Mutagenetix > Incidental Mutation

Incidental Mutation 'R5854:Dalrd3'

454827

Institutional Source

Beutler Lab

Gene Symbol

Dalrd3

Ensembl Gene

ENSMUSG00000019039

Gene Name

DALR anticodon binding domain containing 3

Synonyms

6330580J24Rik

MMRRC Submission

043228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5854 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

108447085-108449973 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108447276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000193427] [ENSMUST00000194904] [ENSMUST00000194381] [ENSMUST00000195249]

AlphaFold

Q6PJN8

Predicted Effect

probably null
Transcript: ENSMUST00000019183

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

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

probably benign
Transcript: ENSMUST00000081111

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191897

Predicted Effect

probably benign
Transcript: ENSMUST00000193427

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

Predicted Effect

probably benign
Transcript: ENSMUST00000192518

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atg4c	G	A	4: 99,116,796 (GRCm39)	V313I	probably benign	Het
Ccdc18	A	G	5: 108,354,594 (GRCm39)	E1111G	possibly damaging	Het
Chuk	T	C	19: 44,070,396 (GRCm39)	H573R	probably benign	Het
Cst13	A	G	2: 148,670,094 (GRCm39)	N88S	probably benign	Het
Dnah8	T	A	17: 31,013,737 (GRCm39)	M3826K	possibly damaging	Het
Dsp	A	G	13: 38,351,477 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,452,076 (GRCm39)	L810P	probably damaging	Het
Fcrlb	T	C	1: 170,735,530 (GRCm39)	Y248C	probably damaging	Het
Gmcl1	A	G	6: 86,691,241 (GRCm39)		silent	Het
Gtf3c3	C	A	1: 54,458,596 (GRCm39)	A442S	probably benign	Het
Hdac4	T	C	1: 91,887,143 (GRCm39)	S799G	probably damaging	Het
Hnrnpa2b1	C	G	6: 51,443,589 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,495,508 (GRCm39)	E177G	probably damaging	Het
Knl1	A	G	2: 118,900,884 (GRCm39)	I862V	probably benign	Het
Lonp2	T	A	8: 87,399,699 (GRCm39)		probably null	Het
Map3k19	G	T	1: 127,758,092 (GRCm39)	P363T	probably damaging	Het
Morn3	A	G	5: 123,179,178 (GRCm39)	Y91H	probably damaging	Het
Myom2	A	G	8: 15,158,478 (GRCm39)	D810G	probably benign	Het
Nans	A	G	4: 46,500,180 (GRCm39)	Y188C	probably damaging	Het
Ndufs1	A	T	1: 63,186,548 (GRCm39)	D1E	probably benign	Het
Nelfb	T	C	2: 25,100,005 (GRCm39)	N204S	probably damaging	Het
Noxo1	T	C	17: 24,917,516 (GRCm39)	S31P	probably damaging	Het
Or13a20	A	G	7: 140,232,491 (GRCm39)	M200V	probably benign	Het
Or5af1	T	A	11: 58,722,382 (GRCm39)	M134K	probably damaging	Het
Or8b50	T	C	9: 38,517,959 (GRCm39)	L66S	probably damaging	Het
Pkd1l2	T	G	8: 117,792,485 (GRCm39)	T436P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,445,186 (GRCm39)	D3686G	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,974 (GRCm39)	L285S	probably damaging	Het
Pzp	A	T	6: 128,483,832 (GRCm39)	V522D	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rpe65	A	G	3: 159,321,313 (GRCm39)	D375G	probably benign	Het
Sacs	C	T	14: 61,448,996 (GRCm39)	L3681F	probably damaging	Het
Sft2d1	C	T	17: 8,539,485 (GRCm39)	T96I	probably damaging	Het
Slc12a7	A	G	13: 73,942,059 (GRCm39)	N312D	probably benign	Het
Spaca6	A	T	17: 18,051,509 (GRCm39)	K82*	probably null	Het
Stk32c	A	G	7: 138,768,195 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,193,646 (GRCm39)	N263Y	probably damaging	Het
Uxs1	T	C	1: 43,819,233 (GRCm39)	N190S	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
R4552:Dalrd3	UTSW	9	108,449,429 (GRCm39)	missense	possibly damaging	0.67
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
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'- AAGCTCTACGGATAACTTACTTCCTG -3'
(R):5'- ACATGTTCGAAGACAGCGGG -3'

Sequencing Primer
(F):5'- TAGTCTTCCGGTCGCCATGG -3'
(R):5'- GCCGCTGTAGTTGGAGC -3'

Posted On

2017-02-10