Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Dalrd3'

192638

Institutional Source

Beutler Lab

Gene Symbol

Dalrd3

Ensembl Gene

ENSMUSG00000019039

Gene Name

DALR anticodon binding domain containing 3

Synonyms

6330580J24Rik

MMRRC Submission

038345-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108447085-108449973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108449414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000141748 (fasta)

Gene Model

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

AlphaFold

Q6PJN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019183
AA Change: V449A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: V449A

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: V120A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039
AA Change: V120A

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: ENSMUST00000196210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

probably benign
Transcript: ENSMUST00000192518

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,278,526 (GRCm39)		noncoding transcript	Het
Abr	T	A	11: 76,363,328 (GRCm39)	Q163L	probably benign	Het
Ankrd11	C	A	8: 123,616,481 (GRCm39)	C2457F	probably damaging	Het
Anks3	G	C	16: 4,765,613 (GRCm39)	T163S	probably benign	Het
Cacna1d	G	A	14: 29,833,052 (GRCm39)	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,521,902 (GRCm39)	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,613,524 (GRCm39)	A348E	probably damaging	Het
Cfap46	A	G	7: 139,255,951 (GRCm39)	C300R	probably damaging	Het
Cimap1a	C	A	7: 140,430,134 (GRCm39)		probably benign	Het
Coq2	T	C	5: 100,811,551 (GRCm39)	N146S	probably benign	Het
Dcp2	T	A	18: 44,538,441 (GRCm39)		probably benign	Het
Ddx39a	A	G	8: 84,447,251 (GRCm39)	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,274,890 (GRCm39)		probably null	Het
Dmbt1	G	T	7: 130,721,225 (GRCm39)	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,560,245 (GRCm39)		probably benign	Het
Dpp7	A	G	2: 25,246,107 (GRCm39)	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,477,957 (GRCm39)	S317G	probably benign	Het
Ecpas	A	G	4: 58,832,729 (GRCm39)	L877S	probably damaging	Het
Ecsit	C	T	9: 21,987,584 (GRCm39)	V152I	probably benign	Het
Eeig1	G	A	2: 32,448,065 (GRCm39)	R58Q	possibly damaging	Het
Emc1	T	A	4: 139,102,474 (GRCm39)	M923K	possibly damaging	Het
Fcrl6	A	T	1: 172,426,320 (GRCm39)	L159Q	probably benign	Het
Frrs1	T	C	3: 116,678,946 (GRCm39)		probably benign	Het
Hspd1	A	G	1: 55,121,205 (GRCm39)		probably benign	Het
Impg2	T	A	16: 56,078,411 (GRCm39)	S458T	probably damaging	Het
Klf17	T	C	4: 117,617,589 (GRCm39)	Y256C	probably damaging	Het
Lnx2	A	G	5: 146,966,163 (GRCm39)	F319L	probably damaging	Het
Mafg	G	T	11: 120,520,430 (GRCm39)	R57S	probably damaging	Het
Med13l	T	A	5: 118,880,720 (GRCm39)	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,096,962 (GRCm39)	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Naip1	T	C	13: 100,547,509 (GRCm39)	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,253,867 (GRCm39)	S320P	probably damaging	Het
Nek11	A	G	9: 105,095,738 (GRCm39)		probably benign	Het
Nlrp2	A	T	7: 5,325,333 (GRCm39)		probably benign	Het
Rbm26	A	C	14: 105,389,976 (GRCm39)	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,692,338 (GRCm39)	D178G	probably damaging	Het
Rtel1	C	T	2: 180,992,449 (GRCm39)	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,990,400 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,699,420 (GRCm39)	D890G	probably damaging	Het
Scarb1	C	A	5: 125,358,164 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,593,156 (GRCm39)		probably benign	Het
Slc12a5	T	A	2: 164,828,583 (GRCm39)	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,453,676 (GRCm39)	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,722,056 (GRCm39)	F440L	probably damaging	Het
Stac3	G	A	10: 127,344,017 (GRCm39)	R305H	probably damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Syna	A	T	5: 134,588,397 (GRCm39)	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,494,302 (GRCm39)	N401S	probably damaging	Het
Tut4	T	G	4: 108,384,201 (GRCm39)	S1089R	probably damaging	Het
Yeats2	T	A	16: 20,012,474 (GRCm39)	Y557*	probably null	Het
Zfp352	T	C	4: 90,112,522 (GRCm39)	S221P	probably damaging	Het
Zfp575	A	G	7: 24,285,512 (GRCm39)	V43A	probably benign	Het
Zfp775	A	G	6: 48,597,706 (GRCm39)	T527A	probably benign	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
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
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'- ATGTATAACTGTGCCCGCCTTGCC -3'
(R):5'- TGAAATCCATGCTGAGCTGCACC -3'

Sequencing Primer
(F):5'- TTCGAGGGCTACAAACATGG -3'
(R):5'- TTGCATACCTAGAGACAGACGTTG -3'

Posted On

2014-05-20