Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02487:Adal'

295493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adal

Ensembl Gene

ENSMUSG00000027259

Gene Name

adenosine deaminase-like

Synonyms

4930578F03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02487

Quality Score

Status

Chromosome

Chromosomal Location

120970909-120987161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120985877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 204 (T204I)

Ref Sequence

ENSEMBL: ENSMUSP00000106293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028702] [ENSMUST00000066155] [ENSMUST00000110661] [ENSMUST00000110662] [ENSMUST00000110665] [ENSMUST00000119031]

AlphaFold

Q80SY6

Predicted Effect

probably benign
Transcript: ENSMUST00000028702
AA Change: T244I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028702
Gene: ENSMUSG00000027259
AA Change: T244I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066155
AA Change: T311I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: T311I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110661

SMART Domains

Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619

Domain	Start	End	E-Value	Type
SCAN	13	125	5.83e-70	SMART
Pfam:Myb_DNA-bind_4	238	323	5.4e-21	PFAM
Pfam:Myb_DNA-bind_4	399	484	7.4e-22	PFAM
low complexity region	518	532	N/A	INTRINSIC
ZnF_C2H2	665	687	2.99e-4	SMART
ZnF_C2H2	693	715	2.75e-3	SMART
ZnF_C2H2	721	743	8.02e-5	SMART
ZnF_C2H2	749	771	1.13e-4	SMART
ZnF_C2H2	777	799	1.18e-2	SMART
ZnF_C2H2	805	827	1.33e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110662
AA Change: T168I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106290
Gene: ENSMUSG00000027259
AA Change: T168I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110665
AA Change: T204I

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106293
Gene: ENSMUSG00000027259
AA Change: T204I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119031
AA Change: T311I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113052
Gene: ENSMUSG00000027259
AA Change: T311I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156132

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	A	11: 54,227,769 (GRCm39)	I308N	possibly damaging	Het
Akirin1	A	G	4: 123,637,357 (GRCm39)	F76S	probably benign	Het
Arhgef5	A	T	6: 43,260,916 (GRCm39)	N1447I	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
B230217C12Rik	A	G	11: 97,733,054 (GRCm39)	N125S	probably benign	Het
Dcaf11	G	T	14: 55,806,571 (GRCm39)	K457N	probably benign	Het
Dnah10	G	A	5: 124,870,916 (GRCm39)	V2348M	possibly damaging	Het
Eif4g3	T	C	4: 137,930,689 (GRCm39)	V1665A	possibly damaging	Het
Fat4	A	T	3: 38,941,394 (GRCm39)	I96F	probably damaging	Het
Gm29253	T	C	1: 75,149,321 (GRCm39)		probably null	Het
Gvin-ps6	A	G	7: 106,022,471 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	A	17: 33,867,787 (GRCm39)	G676C	probably damaging	Het
Iah1	T	C	12: 21,371,440 (GRCm39)	M185T	probably damaging	Het
Klc1	A	T	12: 111,738,886 (GRCm39)	I45F	probably damaging	Het
Lce1h	G	A	3: 92,671,048 (GRCm39)	P35S	unknown	Het
Lrrc37a	T	C	11: 103,386,863 (GRCm39)	E2419G	unknown	Het
Lrrc8c	T	A	5: 105,754,457 (GRCm39)	S77R	probably benign	Het
Mcm3ap	T	A	10: 76,343,389 (GRCm39)		probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ntng1	A	T	3: 109,842,363 (GRCm39)	S137T	probably damaging	Het
Odf2	C	A	2: 29,810,851 (GRCm39)	A578E	possibly damaging	Het
Pecam1	G	A	11: 106,562,606 (GRCm39)	T698I	probably damaging	Het
Pex10	A	T	4: 155,155,190 (GRCm39)	H288L	probably damaging	Het
Pkhd1l1	T	C	15: 44,322,822 (GRCm39)	V36A	possibly damaging	Het
Podxl	T	C	6: 31,499,957 (GRCm39)	*504W	probably null	Het
Rab42	A	G	4: 132,029,614 (GRCm39)	S203P	probably benign	Het
Rsf1	T	C	7: 97,288,698 (GRCm39)	S192P	probably damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sost	C	A	11: 101,857,633 (GRCm39)	R56L	possibly damaging	Het
Speer4a3	T	A	5: 26,156,605 (GRCm39)	I125F	probably benign	Het
Spmip10	T	A	18: 56,727,571 (GRCm39)	W90R	possibly damaging	Het
Sptbn4	A	G	7: 27,118,522 (GRCm39)	V264A	probably damaging	Het
Stx3	A	G	19: 11,760,469 (GRCm39)	V236A	probably damaging	Het
Syt2	T	C	1: 134,668,603 (GRCm39)	F5S	probably damaging	Het
Thrap3	T	C	4: 126,060,794 (GRCm39)	D855G	possibly damaging	Het
Ticrr	T	C	7: 79,332,769 (GRCm39)	V874A	possibly damaging	Het
Tmem26	A	G	10: 68,614,563 (GRCm39)	E326G	probably benign	Het
Tsga13	A	T	6: 30,884,362 (GRCm39)	Y119N	probably damaging	Het
Tspoap1	C	T	11: 87,653,342 (GRCm39)	T136I	possibly damaging	Het
Ttc21b	T	C	2: 66,065,500 (GRCm39)	T425A	probably benign	Het
Ttc27	A	G	17: 75,163,549 (GRCm39)	Y719C	probably damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Vmn1r197	A	G	13: 22,512,792 (GRCm39)	M238V	probably damaging	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
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
R9446:Adal	UTSW	2	120,976,530 (GRCm39)	missense	probably null	0.99

Posted On

2015-04-16