Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01635:Sdad1'

92965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01635

Quality Score

Status

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92297160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 315 (M315T)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031364
AA Change: M316T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: M316T

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 damaging
Transcript: ENSMUST00000201143
AA Change: M315T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: M315T

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: ENSMUST00000202604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202903

Meta Mutation Damage Score

0.4888

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	T	C	19: 23,559,015	Y176C	probably damaging	Het
Abat	A	G	16: 8,614,046	I396V	probably benign	Het
Bag2	T	A	1: 33,746,932	N103I	possibly damaging	Het
Chd1	T	C	17: 17,378,596	S107P	probably damaging	Het
Chd3	A	T	11: 69,361,250		probably benign	Het
Cytip	T	C	2: 58,148,231	E106G	probably damaging	Het
Dcp1b	T	A	6: 119,206,537	I195N	probably damaging	Het
Ddhd1	C	A	14: 45,629,580	V322F	probably null	Het
Esrrg	A	T	1: 188,198,600	D296V	probably damaging	Het
F5	A	G	1: 164,207,858	K1867R	probably benign	Het
Gm10717	C	A	9: 3,025,506	F30L	possibly damaging	Het
Gm10717	C	A	9: 3,025,511	A32D	probably damaging	Het
Gm3550	A	T	18: 34,737,742	M110L	probably benign	Het
Gstt1	G	T	10: 75,794,117	T54K	probably damaging	Het
Ighmbp2	C	T	19: 3,267,265	V536I	possibly damaging	Het
Mphosph8	A	T	14: 56,672,546	R119W	probably damaging	Het
Negr1	A	G	3: 156,562,292	D33G	probably benign	Het
Olfr168	A	G	16: 19,530,095	V275A	probably benign	Het
Olfr77	A	T	9: 19,920,484	I92L	probably damaging	Het
Plbd2	T	C	5: 120,499,049	D116G	probably damaging	Het
Pold1	A	T	7: 44,535,977	V733E	probably damaging	Het
Prorsd1	T	A	11: 29,513,467	K98N	probably benign	Het
Rasal2	G	T	1: 157,163,824	L611I	probably damaging	Het
Rffl	G	A	11: 82,812,552	R147C	probably benign	Het
Shprh	T	A	10: 11,170,019	Y861*	probably null	Het
Six4	G	A	12: 73,109,197	A324V	probably benign	Het
Stab2	T	C	10: 86,981,128	D135G	probably benign	Het
Tada3	T	C	6: 113,376,012	H12R	probably benign	Het
Zap70	A	G	1: 36,771,157	D116G	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
IGL02166:Sdad1	APN	5	92291762	missense	probably benign	0.03
IGL02503:Sdad1	APN	5	92301802	unclassified	probably benign
IGL02739:Sdad1	APN	5	92290072	missense	probably benign	0.43
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
R9004:Sdad1	UTSW	5	92291961	missense	probably benign	0.00
R9166:Sdad1	UTSW	5	92298221	nonsense	probably null
R9732:Sdad1	UTSW	5	92291083	missense	probably benign	0.00

Posted On

2013-12-09