Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Sdad1'

207529

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 92305296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 68 (Q68*)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031364] [ENSMUST00000201143] [ENSMUST00000202870]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031364
AA Change: Q68*

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: Q68*

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 null
Transcript: ENSMUST00000201143
AA Change: Q68*

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: Q68*

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: ENSMUST00000201532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202680

Predicted Effect

probably benign
Transcript: ENSMUST00000202870

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,976,092	I212N	probably benign	Het
Aco1	A	G	4: 40,197,566	K857E	probably benign	Het
Adam20	A	G	8: 40,796,043	N397D	probably benign	Het
Adgrf3	T	G	5: 30,199,213	D347A	probably damaging	Het
Ang6	C	T	14: 44,001,873	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,463,408	W205R	probably damaging	Het
Arhgef40	C	A	14: 51,997,623	R1086S	probably damaging	Het
Atr	G	T	9: 95,905,817	A1488S	probably benign	Het
Cabin1	A	T	10: 75,743,350		probably null	Het
Cdh22	A	C	2: 165,143,694	F324C	probably damaging	Het
Cep350	T	C	1: 155,848,628	I3075V	probably damaging	Het
Chd9	A	T	8: 90,956,695	K588*	probably null	Het
Clns1a	A	T	7: 97,696,859	I44F	probably damaging	Het
Colgalt1	T	C	8: 71,611,351	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,904,255	E217K	possibly damaging	Het
Ctss	A	G	3: 95,546,794		probably null	Het
Cyp1a1	A	G	9: 57,702,697	T465A	probably benign	Het
Dbn1	A	G	13: 55,481,347		probably null	Het
Dennd1b	A	G	1: 139,090,405		probably null	Het
Dnajc1	A	C	2: 18,294,027	Y49*	probably null	Het
Dock10	T	A	1: 80,543,201	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,283,039		probably null	Het
Efcab6	G	A	15: 83,967,621	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,879,586	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,724,878	V231A	probably benign	Het
Fetub	G	A	16: 22,935,669	E209K	possibly damaging	Het
Galc	A	T	12: 98,246,297		probably null	Het
Gm6871	A	T	7: 41,573,468	N65K	probably benign	Het
Gm8857	T	C	5: 10,949,027		probably benign	Het
Gstp3	A	G	19: 4,057,540	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,492,628	Y448C	probably benign	Het
Hdac7	G	T	15: 97,807,976	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655	V194M	possibly damaging	Het
Idh2	G	C	7: 80,098,877	T113R	probably benign	Het
Jarid2	A	C	13: 44,902,743	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,485,015	V255M	probably damaging	Het
Ldhb	C	A	6: 142,494,208	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,751	Y512*	probably null	Het
Lrp1	A	G	10: 127,595,283		probably null	Het
Map3k12	G	A	15: 102,503,535	P365S	probably damaging	Het
Map3k5	G	A	10: 20,104,163	D806N	probably benign	Het
Matn3	A	G	12: 8,967,662	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,723,974	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662	I428L	probably benign	Het
Mphosph8	T	C	14: 56,697,159	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,155,714	H3027L	possibly damaging	Het
Nbea	C	T	3: 56,082,436	R333H	probably damaging	Het
Notch1	G	T	2: 26,460,434	H2231Q	probably benign	Het
Npas2	A	T	1: 39,325,375	H266L	probably damaging	Het
Oas3	A	G	5: 120,759,980	S833P	probably damaging	Het
Olfr1141	A	C	2: 87,753,990	M1R	probably null	Het
Olfr344	T	C	2: 36,568,777	Y60H	probably damaging	Het
Olfr808	G	A	10: 129,767,856	R120H	probably benign	Het
Olfr994	T	C	2: 85,429,921	T303A	probably benign	Het
Pak4	C	T	7: 28,565,265	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,112,395	V1075A	probably damaging	Het
Pkp3	G	A	7: 141,088,502	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,632,374	T381A	probably benign	Het
Plppr3	A	G	10: 79,866,410		probably null	Het
Ppp2r5e	A	T	12: 75,469,766	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,921,911	V412D	probably benign	Het
Prss50	A	G	9: 110,858,013		probably benign	Het
Psph	A	C	5: 129,766,468	I174R	probably damaging	Het
Ptov1	A	G	7: 44,865,567	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,434,510	S585P	probably damaging	Het
Rnf146	A	T	10: 29,347,724	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,441,183	M2407K	probably damaging	Het
Rnls	A	C	19: 33,202,531	L55R	possibly damaging	Het
Rptor	T	C	11: 119,756,320	C246R	probably damaging	Het
Rrp12	C	T	19: 41,877,783		probably null	Het
Samd3	A	G	10: 26,251,774	D223G	probably damaging	Het
Selenov	G	A	7: 28,290,422	T219M	probably damaging	Het
Shd	A	G	17: 55,971,554	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,178,410	V245E	probably damaging	Het
Slit1	A	G	19: 41,625,573	L820P	probably damaging	Het
Snap23	T	C	2: 120,590,682	F96L	probably benign	Het
Spert	C	T	14: 75,583,410	V292I	probably benign	Het
Stkld1	A	G	2: 26,950,103	H395R	probably damaging	Het
Syt13	G	A	2: 92,940,820	G84D	probably damaging	Het
Terb2	T	A	2: 122,186,509	L37Q	probably damaging	Het
Themis	A	G	10: 28,781,757	Y107C	probably damaging	Het
Top2a	T	A	11: 99,016,069	T249S	probably benign	Het
Tspo2	A	T	17: 48,449,120	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,223,577	K753*	probably null	Het
Ttk	A	G	9: 83,854,862	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,755,673	R21905G	probably damaging	Het
Ugt3a2	T	A	15: 9,351,168	F88I	probably benign	Het
Vmn1r119	A	G	7: 21,012,196	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,716,763	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,286,994	K615*	probably null	Het
Wdr18	G	A	10: 79,966,727		probably null	Het
Wdr6	A	T	9: 108,575,977	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,026,498	T187A	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
R1169:Sdad1	UTSW	5	92298233	missense	probably benign	0.32
R1496:Sdad1	UTSW	5	92309823	missense	possibly damaging	0.94
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

PCR Primer
(F):5'- TTGCAAAACGTCTAGGGGTG -3'
(R):5'- CTTACAGAATCTGCAGGGACAC -3'

Sequencing Primer
(F):5'- CGTCTAGGGGTGAAAGAAAACATACC -3'
(R):5'- ACACTGAAAGCAGCAGGAAC -3'

Posted On

2014-06-23