Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:Dalrd3'

334021

Institutional Source

Beutler Lab

Gene Symbol

Dalrd3

Ensembl Gene

ENSMUSG00000019039

Gene Name

DALR anticodon binding domain containing 3

Synonyms

6330580J24Rik

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108447085-108449973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108449429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 454 (D454G)

Ref Sequence

ENSEMBL: ENSMUSP00000019183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000074208] [ENSMUST00000193427] [ENSMUST00000195249]

AlphaFold

Q6PJN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019183
AA Change: D454G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: D454G

Domain	Start	End	E-Value	Type
low complexity region	288	301	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
DALR_1	399	538	2.09e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068700

SMART Domains

Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

Domain	Start	End	E-Value	Type
Blast:WD40	109	142	3e-6	BLAST
WD40	198	237	1.42e-4	SMART
WD40	247	284	7.28e-2	SMART
WD40	286	326	1.72e-3	SMART
Blast:WD40	336	375	3e-13	BLAST
WD40	479	519	2.96e1	SMART
low complexity region	537	552	N/A	INTRINSIC
WD40	559	598	1.77e2	SMART
Blast:WD40	600	641	7e-20	BLAST
Blast:WD40	764	815	2e-22	BLAST
Blast:WD40	855	896	2e-11	BLAST
WD40	900	949	1.48e1	SMART
WD40	973	1015	5.52e-2	SMART
WD40	1035	1076	3.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074208

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

Domain	Start	End	E-Value	Type
Pfam:DUF498	61	169	9.3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191897

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193427
AA Change: D125G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039
AA Change: D125G

Domain	Start	End	E-Value	Type
low complexity region	55	66	N/A	INTRINSIC
DALR_1	68	171	1.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

probably benign
Transcript: ENSMUST00000192518

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Meta Mutation Damage Score

0.4050

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Noct	T	A	3: 51,157,589 (GRCm39)	I309N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or2y1e	A	T	11: 49,218,777 (GRCm39)	M180L	probably benign	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	Het

Other mutations in Dalrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02441:Dalrd3	APN	9	108,448,725 (GRCm39)	unclassified	probably benign
IGL02699:Dalrd3	APN	9	108,448,088 (GRCm39)	splice site	probably benign
IGL02701:Dalrd3	APN	9	108,449,483 (GRCm39)	missense	possibly damaging	0.95
R0051:Dalrd3	UTSW	9	108,449,414 (GRCm39)	missense	possibly damaging	0.89
R0051:Dalrd3	UTSW	9	108,449,414 (GRCm39)	missense	possibly damaging	0.89
R2025:Dalrd3	UTSW	9	108,448,284 (GRCm39)	missense	probably benign	0.08
R4425:Dalrd3	UTSW	9	108,448,800 (GRCm39)	unclassified	probably benign
R4660:Dalrd3	UTSW	9	108,447,568 (GRCm39)	missense	probably benign
R4876:Dalrd3	UTSW	9	108,448,635 (GRCm39)	splice site	probably benign
R5642:Dalrd3	UTSW	9	108,449,489 (GRCm39)	missense	probably damaging	1.00
R5854:Dalrd3	UTSW	9	108,447,276 (GRCm39)	critical splice donor site	probably null
R6342:Dalrd3	UTSW	9	108,448,322 (GRCm39)	nonsense	probably null
R9004:Dalrd3	UTSW	9	108,449,430 (GRCm39)	missense	probably benign	0.00
R9381:Dalrd3	UTSW	9	108,448,242 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTCGAGGGCTACAAACATGG -3'
(R):5'- AATCCATGCTGAGCTGCACC -3'

Sequencing Primer
(F):5'- AACGGAGCAAGGTCTGTATCCC -3'
(R):5'- TGAGCTGCACCAGGAACTTG -3'

Posted On

2015-08-18