Mutagenetix > Incidental Mutation

Incidental Mutation 'R9446:Adal'

713930

Institutional Source

Beutler Lab

Gene Symbol

Adal

Ensembl Gene

ENSMUSG00000027259

Gene Name

adenosine deaminase-like

Synonyms

4930578F03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120970909-120987161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120976530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 90 (I90S)

Ref Sequence

ENSEMBL: ENSMUSP00000067133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028702] [ENSMUST00000066155] [ENSMUST00000066155] [ENSMUST00000110662] [ENSMUST00000110665] [ENSMUST00000119031]

AlphaFold

Q80SY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028702
AA Change: I23S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028702
Gene: ENSMUSG00000027259
AA Change: I23S

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	1	276	1.8e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066155
AA Change: I90S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: I90S

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	16	343	1.6e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066155
AA Change: I90S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: I90S

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	16	343	1.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110662

SMART Domains

Protein: ENSMUSP00000106290
Gene: ENSMUSG00000027259

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	2	200	1.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110665

SMART Domains

Protein: ENSMUSP00000106293
Gene: ENSMUSG00000027259

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	2	236	4.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119031
AA Change: I90S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113052
Gene: ENSMUSG00000027259
AA Change: I90S

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	16	343	3e-44	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	G	T	6: 39,551,221 (GRCm39)		probably benign	Het
Adgrf3	G	T	5: 30,401,957 (GRCm39)	D690E	probably benign	Het
Aff3	C	T	1: 38,574,337 (GRCm39)	G175S	probably benign	Het
Atf7	T	C	15: 102,459,923 (GRCm39)	H159R	probably damaging	Het
BB014433	GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,091,810 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,925,491 (GRCm39)	K2241R	probably damaging	Het
Cacna1s	A	G	1: 136,045,362 (GRCm39)	E1670G	probably benign	Het
Clca4b	C	T	3: 144,638,134 (GRCm39)	A43T	probably benign	Het
Clock	T	A	5: 76,396,288 (GRCm39)	I154L	probably benign	Het
Dnah10	A	T	5: 124,823,677 (GRCm39)	D566V	probably damaging	Het
Eml1	T	C	12: 108,481,465 (GRCm39)	W443R	probably damaging	Het
Ghitm	A	G	14: 36,853,606 (GRCm39)	I78T	possibly damaging	Het
Gm4181	A	T	14: 51,873,062 (GRCm39)	M1K	probably null	Het
Gm9195	T	C	14: 72,717,957 (GRCm39)	Y187C	probably damaging	Het
Htt	A	G	5: 34,919,272 (GRCm39)	M8V	probably benign	Het
Ighv1-9	T	C	12: 114,547,388 (GRCm39)	Y51C	probably benign	Het
Kif13b	G	A	14: 64,984,470 (GRCm39)	E636K	probably damaging	Het
Mamdc4	T	A	2: 25,453,645 (GRCm39)	M1179L	probably benign	Het
Map3k4	G	A	17: 12,451,375 (GRCm39)	A1506V	probably damaging	Het
Mbtd1	T	C	11: 93,834,508 (GRCm39)	S622P	unknown	Het
Med13l	T	A	5: 118,876,567 (GRCm39)	D914E	probably benign	Het
Mettl9	T	A	7: 120,675,531 (GRCm39)	D310E	possibly damaging	Het
Myh13	T	G	11: 67,255,325 (GRCm39)	V1565G	probably benign	Het
Nrf1	A	G	6: 30,090,019 (GRCm39)	T33A	probably damaging	Het
Oas1d	A	G	5: 121,054,947 (GRCm39)	K173R	probably benign	Het
Or12e10	A	T	2: 87,640,199 (GRCm39)	M12L	probably benign	Het
Or1e34	T	A	11: 73,778,530 (GRCm39)	T223S	probably benign	Het
Or4k6	A	G	14: 50,475,974 (GRCm39)	Y123H	probably damaging	Het
Or8g54	A	T	9: 39,707,342 (GRCm39)	S224C	probably damaging	Het
Pde6a	T	A	18: 61,419,067 (GRCm39)	D814E	probably benign	Het
Pilrb2	T	C	5: 137,869,429 (GRCm39)	D57G	possibly damaging	Het
Psg21	T	A	7: 18,388,865 (GRCm39)	T76S	probably benign	Het
Ralgapa1	A	G	12: 55,754,808 (GRCm39)	V1161A	probably damaging	Het
Rtl1	C	G	12: 109,556,604 (GRCm39)	*1745S	probably null	Het
Samd8	T	C	14: 21,833,769 (GRCm39)	C296R		Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfmbt1	T	C	14: 30,506,697 (GRCm39)	I247T	possibly damaging	Het
Smarca4	G	A	9: 21,547,155 (GRCm39)	A227T	unknown	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Trpm7	T	A	2: 126,672,185 (GRCm39)		probably null	Het
Wnt10a	C	A	1: 74,842,728 (GRCm39)	F401L	possibly damaging	Het
Zfp970	A	T	2: 177,167,064 (GRCm39)	K213*	probably null	Het

Other mutations in Adal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Adal	APN	2	120,981,699 (GRCm39)	splice site	probably benign
IGL01917:Adal	APN	2	120,973,035 (GRCm39)	missense	possibly damaging	0.88
IGL02487:Adal	APN	2	120,985,877 (GRCm39)	missense	probably benign	0.12
R0004:Adal	UTSW	2	120,982,966 (GRCm39)	missense	probably damaging	1.00
R0234:Adal	UTSW	2	120,978,798 (GRCm39)	missense	probably benign	0.01
R0234:Adal	UTSW	2	120,978,798 (GRCm39)	missense	probably benign	0.01
R1376:Adal	UTSW	2	120,983,011 (GRCm39)	missense	probably damaging	1.00
R1376:Adal	UTSW	2	120,983,011 (GRCm39)	missense	probably damaging	1.00
R4989:Adal	UTSW	2	120,986,030 (GRCm39)	utr 3 prime	probably benign
R6532:Adal	UTSW	2	120,976,604 (GRCm39)	splice site	probably null
R6606:Adal	UTSW	2	120,980,769 (GRCm39)	missense	probably damaging	1.00
R6750:Adal	UTSW	2	120,973,130 (GRCm39)	missense	probably damaging	1.00
R6819:Adal	UTSW	2	120,978,794 (GRCm39)	missense	probably damaging	0.99
R7035:Adal	UTSW	2	120,985,942 (GRCm39)	missense	probably benign	0.00
R8210:Adal	UTSW	2	120,985,236 (GRCm39)	missense	possibly damaging	0.91
R9373:Adal	UTSW	2	120,980,703 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCATGGAAACTGTTGTCAAACTG -3'
(R):5'- GATGGTCTTCCTCTGGTGCC -3'

Sequencing Primer
(F):5'- CTGACATAGTCTGTACTAGGAATGG -3'
(R):5'- CAGTGTTTCAAGACAGGGTTTCTC -3'

Posted On

2022-06-15