Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Ada'

17235

Institutional Source

Beutler Lab

Gene Symbol

Ada

Ensembl Gene

ENSMUSG00000017697

Gene Name

adenosine deaminase

Synonyms

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

163568504-163592159 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 163569523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017841] [ENSMUST00000064703] [ENSMUST00000099105] [ENSMUST00000109400] [ENSMUST00000126182] [ENSMUST00000131228] [ENSMUST00000135537] [ENSMUST00000164399]

AlphaFold

P03958

Predicted Effect

unknown
Transcript: ENSMUST00000017841
AA Change: E339V

SMART Domains

Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: E339V

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	8	346	1.3e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064703

SMART Domains

Protein: ENSMUSP00000068344
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	70	5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099105

SMART Domains

Protein: ENSMUSP00000096704
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	75	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109400

SMART Domains

Protein: ENSMUSP00000105027
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	75	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126182

SMART Domains

Protein: ENSMUSP00000120145
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	75	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131228

SMART Domains

Protein: ENSMUSP00000120355
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	70	4.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135537

SMART Domains

Protein: ENSMUSP00000114291
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	56	7.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156939

Predicted Effect

probably benign
Transcript: ENSMUST00000164399

SMART Domains

Protein: ENSMUSP00000126223
Gene: ENSMUSG00000035268

Domain	Start	End	E-Value	Type
Pfam:PKI	2	75	1.3e-33	PFAM

Meta Mutation Damage Score

0.6898

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,972,908 (GRCm39)		probably benign	Het
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Arhgef38	T	A	3: 132,866,507 (GRCm39)	H210L	possibly damaging	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Cask	A	G	X: 13,544,513 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cd93	T	C	2: 148,284,056 (GRCm39)	D430G	probably benign	Het
Cds1	T	C	5: 101,965,706 (GRCm39)		probably benign	Het
Cerkl	A	T	2: 79,173,633 (GRCm39)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Cog8	T	C	8: 107,780,765 (GRCm39)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,454,117 (GRCm39)	Q1241*	probably null	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Gpat4	G	A	8: 23,680,721 (GRCm39)		probably benign	Het
Ifitm6	T	A	7: 140,595,920 (GRCm39)	R124S	possibly damaging	Het
Il17rd	T	A	14: 26,816,811 (GRCm39)	L172Q	probably damaging	Het
Il4	A	T	11: 53,504,741 (GRCm39)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,466,735 (GRCm39)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Mark1-ps1	T	A	17: 54,254,905 (GRCm39)		noncoding transcript	Het
Mndal	G	T	1: 173,702,013 (GRCm39)	C96*	probably null	Het
Mroh1	T	C	15: 76,335,340 (GRCm39)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,376,268 (GRCm39)		probably benign	Het
Mthfsd	C	A	8: 121,825,478 (GRCm39)	V270F	probably benign	Het
Nbas	T	A	12: 13,374,337 (GRCm39)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,611,412 (GRCm39)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,533,382 (GRCm39)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,075,614 (GRCm39)		probably benign	Het
Polr2b	T	A	5: 77,474,408 (GRCm39)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ptprd	T	C	4: 75,865,276 (GRCm39)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,544,381 (GRCm39)	V370A	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Slco2b1	A	T	7: 99,334,708 (GRCm39)	Y254*	probably null	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk10	A	G	11: 32,553,722 (GRCm39)	T580A	probably benign	Het
Tpo	C	T	12: 30,154,022 (GRCm39)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,735,603 (GRCm39)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Vmn2r84	A	G	10: 130,230,062 (GRCm39)	S17P	probably damaging	Het
Vps13d	A	T	4: 144,891,264 (GRCm39)		probably benign	Het
Zfp532	T	A	18: 65,818,698 (GRCm39)	S851R	probably benign	Het
Zfp623	G	A	15: 75,819,058 (GRCm39)	E5K	probably benign	Het

Other mutations in Ada

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Ada	APN	2	163,572,236 (GRCm39)	missense	probably benign	0.02
IGL02414:Ada	APN	2	163,571,960 (GRCm39)	missense	probably benign
IGL02973:Ada	APN	2	163,573,053 (GRCm39)	missense	probably benign	0.01
R0053:Ada	UTSW	2	163,574,212 (GRCm39)	missense	probably damaging	0.99
R0305:Ada	UTSW	2	163,570,077 (GRCm39)	missense	probably benign	0.00
R0463:Ada	UTSW	2	163,572,271 (GRCm39)	missense	probably benign	0.00
R0464:Ada	UTSW	2	163,574,884 (GRCm39)	nonsense	probably null
R0701:Ada	UTSW	2	163,571,995 (GRCm39)	missense	probably benign	0.30
R1474:Ada	UTSW	2	163,574,814 (GRCm39)	missense	possibly damaging	0.94
R4044:Ada	UTSW	2	163,577,380 (GRCm39)	missense	probably damaging	0.96
R4589:Ada	UTSW	2	163,574,868 (GRCm39)	missense	possibly damaging	0.94
R5114:Ada	UTSW	2	163,572,406 (GRCm39)	missense	probably benign	0.15
R5424:Ada	UTSW	2	163,570,045 (GRCm39)	nonsense	probably null
R5753:Ada	UTSW	2	163,577,318 (GRCm39)	missense	probably benign	0.00
R6392:Ada	UTSW	2	163,570,137 (GRCm39)	missense	probably damaging	1.00
R6501:Ada	UTSW	2	163,570,108 (GRCm39)	splice site	probably null
R6646:Ada	UTSW	2	163,577,343 (GRCm39)	missense	probably benign
R7651:Ada	UTSW	2	163,574,275 (GRCm39)	missense	probably damaging	0.98
R7669:Ada	UTSW	2	163,570,111 (GRCm39)	nonsense	probably null
R7803:Ada	UTSW	2	163,577,288 (GRCm39)	missense	probably benign	0.00
R9093:Ada	UTSW	2	163,577,308 (GRCm39)	missense	probably benign
R9469:Ada	UTSW	2	163,574,192 (GRCm39)	missense	probably benign	0.03
R9655:Ada	UTSW	2	163,574,270 (GRCm39)	missense	probably damaging	1.00
Z1088:Ada	UTSW	2	163,570,036 (GRCm39)	critical splice donor site	probably null

Posted On

2013-01-20