Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Sdad1'

575981

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92300121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 252 (T252A)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (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: T252A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: T252A

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

probably benign
Transcript: ENSMUST00000201143
AA Change: T252A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: T252A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,695	E215G	probably benign	Het
4932438A13Rik	T	A	3: 36,948,341	H1478Q	probably benign	Het
4932438A13Rik	A	T	3: 36,983,394	H2448L	probably benign	Het
Adam8	T	A	7: 139,992,481		probably benign	Het
Ankrd35	A	G	3: 96,684,788	S797G	not run	Het
Anxa3	T	A	5: 96,834,821	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,721,592	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,255,652	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,297,460	Q613*	probably null	Het
Bmpr2	T	G	1: 59,867,351	N534K	probably benign	Het
C1qbp	T	C	11: 70,978,246		probably null	Het
C1qbp	G	T	11: 70,978,247		probably null	Het
C1ql3	T	G	2: 13,010,418	K144Q	possibly damaging	Het
C3	T	C	17: 57,204,039	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,216,243	Y252N	probably benign	Het
Capn13	T	C	17: 73,318,058	I632M	probably benign	Het
Catsperb	A	G	12: 101,591,498	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,948,758	V242D	probably damaging	Het
Cd68	T	C	11: 69,665,112	D200G	probably benign	Het
Cela3a	T	C	4: 137,405,588	N118D	probably benign	Het
Celsr2	A	G	3: 108,402,457	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,301,570	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,609,525	E190D	probably benign	Het
Cntnap3	G	A	13: 64,758,252	R847C	probably damaging	Het
Cntrob	G	A	11: 69,314,734	Q425*	probably null	Het
Commd9	G	A	2: 101,899,900	W128*	probably null	Het
Csnk1a1	C	T	18: 61,585,259	S352L	unknown	Het
Dact2	A	G	17: 14,196,331	S536P	probably damaging	Het
Ddx25	A	G	9: 35,554,586	I113T	probably benign	Het
Dscam	T	A	16: 96,629,398	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,876,659	F211L	probably benign	Het
Fryl	T	C	5: 73,104,748	T559A	probably damaging	Het
Hpx	C	A	7: 105,591,861	D402Y	probably damaging	Het
Ints13	A	G	6: 146,574,700		probably null	Het
Ipcef1	T	C	10: 6,956,066	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,709,807	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,699,612		probably null	Het
Lmod2	A	T	6: 24,603,476	H150L	probably benign	Het
Lrch3	T	C	16: 33,005,707	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287	V1082A	probably benign	Het
Nbas	G	T	12: 13,469,880	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,513,100	R671*	probably null	Het
Olfr1215	A	T	2: 89,002,200	F29L		Het
Olfr1441	A	C	19: 12,422,840	H177P	probably damaging	Het
Olfr214	A	T	6: 116,556,437	E4V	possibly damaging	Het
Olfr48	A	G	2: 89,844,445	L176P	probably damaging	Het
Olfr671	A	T	7: 104,975,061	L312*	probably null	Het
Pcdhga6	T	A	18: 37,708,566	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,392,573	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,308,733	R245C	probably damaging	Het
Rgl3	G	A	9: 21,976,827	Q464*	probably null	Het
Ryr2	T	C	13: 11,705,644	D2706G	probably benign	Het
Sbf2	G	A	7: 110,375,777	Q718*	probably null	Het
Sgk1	T	C	10: 21,994,110	L16P	probably damaging	Het
Slc38a8	A	G	8: 119,485,588	S339P	possibly damaging	Het
Slc44a4	T	C	17: 34,921,691	S287P	possibly damaging	Het
Syne1	T	C	10: 5,425,760	I111V	probably damaging	Het
Synm	A	C	7: 67,733,446	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,537,704	F232L	probably benign	Het
Traf3	A	T	12: 111,260,661	K328*	probably null	Het
Trim38	C	A	13: 23,788,382	Q229K	probably benign	Het
Vcan	A	G	13: 89,689,832	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,566	M1K	probably null	Het
Vmn2r87	T	C	10: 130,478,892	N275S	probably damaging	Het
Vps13a	T	A	19: 16,723,702	H701L	probably benign	Het
Vrk3	T	A	7: 44,770,924		probably null	Het
Zfp993	T	A	4: 146,657,641	S141T	possibly 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
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
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

PCR Primer
(F):5'- ACGTAGCCTATTCACCTAGAATG -3'
(R):5'- GCATTCACATGCGTACACAC -3'

Sequencing Primer
(F):5'- GCCTATTCACCTAGAATGTTAATGC -3'
(R):5'- GCGTACACACATATAAACACATGCTG -3'

Posted On

2019-10-07