Mutagenetix > Incidental Mutation

Incidental Mutation 'R8198:Sdad1'

635532

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 #

R8198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92291952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 405 (C405S)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031364
AA Change: C405S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: C405S

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 damaging
Transcript: ENSMUST00000201143
AA Change: C404S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: C404S

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 42,003,060	*168R	probably null	Het
Adgrb1	C	A	15: 74,539,245	T330K	probably damaging	Het
AF366264	T	A	8: 13,837,056	Y345F	probably benign	Het
AI481877	T	C	4: 59,065,174	I814V	probably benign	Het
Ankrd27	T	C	7: 35,608,455	V373A	probably benign	Het
Aoah	C	T	13: 20,917,120	P270L	probably damaging	Het
AU041133	C	G	10: 82,151,415	P301A	probably damaging	Het
Aven	C	T	2: 112,559,775	R8W	probably benign	Het
Cd2bp2	A	G	7: 127,194,404	S204P	possibly damaging	Het
Clca4b	C	A	3: 144,932,406	G32C	probably damaging	Het
Clcn2	A	G	16: 20,707,196	V808A	probably damaging	Het
Clec4d	T	C	6: 123,268,006	C82R	probably damaging	Het
Dennd1c	T	C	17: 57,066,460	D671G	possibly damaging	Het
Eml5	G	A	12: 98,858,886	R691*	probably null	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gm11808	C	A	4: 3,973,346	R72L	probably benign	Het
Gm4922	T	C	10: 18,783,592	T461A	probably benign	Het
Gm9964	A	G	11: 79,296,579	V14A	unknown	Het
Gnb3	T	C	6: 124,837,037	Y196C	probably benign	Het
Hist1h4b	C	G	13: 23,757,300	Q94E	possibly damaging	Het
Hps1	C	T	19: 42,767,220	R189Q	probably benign	Het
Iars2	G	A	1: 185,297,506	T638I	probably benign	Het
Itpripl2	A	G	7: 118,490,596	S247P	probably damaging	Het
Leng8	C	A	7: 4,144,171	R523S	possibly damaging	Het
Lhfpl3	T	A	5: 23,273,335	V72D	probably benign	Het
Lmntd2	A	T	7: 141,211,221	M426K	possibly damaging	Het
Lsg1	A	T	16: 30,564,776	V542E	probably benign	Het
Mphosph6	C	T	8: 117,792,710	V108I	probably benign	Het
Mta2	A	G	19: 8,947,781	T338A	probably benign	Het
Ncoa7	T	C	10: 30,704,668	N98S	probably benign	Het
Olfr1352	C	A	10: 78,984,609	T273K	probably benign	Het
Olfr652	T	A	7: 104,564,933	D237E	probably benign	Het
Olfr8	T	A	10: 78,955,724	V173E	probably damaging	Het
Pgr	T	C	9: 8,958,410	V806A	possibly damaging	Het
Rad54b	T	C	4: 11,612,440		probably null	Het
Smg1	T	C	7: 118,145,606	I3108V	probably benign	Het
Spink5	A	T	18: 43,992,880	I409F	probably benign	Het
Syt13	C	A	2: 92,953,554	L390M	probably damaging	Het
Taf5	T	A	19: 47,075,773	V385E	probably damaging	Het
Tdrd9	T	A	12: 112,040,429	V909E	probably damaging	Het
Tex9	G	A	9: 72,480,658		probably benign	Het
Timm10b	G	T	7: 105,678,330	E61*	probably null	Het
Tmprss11g	A	T	5: 86,498,493	F72I	probably benign	Het
Trank1	T	C	9: 111,390,812	C2206R	probably benign	Het
Unc45b	GC	G	11: 82,925,988		probably null	Het
Unc93b1	T	C	19: 3,941,910	S215P	possibly damaging	Het
Usp48	C	T	4: 137,621,159		probably benign	Het
Vmn1r81	A	G	7: 12,259,955	V242A	possibly damaging	Het
Zgrf1	T	A	3: 127,596,024		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
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
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'- ATCTGAGGGTTCAATGTCCGG -3'
(R):5'- GTCAGAGGAAGTGCAACTGTTG -3'

Sequencing Primer
(F):5'- TGGATCAAAGTCCTGGCAGACATC -3'
(R):5'- CAACTGTTGGGAATGTCAGTC -3'

Posted On

2020-07-13