missense	probably damaging	1.00
R9198:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R9200:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R9202:R3hdm2	UTSW	10	127,457,652 (GRCm38)	missense	probably damaging	1.00
R9706:R3hdm2	UTSW	10	127,498,429 (GRCm38)	missense	probably benign	0.01
R9760:R3hdm2	UTSW	10	127,444,313 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCGTAATGCTTACGTGCTCACTG -3'
(R):5'- AGCCCCTAGCAACACTGCTTGTTC -3'

Sequencing Primer
(F):5'- GCTCACTGGTTAAAGTTCTACAGG -3'
(R):5'- caccagaagagggcatcag -3'

Posted On

2013-05-23