Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Sdad1'

101453

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92298233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 280 (V280E)

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: V281E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: V281E

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: ENSMUST00000157998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201084

Predicted Effect

probably benign
Transcript: ENSMUST00000201143
AA Change: V280E

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: V280E

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	G	2: 23,256,982	K275E	possibly damaging	Het
Abhd17a	T	C	10: 80,583,947	E275G	probably damaging	Het
Adam10	T	A	9: 70,746,292	I123N	probably damaging	Het
Adam8	A	T	7: 139,983,929	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,494,116	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,454,252	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468	S389P	possibly damaging	Het
C4b	A	T	17: 34,742,972	L100Q	probably benign	Het
Cacul1	G	A	19: 60,580,408	A104V	probably damaging	Het
Camsap3	T	C	8: 3,603,866	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454	V61A	possibly damaging	Het
Chd1	T	A	17: 15,735,732	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,674,795	Q156*	probably null	Het
Clip2	T	A	5: 134,492,250	E978V	probably benign	Het
Cnpy2	T	G	10: 128,323,596	L34R	probably damaging	Het
Cog6	A	T	3: 53,013,844	C114S	probably benign	Het
Col6a3	A	T	1: 90,822,014	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,896,974		probably null	Het
Dmbt1	G	A	7: 131,074,524		probably null	Het
Dok1	A	G	6: 83,032,048	F218L	possibly damaging	Het
Dph7	T	A	2: 24,966,571	N178K	probably benign	Het
Enam	A	T	5: 88,503,258	E800D	probably damaging	Het
Fads3	A	T	19: 10,054,099	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,155,976	H265R	probably benign	Het
Gli1	T	A	10: 127,338,451	S24C	probably damaging	Het
Gm4894	T	A	9: 49,274,226	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,574,366	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,333,357	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,498,124	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,705,108	F285C	probably benign	Het
Igf1r	G	T	7: 68,165,127	V259L	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Ighg2c	A	T	12: 113,285,952		probably benign	Het
Ighv8-14	A	T	12: 115,808,455		probably null	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itsn2	A	G	12: 4,639,694	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,350,271	E38D	possibly damaging	Het
Krt42	T	G	11: 100,263,345		probably null	Het
Lman1l	T	C	9: 57,609,995	T369A	probably damaging	Het
Lpo	T	C	11: 87,817,317	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,900,930	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,083,264	D99V	probably damaging	Het
Lyplal1	T	C	1: 186,114,334	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,143,283	Q793*	probably null	Het
Myh10	T	G	11: 68,762,841	M346R	probably damaging	Het
Nav1	G	T	1: 135,455,205	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,968,323	V1642A	probably benign	Het
Olfr1066	A	G	2: 86,455,587	I228T	possibly damaging	Het
Olfr1104	A	G	2: 87,021,717	F276L	probably damaging	Het
Olfr1428	C	T	19: 12,109,489	R19H	probably benign	Het
Olfr870	T	C	9: 20,171,058	N171S	probably benign	Het
Orm3	G	A	4: 63,357,848	V166M	probably damaging	Het
Oxct1	T	A	15: 4,091,226	I264N	probably damaging	Het
Paox	G	A	7: 140,126,331	V55I	probably benign	Het
Pde4d	C	A	13: 109,950,928		probably null	Het
Pnliprp1	A	G	19: 58,734,951	N258S	probably damaging	Het
Prl7b1	C	A	13: 27,606,904	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,667,612	C261F	probably benign	Het
Rho	C	G	6: 115,932,238	N78K	probably damaging	Het
Rnf17	A	G	14: 56,514,165	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,733,014	T2922I	probably benign	Het
Saxo2	A	C	7: 82,635,171	F160V	possibly damaging	Het
Sbf2	A	T	7: 110,310,184	Y1786N	probably benign	Het
Sgsm1	T	C	5: 113,279,485	D90G	probably damaging	Het
Siglec1	A	T	2: 131,074,827	D1169E	probably damaging	Het
Sim1	T	A	10: 50,981,522	V456E	probably benign	Het
Skint8	T	A	4: 111,928,513	I52N	possibly damaging	Het
Slc27a1	C	A	8: 71,580,653	R280S	probably benign	Het
Slc9a3	G	A	13: 74,150,743	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,027,925	V936L	possibly damaging	Het
Syce1	A	G	7: 140,778,207	F255S	probably benign	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem200a	T	A	10: 25,994,348	I8F	probably damaging	Het
Trip6	T	C	5: 137,311,920	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,751,309	N177K	probably benign	Het
Wdr66	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,254,610		probably benign	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
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
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

Predicted Primers

Posted On

2014-01-15