Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Sdad1'

575593

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: 0.968) question?

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92305737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 64 (A64V)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031364
AA Change: A64V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: A64V

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: A64V

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

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: A64V

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

probably null
Transcript: ENSMUST00000202870
AA Change: A64V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably null
Transcript: ENSMUST00000202870
AA Change: A64V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	C	T	13: 64,297,317	G164D	possibly damaging	Het
Abca6	A	G	11: 110,250,477	V6A	probably benign	Het
Adam29	T	A	8: 55,872,898	M174L	probably benign	Het
Ano1	G	A	7: 144,655,641	T274I	probably benign	Het
Atad5	A	T	11: 80,095,862	T592S	probably benign	Het
Bud13	C	T	9: 46,287,815	P158L	probably benign	Het
Card19	T	C	13: 49,208,137	Y6C	probably damaging	Het
Cd36	C	G	5: 17,788,274	V393L	probably benign	Het
Cd79a	A	T	7: 24,897,546	R9*	probably null	Het
Cep164	T	C	9: 45,768,542	H1131R	probably benign	Het
Chia1	T	A	3: 106,130,664	S321T	probably benign	Het
Chrnd	T	A	1: 87,194,821	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,763,394		probably null	Het
Csn1s2a	T	C	5: 87,780,006	S60P	possibly damaging	Het
Defa30	T	A	8: 21,135,455	N78K	probably benign	Het
Dnah2	C	T	11: 69,478,797	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,117,407		probably null	Het
Epn1	A	T	7: 5,097,688	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,012,486	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,494,611	P179Q	probably damaging	Het
Git2	T	C	5: 114,730,370	T647A	probably benign	Het
Gli2	T	C	1: 118,835,939	N1494S	probably benign	Het
Gm4952	G	A	19: 12,626,901	G226R	probably damaging	Het
Gm5460	T	A	14: 34,036,757	F156I	probably damaging	Het
Gm884	A	T	11: 103,613,625	S2506T	probably benign	Het
Heatr5b	A	T	17: 78,808,480	V849D	probably damaging	Het
Hepacam	A	G	9: 37,380,709	D111G	probably benign	Het
Hk1	T	C	10: 62,269,982	D895G	probably damaging	Het
Kdm5b	T	C	1: 134,604,497	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,449,118	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt82	T	C	15: 101,545,587	T229A	probably damaging	Het
Lztr1	T	C	16: 17,524,129	L656P	probably damaging	Het
Mfrp	T	C	9: 44,102,476		probably benign	Het
Mrvi1	A	T	7: 110,871,473	Y678*	probably null	Het
Nfe2l1	A	G	11: 96,819,913	S497P	probably benign	Het
Olfr694	G	A	7: 106,689,020	A237V	possibly damaging	Het
Olfr907	G	T	9: 38,499,063	L131F	probably benign	Het
Otud4	C	A	8: 79,664,108	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,515,203	N462D	probably damaging	Het
Plch1	A	G	3: 63,722,857	S497P	probably damaging	Het
Plekha8	T	C	6: 54,613,194	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,687,581	F121L	probably null	Het
Selenop	G	T	15: 3,279,570	A335S	probably damaging	Het
Shc3	T	C	13: 51,431,235	N448S	probably benign	Het
Shcbp1	G	A	8: 4,748,737	T394I	probably benign	Het
Slc39a11	G	T	11: 113,247,822	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Speg	T	A	1: 75,430,905	S3185R	probably damaging	Het
Tmem100	A	T	11: 90,035,753	*135Y	probably null	Het
Ube2o	A	T	11: 116,540,072	F1001I	probably damaging	Het
Usp7	T	C	16: 8,710,121	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,363,870	T648A	probably damaging	Het
Vmn2r67	A	G	7: 85,136,736	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 121,651,791		probably benign	Het
Zfp800	A	G	6: 28,243,719	S416P	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
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
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'- CCAGCATGCTGAATGGAAAAC -3'
(R):5'- CTGATTCTCTGTGCCACTGG -3'

Sequencing Primer
(F):5'- GAAAACCCTTTTCTGATGATTTTGG -3'
(R):5'- CCACTGGCAAGGGTGTGTG -3'

Posted On

2019-10-07