Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Dalrd3'

220458

Institutional Source

Beutler Lab

Gene Symbol

Dalrd3

Ensembl Gene

ENSMUSG00000019039

Gene Name

DALR anticodon binding domain containing 3

Synonyms

6330580J24Rik

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108569886-108572774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108571085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 278 (I278T)

Ref Sequence

ENSEMBL: ENSMUSP00000019183 (fasta)

Gene Model

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

AlphaFold

Q6PJN8

Predicted Effect

probably benign
Transcript: ENSMUST00000019183
AA Change: I278T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: I278T

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

probably benign
Transcript: ENSMUST00000192518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193242

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	C	2: 148,782,228 (GRCm38)	F41L	probably damaging	Het
Abcc4	T	C	14: 118,553,325 (GRCm38)	M757V	probably benign	Het
Acan	T	G	7: 79,101,222 (GRCm38)	S1914A	probably benign	Het
Axin2	T	A	11: 108,943,078 (GRCm38)	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,055,811 (GRCm38)	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173 (GRCm38)		probably null	Het
Ccdc34	A	G	2: 110,032,386 (GRCm38)	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,504,899 (GRCm38)	T208A	probably damaging	Het
Crabp1	C	T	9: 54,768,468 (GRCm38)	R112*	probably null	Het
D130040H23Rik	A	G	8: 69,302,873 (GRCm38)	N310S	probably benign	Het
Dbp	C	A	7: 45,708,276 (GRCm38)	D89E	probably benign	Het
Dennd2c	A	G	3: 103,131,689 (GRCm38)	D51G	possibly damaging	Het
Dido1	A	T	2: 180,689,181 (GRCm38)	L158*	probably null	Het
Disp1	G	T	1: 183,088,203 (GRCm38)	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,683,585 (GRCm38)	D193G	probably damaging	Het
Dnah8	A	G	17: 30,731,159 (GRCm38)	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,902,753 (GRCm38)	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,466,636 (GRCm38)	Q770*	probably null	Het
Efemp1	A	T	11: 28,914,696 (GRCm38)	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,830,195 (GRCm38)	I1249N	probably benign	Het
F5	A	G	1: 164,209,475 (GRCm38)	K1928E	probably benign	Het
Fam160a2	A	G	7: 105,388,936 (GRCm38)	V260A	probably damaging	Het
Fam206a	T	A	4: 56,805,916 (GRCm38)	I138N	probably damaging	Het
Gdf11	T	A	10: 128,891,445 (GRCm38)	I81F	probably damaging	Het
Gm10518	T	A	1: 179,803,918 (GRCm38)		probably benign	Het
Gm14685	G	T	X: 73,127,655 (GRCm38)	G218C	probably damaging	Het
Grb10	G	C	11: 11,970,576 (GRCm38)	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221 (GRCm38)	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,363,934 (GRCm38)	E789G	probably damaging	Het
Hook3	T	C	8: 26,038,098 (GRCm38)	E588G	probably damaging	Het
Hpx	A	G	7: 105,595,104 (GRCm38)	S266P	probably damaging	Het
Hs6st3	A	G	14: 119,869,389 (GRCm38)	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,974,170 (GRCm38)	V151A	possibly damaging	Het
Itga11	C	T	9: 62,762,811 (GRCm38)	T739I	probably damaging	Het
Kalrn	T	C	16: 34,189,736 (GRCm38)	I702V	probably damaging	Het
Kif2b	C	T	11: 91,577,346 (GRCm38)	S37N	probably damaging	Het
Kng2	T	A	16: 23,000,575 (GRCm38)	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,671,285 (GRCm38)	V124L	possibly damaging	Het
Lig4	A	T	8: 9,972,436 (GRCm38)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918 (GRCm38)	A4821T	probably damaging	Het
Msh5	T	A	17: 35,032,792 (GRCm38)	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892 (GRCm38)	Y339H	probably damaging	Het
Nin	T	A	12: 70,030,008 (GRCm38)	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,446,851 (GRCm38)	D729A	probably damaging	Het
Olfr671	C	A	7: 104,975,244 (GRCm38)	G247V	probably benign	Het
P2ry14	A	T	3: 59,115,445 (GRCm38)	V207E	probably damaging	Het
Pdss2	A	T	10: 43,393,875 (GRCm38)	N238I	possibly damaging	Het
Pkn1	A	G	8: 83,671,378 (GRCm38)	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,286,764 (GRCm38)	L804R	probably damaging	Het
Poglut1	A	T	16: 38,537,905 (GRCm38)		probably null	Het
Prkcz	A	T	4: 155,289,710 (GRCm38)	V83D	probably damaging	Het
Prss50	T	C	9: 110,861,260 (GRCm38)	F157S	probably benign	Het
Psors1c2	A	G	17: 35,534,202 (GRCm38)		probably benign	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab7	G	A	6: 88,004,179 (GRCm38)	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,242,739 (GRCm38)	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,245,309 (GRCm38)	V503L	probably damaging	Het
Sbf1	T	A	15: 89,302,730 (GRCm38)	E815V	probably damaging	Het
Setd3	T	A	12: 108,160,267 (GRCm38)	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,398,410 (GRCm38)	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,398,411 (GRCm38)	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,032,845 (GRCm38)	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,649,112 (GRCm38)	S166C	probably damaging	Het
Stard9	T	A	2: 120,702,398 (GRCm38)	D3045E	probably benign	Het
Stk4	C	A	2: 164,096,831 (GRCm38)	D206E	probably damaging	Het
Syn3	T	C	10: 86,466,982 (GRCm38)	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,279,146 (GRCm38)	Y369F	probably benign	Het
Tenm2	G	T	11: 36,047,264 (GRCm38)	Y1527*	probably null	Het
Tfg	T	C	16: 56,705,625 (GRCm38)	K85R	possibly damaging	Het
Timp3	T	C	10: 86,300,885 (GRCm38)	L11P	probably damaging	Het
Tmem144	A	T	3: 79,827,711 (GRCm38)		probably null	Het
Tmtc4	T	C	14: 122,921,265 (GRCm38)	N682S	probably benign	Het
Tnks2	C	T	19: 36,866,066 (GRCm38)	L464F	probably damaging	Het
Trank1	T	C	9: 111,392,039 (GRCm38)	F2615L	probably benign	Het
Trio	T	C	15: 27,744,137 (GRCm38)	K2570E	probably damaging	Het
Trio	T	A	15: 27,773,927 (GRCm38)	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,465,631 (GRCm38)	C87S	probably benign	Het
Unc13a	C	T	8: 71,639,768 (GRCm38)	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,018,948 (GRCm38)	H404Y	probably damaging	Het
Zfp280b	T	C	10: 76,038,494 (GRCm38)	L69S	probably damaging	Het
Zfp346	T	C	13: 55,132,308 (GRCm38)	S282P	probably damaging	Het
Zfp579	C	A	7: 4,993,521 (GRCm38)	E464*	probably null	Het
Zfp78	T	A	7: 6,375,514 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,269,366 (GRCm38)	E186G	probably damaging	Het

Other mutations in Dalrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02441:Dalrd3	APN	9	108,571,526 (GRCm38)	unclassified	probably benign
IGL02699:Dalrd3	APN	9	108,570,889 (GRCm38)	splice site	probably benign
IGL02701:Dalrd3	APN	9	108,572,284 (GRCm38)	missense	possibly damaging	0.95
R0051:Dalrd3	UTSW	9	108,572,215 (GRCm38)	missense	possibly damaging	0.89
R0051:Dalrd3	UTSW	9	108,572,215 (GRCm38)	missense	possibly damaging	0.89
R4425:Dalrd3	UTSW	9	108,571,601 (GRCm38)	unclassified	probably benign
R4552:Dalrd3	UTSW	9	108,572,230 (GRCm38)	missense	possibly damaging	0.67
R4660:Dalrd3	UTSW	9	108,570,369 (GRCm38)	missense	probably benign
R4876:Dalrd3	UTSW	9	108,571,436 (GRCm38)	splice site	probably benign
R5642:Dalrd3	UTSW	9	108,572,290 (GRCm38)	missense	probably damaging	1.00
R5854:Dalrd3	UTSW	9	108,570,077 (GRCm38)	critical splice donor site	probably null
R6342:Dalrd3	UTSW	9	108,571,123 (GRCm38)	nonsense	probably null
R9004:Dalrd3	UTSW	9	108,572,231 (GRCm38)	missense	probably benign	0.00
R9381:Dalrd3	UTSW	9	108,571,043 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGCACTTCAACACCTCTTG -3'
(R):5'- TTGCACTTGTAGCACGGGTG -3'

Sequencing Primer
(F):5'- AGTGACTGAAGATGTGCTCTC -3'
(R):5'- GGTGCCTATGGTCACATCAGTC -3'

Posted On

2014-08-25