Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:R3hdm1'

41998

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128112254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 390 (A390E)

Ref Sequence

ENSEMBL: ENSMUSP00000139749 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000036288
AA Change: A446E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: A446E

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

probably benign
Transcript: ENSMUST00000185853

Predicted Effect

probably benign
Transcript: ENSMUST00000187023
AA Change: A390E

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: A390E

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

probably benign
Transcript: ENSMUST00000187900
AA Change: A446E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: A446E

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: ENSMUST00000190056
AA Change: A137E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: A137E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	probably damaging	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128,164,176 (GRCm39)	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128,102,700 (GRCm39)	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128,163,369 (GRCm39)	splice site	probably benign
IGL00885:R3hdm1	APN	1	128,164,175 (GRCm39)	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128,089,933 (GRCm39)	intron	probably benign
IGL01137:R3hdm1	APN	1	128,109,612 (GRCm39)	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128,144,280 (GRCm39)	missense	probably benign
IGL01461:R3hdm1	APN	1	128,106,643 (GRCm39)	missense	probably damaging	1.00
IGL01565:R3hdm1	APN	1	128,114,553 (GRCm39)	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128,102,970 (GRCm39)	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128,114,497 (GRCm39)	nonsense	probably null
IGL01934:R3hdm1	APN	1	128,164,272 (GRCm39)	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128,096,775 (GRCm39)	missense	possibly damaging	0.48
IGL02532:R3hdm1	APN	1	128,124,836 (GRCm39)	critical splice donor site	probably null
IGL02606:R3hdm1	APN	1	128,118,456 (GRCm39)	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128,102,677 (GRCm39)	splice site	probably benign
driven	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128,138,929 (GRCm39)	splice site	probably benign
R0280:R3hdm1	UTSW	1	128,090,512 (GRCm39)	missense	probably benign	0.00
R0521:R3hdm1	UTSW	1	128,121,440 (GRCm39)	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128,159,174 (GRCm39)	nonsense	probably null
R0698:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128,121,333 (GRCm39)	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128,162,821 (GRCm39)	missense	probably damaging	1.00
R1991:R3hdm1	UTSW	1	128,096,753 (GRCm39)	missense	probably damaging	0.99
R2140:R3hdm1	UTSW	1	128,118,430 (GRCm39)	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128,114,573 (GRCm39)	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128,114,666 (GRCm39)	intron	probably benign
R4564:R3hdm1	UTSW	1	128,149,396 (GRCm39)	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128,102,975 (GRCm39)	splice site	probably benign
R4649:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128,164,503 (GRCm39)	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128,159,084 (GRCm39)	missense	probably benign
R5554:R3hdm1	UTSW	1	128,164,409 (GRCm39)	missense	probably benign	0.27
R5979:R3hdm1	UTSW	1	128,138,960 (GRCm39)	missense	probably benign	0.04
R6123:R3hdm1	UTSW	1	128,096,773 (GRCm39)	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128,079,598 (GRCm39)	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6639:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6756:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R7168:R3hdm1	UTSW	1	128,144,232 (GRCm39)	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128,138,945 (GRCm39)	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128,081,129 (GRCm39)	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128,109,948 (GRCm39)	splice site	probably null
R7896:R3hdm1	UTSW	1	128,096,703 (GRCm39)	splice site	probably null
R8391:R3hdm1	UTSW	1	128,121,215 (GRCm39)	missense
R8486:R3hdm1	UTSW	1	128,106,657 (GRCm39)	missense	probably benign	0.11
R8490:R3hdm1	UTSW	1	128,162,864 (GRCm39)	missense	probably benign	0.26
R8947:R3hdm1	UTSW	1	128,102,694 (GRCm39)	missense	possibly damaging	0.60
R8990:R3hdm1	UTSW	1	128,106,833 (GRCm39)	missense	probably damaging	1.00
R9141:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9195:R3hdm1	UTSW	1	128,089,975 (GRCm39)	missense	probably benign	0.28
R9426:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9469:R3hdm1	UTSW	1	128,106,921 (GRCm39)	critical splice donor site	probably null
X0017:R3hdm1	UTSW	1	128,095,658 (GRCm39)	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128,096,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCTTTGGCTATGATTTTCCTGACG -3'
(R):5'- GCTCTCTCGAAGGCAGTTGAGTATCTC -3'

Sequencing Primer
(F):5'- ATAGAAGCCATTGCTGTCATGTTG -3'
(R):5'- CTATACATCATAGATGGCACATGGG -3'

Posted On

2013-05-23