Mutagenetix > Incidental Mutation

Incidental Mutation 'R2497:Sdad1'

251046

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

040411-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R2497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92300099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 259 (N259S)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (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: N259S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: N259S

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 benign
Transcript: ENSMUST00000201143
AA Change: N259S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: N259S

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

noncoding transcript
Transcript: ENSMUST00000202903

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,525,267		probably benign	Het
Acox2	A	G	14: 8,251,612	V295A	probably benign	Het
Agrn	T	C	4: 156,173,811	E959G	probably benign	Het
Aqp5	T	C	15: 99,591,299	F10L	possibly damaging	Het
Arhgap39	C	A	15: 76,725,385	V1025L	probably damaging	Het
Atg4d	C	T	9: 21,273,386	R459*	probably null	Het
Atp11b	A	G	3: 35,855,145	S1163G	probably damaging	Het
Atp13a5	G	T	16: 29,339,071	S173*	probably null	Het
Atp6v1g2	T	A	17: 35,236,786	I8N	probably damaging	Het
Ccdc77	C	T	6: 120,325,472	G430R	possibly damaging	Het
Cdc34b	A	G	11: 94,742,381	T136A	probably benign	Het
Cdkal1	A	G	13: 29,474,541	S23P	unknown	Het
Cdkl2	T	A	5: 92,008,998	H566L	probably benign	Het
Cers6	T	C	2: 69,071,446		probably benign	Het
Clspn	A	G	4: 126,572,347	T557A	possibly damaging	Het
Cmya5	T	C	13: 93,098,005	T192A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dnah17	T	G	11: 118,087,024		probably null	Het
Dnah8	C	T	17: 30,741,365	Q2239*	probably null	Het
Dscaml1	T	C	9: 45,745,078	V1572A	probably benign	Het
Elfn2	C	G	15: 78,674,264	E28Q	probably damaging	Het
Enam	T	A	5: 88,502,694	N687K	probably benign	Het
Flywch1	G	A	17: 23,755,711	R652W	probably benign	Het
Gm5612	T	C	9: 18,427,679		probably benign	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Mmp3	A	G	9: 7,450,131	T288A	probably benign	Het
Mtmr4	T	A	11: 87,600,823	F168L	probably damaging	Het
Myo1d	T	A	11: 80,674,821	N393Y	probably damaging	Het
Nacc2	A	T	2: 26,089,568	Y285*	probably null	Het
Nf1	G	T	11: 79,443,884	G844V	probably damaging	Het
Nox4	T	A	7: 87,295,876	Y113*	probably null	Het
Pcdha3	T	C	18: 36,947,503	C433R	probably benign	Het
Pde6c	A	G	19: 38,153,694	I358V	probably damaging	Het
Pdgfrb	A	T	18: 61,078,628	D819V	possibly damaging	Het
Phf3	C	A	1: 30,830,014	R651L	probably damaging	Het
Prrx1	A	G	1: 163,248,265	V244A	possibly damaging	Het
Ptges	C	T	2: 30,892,710	G110D	possibly damaging	Het
Rab27a	T	C	9: 73,084,981	L97P	probably damaging	Het
Rnf20	G	A	4: 49,652,676		probably null	Het
Serpinb9d	T	C	13: 33,196,517	S129P	probably damaging	Het
Slc1a4	T	C	11: 20,332,620		probably benign	Het
Smyd2	T	A	1: 189,885,337	N300I	possibly damaging	Het
Snd1	A	G	6: 28,888,079	I875V	probably benign	Het
Ssh1	T	C	5: 113,958,858	N174S	probably damaging	Het
Tanc2	T	C	11: 105,673,493		probably null	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tmem110	C	T	14: 30,872,580	L217F	probably damaging	Het
Tpcn1	C	T	5: 120,538,998		probably null	Het
Unc45b	A	T	11: 82,936,443	I699F	probably damaging	Het
Uspl1	C	T	5: 149,187,854	P27L	probably damaging	Het
Wdr66	T	C	5: 123,283,369	V98A	probably damaging	Het
Ylpm1	C	G	12: 84,996,761	P91R	probably damaging	Het
Zdhhc23	G	A	16: 43,973,915	T132M	probably damaging	Het
Zfp148	T	C	16: 33,496,385	Y434H	probably damaging	Het
Zhx2	T	C	15: 57,823,155	V640A	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
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'- TTTTGTCATAGCTGAACGTAGC -3'
(R):5'- TGCTGACATGGAAGCCAAAG -3'

Sequencing Primer
(F):5'- GTCATAGCTGAACGTAGCCTATTCAC -3'
(R):5'- CATGGAAGCCAAAGTAAATAAATGTC -3'

Posted On

2014-12-04