Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02739:Sdad1'

305820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92290072 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 539 (A539T)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031364] [ENSMUST00000201143]

Predicted Effect

probably benign
Transcript: ENSMUST00000031364
AA Change: A540T

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: A540T

Domain	Start	End	E-Value	Type
Pfam:NUC130_3NT	62	113	3.3e-28	PFAM
low complexity region	116	126	N/A	INTRINSIC
low complexity region	146	163	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC
low complexity region	254	278	N/A	INTRINSIC
Pfam:SDA1	409	532	2.4e-41	PFAM
Pfam:SDA1	519	685	2.8e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201084

Predicted Effect

probably benign
Transcript: ENSMUST00000201143
AA Change: A539T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: A539T

Domain	Start	End	E-Value	Type
Pfam:NUC130_3NT	62	113	5.3e-24	PFAM
low complexity region	116	126	N/A	INTRINSIC
low complexity region	146	163	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC
low complexity region	254	277	N/A	INTRINSIC
Pfam:SDA1	408	531	3.9e-37	PFAM
Pfam:SDA1	518	684	4.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202903

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055		probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	probably damaging	Het

Other mutations in Sdad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Sdad1	APN	5	92303773	splice site	probably null
IGL01355:Sdad1	APN	5	92302679	missense	probably damaging	1.00
IGL01635:Sdad1	APN	5	92297160	missense	probably damaging	0.98
IGL02166:Sdad1	APN	5	92291762	missense	probably benign	0.03
IGL02503:Sdad1	APN	5	92301802	unclassified	probably benign
PIT4468001:Sdad1	UTSW	5	92291918	missense	probably damaging	1.00
R0583:Sdad1	UTSW	5	92305064	missense	probably damaging	0.97
R1169:Sdad1	UTSW	5	92298233	missense	probably benign	0.32
R1496:Sdad1	UTSW	5	92309823	missense	possibly damaging	0.94
R1844:Sdad1	UTSW	5	92305296	nonsense	probably null
R1848:Sdad1	UTSW	5	92292651	critical splice donor site	probably null
R2419:Sdad1	UTSW	5	92305818	missense	possibly damaging	0.69
R2497:Sdad1	UTSW	5	92300099	missense	probably benign	0.00
R2509:Sdad1	UTSW	5	92305825	missense	probably benign	0.12
R4043:Sdad1	UTSW	5	92302694	missense	probably damaging	0.96
R4384:Sdad1	UTSW	5	92298257	missense	probably benign	0.01
R4477:Sdad1	UTSW	5	92297160	missense	probably damaging	0.98
R4478:Sdad1	UTSW	5	92297160	missense	probably damaging	0.98
R4734:Sdad1	UTSW	5	92304977	missense	possibly damaging	0.61
R4749:Sdad1	UTSW	5	92304977	missense	possibly damaging	0.61
R5135:Sdad1	UTSW	5	92303934	missense	probably benign	0.00
R5288:Sdad1	UTSW	5	92286825	makesense	probably null
R6331:Sdad1	UTSW	5	92303930	missense	probably damaging	1.00
R7038:Sdad1	UTSW	5	92298190	critical splice donor site	probably null
R7099:Sdad1	UTSW	5	92293973	missense	possibly damaging	0.89
R7420:Sdad1	UTSW	5	92305737	missense	possibly damaging	0.91
R7425:Sdad1	UTSW	5	92300121	missense	probably benign	0.10
R7714:Sdad1	UTSW	5	92302679	missense	probably damaging	1.00
R8048:Sdad1	UTSW	5	92300089	missense	probably benign	0.01
R8198:Sdad1	UTSW	5	92291952	missense	probably damaging	0.96
R8347:Sdad1	UTSW	5	92298229	missense	probably benign	0.00
R8693:Sdad1	UTSW	5	92304998	missense	probably benign	0.09
R8696:Sdad1	UTSW	5	92289786	missense	probably damaging	1.00
R8746:Sdad1	UTSW	5	92289925	missense	probably benign

Posted On

2015-04-16