Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:R3hdm1'

225038

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128169016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 108 (D108E)

Ref Sequence

ENSEMBL: ENSMUSP00000140538 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036288
AA Change: D152E

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: D152E

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 damaging
Transcript: ENSMUST00000187023
AA Change: D96E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: D96E

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 benign
Transcript: ENSMUST00000187900
AA Change: D152E

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: D152E

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 damaging
Transcript: ENSMUST00000188381
AA Change: D108E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140538
Gene: ENSMUSG00000056211
AA Change: D108E

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
R3H	107	184	3.18e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189317
AA Change: D138E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140175
Gene: ENSMUSG00000056211
AA Change: D138E

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

0.1894

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,065,658 (GRCm38)	R203*	probably null	Het
Abcc2	A	T	19: 43,807,142 (GRCm38)	I446F	probably damaging	Het
Afap1l2	A	T	19: 57,002,267 (GRCm38)	I18N	possibly damaging	Het
Aida	A	T	1: 183,313,692 (GRCm38)	E107D	probably benign	Het
Amer2	A	G	14: 60,379,820 (GRCm38)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,187,328 (GRCm38)	S48P	probably benign	Het
Ano5	A	G	7: 51,537,813 (GRCm38)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816 (GRCm38)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,366,959 (GRCm38)	N466D	probably damaging	Het
Armc3	T	C	2: 19,293,142 (GRCm38)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,679,257 (GRCm38)	E523G	probably benign	Het
B3galt5	A	T	16: 96,316,025 (GRCm38)	K286M	probably damaging	Het
Bag3	C	T	7: 128,545,683 (GRCm38)	H341Y	probably benign	Het
Blm	G	T	7: 80,505,949 (GRCm38)		probably null	Het
Cacna1b	G	A	2: 24,732,306 (GRCm38)	P222L	probably damaging	Het
Cap2	T	A	13: 46,637,881 (GRCm38)	Y175N	possibly damaging	Het
Cd81	G	T	7: 143,067,201 (GRCm38)	G206*	probably null	Het
Cep290	T	A	10: 100,531,184 (GRCm38)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,659,529 (GRCm38)	C222*	probably null	Het
Col14a1	A	T	15: 55,449,940 (GRCm38)	D1320V	unknown	Het
Col18a1	T	C	10: 77,081,154 (GRCm38)	I114V	unknown	Het
Cped1	A	G	6: 22,233,927 (GRCm38)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,127,437 (GRCm38)	K288E	possibly damaging	Het
Cr2	G	A	1: 195,154,150 (GRCm38)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm38)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,571,964 (GRCm38)	K434M	probably damaging	Het
Dpp10	A	T	1: 123,905,106 (GRCm38)	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473 (GRCm38)	K836R	probably damaging	Het
Dst	A	G	1: 34,190,258 (GRCm38)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,530,256 (GRCm38)	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560 (GRCm38)	C611*	probably null	Het
Epop	T	C	11: 97,628,654 (GRCm38)	T210A	probably benign	Het
Erc2	A	G	14: 28,011,636 (GRCm38)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,771,646 (GRCm38)	N101I	probably benign	Het
Fhad1	T	C	4: 141,982,162 (GRCm38)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,583,656 (GRCm38)	D262G	probably damaging	Het
Gm9573	A	T	17: 35,618,708 (GRCm38)	S1529T	probably benign	Het
Gorab	A	G	1: 163,397,056 (GRCm38)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,306,563 (GRCm38)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,709,203 (GRCm38)	M270L	probably benign	Het
Grin3b	C	A	10: 79,970,912 (GRCm38)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,974,646 (GRCm38)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,801,899 (GRCm38)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237 (GRCm38)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,334,304 (GRCm38)	I155V	probably benign	Het
Hoga1	A	C	19: 42,060,020 (GRCm38)		probably null	Het
Hs3st5	A	G	10: 36,832,886 (GRCm38)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,255,811 (GRCm38)	A481S	probably benign	Het
Ints2	T	A	11: 86,248,934 (GRCm38)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,975,738 (GRCm38)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,866,732 (GRCm38)	V157D	probably damaging	Het
Klk1b26	A	T	7: 44,016,900 (GRCm38)	T256S	probably damaging	Het
Krt81	T	C	15: 101,462,554 (GRCm38)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,806,818 (GRCm38)	C20S	unknown	Het
Letm1	A	AG	5: 33,769,515 (GRCm38)		probably null	Het
Lin54	A	G	5: 100,485,801 (GRCm38)		probably null	Het
Lrrc37a	T	C	11: 103,500,261 (GRCm38)	E1446G	probably benign	Het
Macf1	A	G	4: 123,456,695 (GRCm38)	S3792P	probably damaging	Het
Manba	T	A	3: 135,551,191 (GRCm38)	D538E	probably benign	Het
Mcc	C	A	18: 44,491,315 (GRCm38)	E213*	probably null	Het
Mfap4	T	C	11: 61,485,807 (GRCm38)		probably null	Het
Nebl	T	A	2: 17,452,510 (GRCm38)	I80F	probably damaging	Het
Nek4	A	G	14: 30,956,953 (GRCm38)	I145V	probably damaging	Het
Nlrp14	T	C	7: 107,196,200 (GRCm38)	V230A	probably benign	Het
Nxf3	G	A	X: 136,075,834 (GRCm38)	P380S	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502 (GRCm38)	V172A	possibly damaging	Het
Olfr403	T	C	11: 74,196,163 (GRCm38)	V220A	probably damaging	Het
Olfr421-ps1	C	T	1: 174,152,121 (GRCm38)	H202Y	probably damaging	Het
Olfr490	C	A	7: 108,286,359 (GRCm38)	G256*	probably null	Het
Olfr745	G	A	14: 50,642,866 (GRCm38)	C195Y	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,859 (GRCm38)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,074,662 (GRCm38)	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494 (GRCm38)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,377,261 (GRCm38)	L188R	probably damaging	Het
Plce1	T	C	19: 38,777,924 (GRCm38)	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543 (GRCm38)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,363,102 (GRCm38)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,282,042 (GRCm38)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,247,912 (GRCm38)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,633,672 (GRCm38)	D203A	probably damaging	Het
Psg17	A	G	7: 18,814,652 (GRCm38)	V398A	probably benign	Het
Pum1	T	A	4: 130,718,218 (GRCm38)	I166K	possibly damaging	Het
Reln	A	T	5: 21,969,360 (GRCm38)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,452,426 (GRCm38)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,561,466 (GRCm38)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,389,699 (GRCm38)	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944 (GRCm38)	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836 (GRCm38)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339 (GRCm38)	F304L	probably benign	Het
Slpi	C	T	2: 164,355,543 (GRCm38)	C28Y	probably damaging	Het
Specc1	C	A	11: 62,029,294 (GRCm38)	P7T	possibly damaging	Het
Spib	T	C	7: 44,528,857 (GRCm38)	E180G	probably benign	Het
Spint5	T	C	2: 164,716,983 (GRCm38)		probably benign	Het
Ssr2	T	A	3: 88,576,867 (GRCm38)		probably benign	Het
Tbrg1	T	C	9: 37,649,419 (GRCm38)	D387G	probably benign	Het
Tex14	T	G	11: 87,549,470 (GRCm38)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,458,016 (GRCm38)		probably benign	Het
Tlr5	T	A	1: 182,974,347 (GRCm38)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,511,525 (GRCm38)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,671,904 (GRCm38)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,682,251 (GRCm38)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,890,624 (GRCm38)	M606K	probably benign	Het
Trim30a	T	A	7: 104,430,230 (GRCm38)		probably benign	Het
Trim46	A	T	3: 89,237,701 (GRCm38)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,796,284 (GRCm38)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm38)	I279T	probably benign	Het
Ttn	C	T	2: 76,946,391 (GRCm38)		probably null	Het
Txnl1	T	C	18: 63,679,514 (GRCm38)	T70A	probably benign	Het
Ush2a	C	T	1: 188,578,532 (GRCm38)		probably benign	Het
Usp1	A	G	4: 98,934,294 (GRCm38)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm38)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,024,868 (GRCm38)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,846,439 (GRCm38)	V448A	probably damaging	Het
Vps11	G	A	9: 44,359,227 (GRCm38)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468 (GRCm38)	T476A	possibly damaging	Het
Wdr63	G	T	3: 146,063,480 (GRCm38)	T522K	possibly damaging	Het
Whamm	C	T	7: 81,591,771 (GRCm38)	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884 (GRCm38)	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191 (GRCm38)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,336,517 (GRCm38)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,442,504 (GRCm38)	I354F	probably benign	Het
Zfr2	A	T	10: 81,242,852 (GRCm38)	D306V	possibly damaging	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128,236,439 (GRCm38)	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128,174,963 (GRCm38)	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128,235,632 (GRCm38)	splice site	probably benign
IGL00885:R3hdm1	APN	1	128,236,438 (GRCm38)	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128,162,196 (GRCm38)	intron	probably benign
IGL01137:R3hdm1	APN	1	128,181,875 (GRCm38)	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128,216,543 (GRCm38)	missense	probably benign
IGL01461:R3hdm1	APN	1	128,178,906 (GRCm38)	missense	probably damaging	1.00
IGL01565:R3hdm1	APN	1	128,186,816 (GRCm38)	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128,175,233 (GRCm38)	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128,186,760 (GRCm38)	nonsense	probably null
IGL01934:R3hdm1	APN	1	128,236,535 (GRCm38)	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128,169,038 (GRCm38)	missense	possibly damaging	0.48
IGL02532:R3hdm1	APN	1	128,197,099 (GRCm38)	critical splice donor site	probably null
IGL02606:R3hdm1	APN	1	128,190,719 (GRCm38)	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128,174,940 (GRCm38)	splice site	probably benign
driven	UTSW	1	128,193,565 (GRCm38)	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128,211,192 (GRCm38)	splice site	probably benign
R0280:R3hdm1	UTSW	1	128,162,775 (GRCm38)	missense	probably benign	0.00
R0482:R3hdm1	UTSW	1	128,184,517 (GRCm38)	missense	probably benign	0.12
R0521:R3hdm1	UTSW	1	128,193,703 (GRCm38)	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128,231,437 (GRCm38)	nonsense	probably null
R0698:R3hdm1	UTSW	1	128,181,739 (GRCm38)	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128,181,739 (GRCm38)	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128,193,596 (GRCm38)	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128,197,005 (GRCm38)	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128,231,405 (GRCm38)	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128,231,405 (GRCm38)	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128,231,405 (GRCm38)	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128,197,005 (GRCm38)	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128,235,084 (GRCm38)	missense	probably damaging	1.00
R2140:R3hdm1	UTSW	1	128,190,693 (GRCm38)	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128,186,836 (GRCm38)	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128,186,929 (GRCm38)	intron	probably benign
R4564:R3hdm1	UTSW	1	128,221,659 (GRCm38)	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128,175,238 (GRCm38)	splice site	probably benign
R4649:R3hdm1	UTSW	1	128,184,444 (GRCm38)	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128,184,444 (GRCm38)	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128,184,444 (GRCm38)	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128,184,444 (GRCm38)	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128,236,766 (GRCm38)	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128,231,347 (GRCm38)	missense	probably benign
R5554:R3hdm1	UTSW	1	128,236,672 (GRCm38)	missense	probably benign	0.27
R5979:R3hdm1	UTSW	1	128,211,223 (GRCm38)	missense	probably benign	0.04
R6123:R3hdm1	UTSW	1	128,169,036 (GRCm38)	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128,151,861 (GRCm38)	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128,193,565 (GRCm38)	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128,162,811 (GRCm38)	frame shift	probably null
R6639:R3hdm1	UTSW	1	128,162,811 (GRCm38)	frame shift	probably null
R6756:R3hdm1	UTSW	1	128,162,811 (GRCm38)	frame shift	probably null
R7168:R3hdm1	UTSW	1	128,216,495 (GRCm38)	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128,211,208 (GRCm38)	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128,153,392 (GRCm38)	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128,182,211 (GRCm38)	splice site	probably null
R7896:R3hdm1	UTSW	1	128,168,966 (GRCm38)	splice site	probably null
R8391:R3hdm1	UTSW	1	128,193,478 (GRCm38)	missense
R8486:R3hdm1	UTSW	1	128,178,920 (GRCm38)	missense	probably benign	0.11
R8490:R3hdm1	UTSW	1	128,235,127 (GRCm38)	missense	probably benign	0.26
R8947:R3hdm1	UTSW	1	128,174,957 (GRCm38)	missense	possibly damaging	0.60
R8990:R3hdm1	UTSW	1	128,179,096 (GRCm38)	missense	probably damaging	1.00
R9141:R3hdm1	UTSW	1	128,236,475 (GRCm38)	missense	probably damaging	1.00
R9195:R3hdm1	UTSW	1	128,162,238 (GRCm38)	missense	probably benign	0.28
R9426:R3hdm1	UTSW	1	128,236,475 (GRCm38)	missense	probably damaging	1.00
R9469:R3hdm1	UTSW	1	128,179,184 (GRCm38)	critical splice donor site	probably null
X0017:R3hdm1	UTSW	1	128,167,921 (GRCm38)	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128,169,033 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTTATAACAGCCCATGTC -3'
(R):5'- AGGTGAATTCCTATTCCTGAAAATGCC -3'

Sequencing Primer
(F):5'- AGTTGACAAATAGTGGTTATCTGTC -3'
(R):5'- GACAAATGTCTTAGTCCTAAAAACGG -3'

Posted On

2014-08-25