Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Adat3'

602386

Institutional Source

Beutler Lab

Gene Symbol

Adat3

Ensembl Gene

ENSMUSG00000113640

Gene Name

adenosine deaminase, tRNA-specific 3

Synonyms

A430024H01Rik

MMRRC Submission

045884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80438714-80443488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80442654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 164 (L164P)

Ref Sequence

ENSEMBL: ENSMUSP00000152275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000221960] [ENSMUST00000221670] [ENSMUST00000221387] [ENSMUST00000223256]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038411
AA Change: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: L164P

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	170	308	5.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079883

SMART Domains

Protein: ENSMUSP00000078808
Gene: ENSMUSG00000113949

Domain	Start	End	E-Value	Type
Pfam:SCAMP	4	180	4.7e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178231
AA Change: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: L164P

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	170	308	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180350

SMART Domains

Protein: ENSMUSP00000137003
Gene: ENSMUSG00000113949

Domain	Start	End	E-Value	Type
Pfam:SCAMP	5	179	1.2e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218067
AA Change: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220669

Predicted Effect

probably benign
Transcript: ENSMUST00000221032

Predicted Effect

probably damaging
Transcript: ENSMUST00000221960
AA Change: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000221670

Predicted Effect

probably benign
Transcript: ENSMUST00000221387

Predicted Effect

probably benign
Transcript: ENSMUST00000223256

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Eif2ak2	C	T	17: 79,173,832 (GRCm39)	G249S	probably damaging	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lipc	T	C	9: 70,720,183 (GRCm39)	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Nxn	T	A	11: 76,164,819 (GRCm39)	I231F	probably damaging	Het
Or1j13	A	G	2: 36,369,392 (GRCm39)	L250P	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Rmc1	A	G	18: 12,301,928 (GRCm39)	N24S	probably benign	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	probably damaging	Het

Other mutations in Adat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Adat3	APN	10	80,442,693 (GRCm39)	missense	probably damaging	1.00
IGL01606:Adat3	APN	10	80,443,172 (GRCm39)	missense	probably damaging	0.96
IGL02164:Adat3	APN	10	80,442,461 (GRCm39)	missense	probably benign	0.40
R1892:Adat3	UTSW	10	80,442,249 (GRCm39)	missense	probably damaging	0.99
R4828:Adat3	UTSW	10	80,442,881 (GRCm39)	missense	probably benign	0.03
R5231:Adat3	UTSW	10	80,442,260 (GRCm39)	missense	possibly damaging	0.83
R6473:Adat3	UTSW	10	80,442,801 (GRCm39)	missense	probably damaging	1.00
R6879:Adat3	UTSW	10	80,442,621 (GRCm39)	missense	probably damaging	1.00
R7485:Adat3	UTSW	10	80,442,234 (GRCm39)	missense	probably benign	0.00
R7502:Adat3	UTSW	10	80,442,255 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTCATCGGATCTGCTGC -3'
(R):5'- GCTTCTGAGGTCACAGGAAC -3'

Sequencing Primer
(F):5'- CATCGGATCTGCTGCTGTGC -3'
(R):5'- AGGTCGATGCACACCATG -3'

Posted On

2019-12-03