Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Sdad1'

282706

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 #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92291762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 433 (T433I)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031364
AA Change: T434I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: T434I

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: T433I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: T433I

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,453	H96R	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cdh8	T	C	8: 99,190,451	D344G	probably damaging	Het
Cltc	T	C	11: 86,704,088	I1399V	probably benign	Het
Col4a1	A	T	8: 11,244,509		probably benign	Het
Crtc3	C	T	7: 80,677,399	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,683,701	V701M	probably damaging	Het
Eif3b	T	A	5: 140,439,950	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,220,749	R417Q	probably damaging	Het
Fpr3	T	C	17: 17,970,464		probably benign	Het
Hpdl	A	G	4: 116,820,952	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,208,220	S76G	probably benign	Het
Ikbip	T	C	10: 91,095,790	S99P	probably damaging	Het
Lnpk	T	C	2: 74,529,717	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,607,291	T803M	probably damaging	Het
Narfl	A	G	17: 25,780,320	D236G	possibly damaging	Het
Nxf2	C	A	X: 134,957,129	W89L	possibly damaging	Het
Olfr1176	A	T	2: 88,339,678	I38F	probably damaging	Het
Olfr1381	A	G	11: 49,551,930	Y61C	probably damaging	Het
Olfr803	T	A	10: 129,691,913	I43F	probably benign	Het
Osbp2	A	T	11: 3,717,983	C5S	probably damaging	Het
Ovol2	T	C	2: 144,305,730	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 65,813,492	D207G	probably benign	Het
Prdm11	C	T	2: 93,012,863	V84M	probably damaging	Het
Rspo3	T	A	10: 29,535,279	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,803,756	N357D	probably damaging	Het
Scn9a	A	T	2: 66,493,103	D1447E	possibly damaging	Het
Seh1l	A	G	18: 67,785,023	N149S	probably damaging	Het
Sigirr	T	C	7: 141,092,227	I268M	probably benign	Het
Slc35d2	A	G	13: 64,098,348	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,354,333	M596K	probably damaging	Het
Spta1	G	A	1: 174,190,231	E494K	probably damaging	Het
Stk32b	C	A	5: 37,499,030		probably benign	Het
Tex13b	T	C	X: 140,812,726	E122G	probably damaging	Het
Tmem35a	A	G	X: 134,304,608	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 53,946,611	D100G	probably benign	Het
Tshz3	T	C	7: 36,768,921	S112P	probably benign	Het
Tssc4	T	C	7: 143,070,201	M82T	probably benign	Het
Ttn	A	G	2: 76,732,379	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vim	T	C	2: 13,574,594	S55P	probably damaging	Het
Zmat5	T	A	11: 4,737,363	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,915,406	Q563*	probably null	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
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

2015-04-16