Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Sdad1'

696050

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 #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 92298221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 285 (S285*)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031364
AA Change: S285*

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: S285*

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 null
Transcript: ENSMUST00000201143
AA Change: S284*

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: S284*

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,171,048		probably null	Het
4932438A13Rik	T	A	3: 36,987,367	N2630K	probably damaging	Het
4932438H23Rik	A	G	16: 91,056,158	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,548,626	M875L	probably benign	Het
Amot	A	T	X: 145,461,749	L435H		Het
Ankrd13c	T	A	3: 157,999,720	S427T	probably benign	Het
Ap3b1	A	C	13: 94,471,728	Y569S	probably damaging	Het
Bco2	A	G	9: 50,536,367	V352A	probably benign	Het
Cacnb1	T	A	11: 98,019,708	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,392,711	Q132K	probably benign	Het
Chrd	T	C	16: 20,735,822	M377T	probably benign	Het
Coq7	T	C	7: 118,510,142	T228A	unknown	Het
D7Ertd443e	G	A	7: 134,298,319	T438I	probably benign	Het
Dlc1	C	T	8: 36,599,435	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,413,749	R109Q	probably damaging	Het
Dysf	T	C	6: 84,149,977	V1359A	probably damaging	Het
E2f7	C	T	10: 110,782,224	P717S	probably benign	Het
Elmo2	T	C	2: 165,290,518	D669G	probably benign	Het
Epha6	A	G	16: 60,604,875	V125A	probably benign	Het
Erg	G	T	16: 95,389,948	H119N	probably benign	Het
Fam13b	T	C	18: 34,462,199	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800	Q297E	probably benign	Het
Gas2	A	G	7: 51,936,575	E145G	possibly damaging	Het
Gas7	T	C	11: 67,670,620	V218A	probably benign	Het
Gm9833	A	G	3: 10,088,789	N206S	probably benign	Het
Gm9970	A	G	5: 31,241,001	S78P	unknown	Het
Hectd4	A	C	5: 121,308,627	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,353,513	S317A	probably damaging	Het
Hspg2	T	C	4: 137,542,874	L2381P	probably damaging	Het
Irf4	A	T	13: 30,757,501	H280L	probably benign	Het
Irf7	A	G	7: 141,264,753	V142A	probably benign	Het
Kat7	T	C	11: 95,300,102	I94V	probably benign	Het
Kera	T	A	10: 97,612,968	I350K	possibly damaging	Het
Klf15	T	C	6: 90,466,970	S176P	probably benign	Het
Lrrc59	C	A	11: 94,632,133	T53N	probably benign	Het
Morn5	T	C	2: 36,055,012	Y83H	probably damaging	Het
Neil3	A	C	8: 53,605,687	M273R	probably damaging	Het
Ngfr	A	T	11: 95,574,221	V267E	possibly damaging	Het
Nudc	T	C	4: 133,545,854	D11G	probably damaging	Het
Olfr1254	T	A	2: 89,788,947	N135I	probably damaging	Het
Olfr31	A	T	14: 14,329,059	D316V	probably benign	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,192,214	G966R	probably damaging	Het
Ppfibp1	A	G	6: 147,019,482	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,396,307	R37L	probably benign	Het
Prpf8	T	C	11: 75,496,514	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,856,825	I527F	probably damaging	Het
Pspc1	A	G	14: 56,761,848	M317T	probably damaging	Het
Ptpru	C	T	4: 131,797,869	V768I	probably benign	Het
Ptx4	A	G	17: 25,124,572		probably null	Het
Ralgapb	T	C	2: 158,432,922		probably null	Het
Rhobtb2	C	A	14: 69,797,254	G174V	probably damaging	Het
Sema4f	G	T	6: 82,913,645	S727*	probably null	Het
Sik1	A	G	17: 31,850,753	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,524,031	S279P	probably benign	Het
Slco4a1	A	G	2: 180,464,241	E72G	probably benign	Het
Smok3c	A	T	5: 138,065,519	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,796,372	V1078A	probably benign	Het
Sptb	A	G	12: 76,627,002	V337A	probably damaging	Het
Tet2	C	A	3: 133,468,172	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,560,981	L13H	probably damaging	Het
Tnrc6a	A	G	7: 123,187,401	E1562G	probably damaging	Het
Trim24	A	T	6: 37,957,139	K742N	probably damaging	Het
Trim56	A	T	5: 137,113,897	V255E	probably damaging	Het
Trmt12	A	G	15: 58,872,759	E2G	probably benign	Het
Tubd1	A	T	11: 86,561,265	T353S	probably benign	Het
Vim	T	C	2: 13,574,745	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,864,007	V404E	probably damaging	Het
Wdr62	G	A	7: 30,242,449	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,190,273	C32*	probably null	Het
Zfp750	T	A	11: 121,513,154	R298S	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
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
R9732:Sdad1	UTSW	5	92291083	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGACTCTGAAGCCACAG -3'
(R):5'- TGGAAAACAAGCTCCAGGTTCG -3'

Sequencing Primer
(F):5'- TCTGAAGCCACAGCCTGATG -3'
(R):5'- TTCGAAGGTCCGGAGTTCAAATCC -3'

Posted On

2022-02-07