Mutagenetix > Incidental Mutation

Incidental Mutation 'R4477:Sdad1'

331310

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

041734-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4477 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92297160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 315 (M315T)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031364
AA Change: M316T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: M316T

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: ENSMUST00000201084

Predicted Effect

probably damaging
Transcript: ENSMUST00000201143
AA Change: M315T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: M315T

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

Meta Mutation Damage Score

0.4888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,275,086	S549P	probably damaging	Het
Agfg1	T	C	1: 82,875,340	S75P	probably damaging	Het
AK157302	T	A	13: 21,495,691	V129E	possibly damaging	Het
Angpt1	A	G	15: 42,468,164	Y344H	probably damaging	Het
Ap1m2	A	G	9: 21,298,213	V389A	probably benign	Het
BC080695	A	G	4: 143,571,162	I51V	probably benign	Het
Bicd2	T	A	13: 49,377,972	I230N	probably damaging	Het
C5ar1	T	C	7: 16,248,864	N77S	probably damaging	Het
Cacna1c	C	T	6: 118,630,239	V1235M	possibly damaging	Het
Cdh15	A	G	8: 122,864,676	H517R	probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dbn1	CCCGCTCCCGGTAGCGCCGCTC	CCCGCTC	13: 55,481,561		probably benign	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Fmn1	T	A	2: 113,444,399		probably benign	Het
Gm3159	T	C	14: 4,398,584	Y92H	probably damaging	Het
Gm7138	A	T	10: 77,776,412		probably benign	Het
Ift172	C	T	5: 31,265,437	A890T	probably benign	Het
Inpp5j	T	C	11: 3,501,625	T426A	probably damaging	Het
Katna1	T	C	10: 7,738,830	V32A	probably damaging	Het
Lrrc71	G	C	3: 87,742,665	R319G	probably damaging	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mmp19	A	T	10: 128,795,637	T129S	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Neo1	T	C	9: 58,877,299	D1458G	probably damaging	Het
Nup35	T	C	2: 80,657,143		probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Pdlim5	C	T	3: 142,259,217	S417N	probably benign	Het
Pla2g4f	A	G	2: 120,303,672	S478P	probably damaging	Het
Plekhn1	G	A	4: 156,223,399	R357W	probably damaging	Het
Pom121	T	C	5: 135,381,988	T772A	unknown	Het
Rasgef1a	A	T	6: 118,085,475	H232L	possibly damaging	Het
Syt9	A	G	7: 107,425,221	N107S	probably damaging	Het
Traf3	T	C	12: 111,248,602	S202P	probably benign	Het
Vmn2r9	T	C	5: 108,846,277	E502G	probably benign	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Zfp770	G	A	2: 114,196,884	L235F	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
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'- CAGTAGATAAAAGCAGCTGCC -3'
(R):5'- ACCGCTAGGACTTTGCTGTC -3'

Sequencing Primer
(F):5'- CTTCAGAAGGATAGGCTGCACTTG -3'
(R):5'- GCTGTCCCTTCCCCTGGG -3'

Posted On

2015-07-21