Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Sdad1'

56501

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0583 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92305064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 105 (I105T)

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 benign
Transcript: ENSMUST00000031364
AA Change: I105T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: I105T

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 damaging
Transcript: ENSMUST00000201143
AA Change: I105T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: I105T

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: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,257,643	S483P	probably benign	Het
2700081O15Rik	A	G	19: 7,420,274	D62G	probably damaging	Het
5730480H06Rik	A	G	5: 48,380,128	H169R	probably damaging	Het
Actn1	T	A	12: 80,199,029	I127F	probably damaging	Het
AW822073	G	A	10: 58,223,388	L515F	probably damaging	Het
Cadm3	T	G	1: 173,341,171	T277P	probably benign	Het
Cast	T	C	13: 74,713,678	T629A	probably damaging	Het
Cblc	C	A	7: 19,792,561	C201F	probably benign	Het
Ccdc154	T	A	17: 25,168,424	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,473,183	D201G	probably damaging	Het
Cep95	T	C	11: 106,814,623	V478A	probably benign	Het
Ciita	T	C	16: 10,523,804		probably null	Het
Clec4e	A	G	6: 123,283,694	F135S	probably damaging	Het
Cntn6	A	G	6: 104,776,314	D337G	possibly damaging	Het
Crlf3	A	T	11: 80,059,281	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,407,601	F93I	probably damaging	Het
Dopey2	T	C	16: 93,755,486	I271T	probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,903,990	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,121,813	V244A	possibly damaging	Het
Ikzf5	A	G	7: 131,391,785		probably null	Het
Ilvbl	T	A	10: 78,583,267	V450E	probably damaging	Het
Kcns3	T	G	12: 11,091,478	N407H	probably damaging	Het
Klhl11	T	C	11: 100,464,324	K224E	possibly damaging	Het
Klra17	T	A	6: 129,868,693	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,498,437	D2054G	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrgbp	A	G	2: 180,584,446	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Muc5ac	C	A	7: 141,807,608	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,856,698	Y1269*	probably null	Het
Myef2	T	C	2: 125,097,981		probably null	Het
Myg1	C	T	15: 102,337,790	Q367*	probably null	Het
Nalcn	T	C	14: 123,294,343	N1365S	possibly damaging	Het
Nfu1	T	C	6: 87,009,952	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,174,779	Q132L	probably damaging	Het
Olfr1085	T	A	2: 86,658,360	I33F	probably benign	Het
Olfr516	C	T	7: 108,845,414	A199T	possibly damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Prh1	A	T	6: 132,571,833	Q101L	unknown	Het
Ribc2	A	T	15: 85,132,914		probably null	Het
Rnf19a	C	A	15: 36,253,005	R396L	probably damaging	Het
Sec24b	G	T	3: 130,041,311	Y79*	probably null	Het
Tatdn2	A	G	6: 113,702,525	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952	F725V	probably damaging	Het
Themis3	T	C	17: 66,559,753	D164G	probably benign	Het
Ubxn7	T	C	16: 32,375,914	W220R	probably damaging	Het
Usp33	C	A	3: 152,368,254	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,676,781	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,618,949	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Yme1l1	T	C	2: 23,186,250	V340A	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
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
R9166:Sdad1	UTSW	5	92298221	nonsense	probably null
R9732:Sdad1	UTSW	5	92291083	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCATTCGGCCTATTTCCTGGAC -3'
(R):5'- GAGCATCTCAGTAACTTCCCGCAG -3'

Sequencing Primer
(F):5'- CTGGACTAGGGTCTCTAAGCATAAC -3'
(R):5'- AGCTGAAGGACCTGCTCTC -3'

Posted On

2013-07-11