Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Sdad1'

550693

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 #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92293973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 365 (V365A)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (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: V365A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: V365A

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: V364A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: V364A

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,770,788	A26T	probably benign	Het
Acly	T	C	11: 100,492,291		probably null	Het
Adam29	A	C	8: 55,871,404	L672V	probably benign	Het
Adgrf1	T	C	17: 43,310,602	S577P	probably benign	Het
Ankar	T	C	1: 72,643,293	K1371R	probably damaging	Het
Arid5b	T	C	10: 68,098,179	D631G	probably damaging	Het
Brpf3	T	C	17: 28,806,637	V228A	probably benign	Het
C3	T	C	17: 57,206,276	D1457G	probably benign	Het
Calr4	A	T	4: 109,242,229	N143I	probably benign	Het
Catsperd	T	G	17: 56,628,811		probably null	Het
Cobl	T	A	11: 12,296,540	H154L		Het
Cryzl2	G	A	1: 157,488,584		probably benign	Het
Dennd1c	A	G	17: 57,067,915		probably null	Het
Dnah8	A	T	17: 30,704,724	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,866,768	S218P	probably benign	Het
Fbxw27	G	T	9: 109,770,155	T398N	probably damaging	Het
Fhod3	A	G	18: 25,090,162	D855G	probably benign	Het
Flii	A	G	11: 60,720,655	V410A	probably benign	Het
Fsip2	C	A	2: 82,987,624	P4567Q	probably benign	Het
Fxyd1	T	G	7: 31,053,033	Q66H	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gramd3	C	T	18: 56,491,945	T370I	probably benign	Het
Kdr	A	G	5: 75,944,333	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,830,546	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,173,108	R92G	probably benign	Het
Map1a	T	A	2: 121,300,517	S605T	probably benign	Het
Megf8	A	T	7: 25,346,520	D1496V	probably damaging	Het
Mgam	T	C	6: 40,661,716	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Nav3	T	C	10: 109,703,334	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,645,438		probably null	Het
Ndst1	A	G	18: 60,695,500	F661L	possibly damaging	Het
Neu3	G	A	7: 99,813,820	T232M	possibly damaging	Het
Nf1	T	C	11: 79,570,330	S741P	probably benign	Het
Nr5a1	G	T	2: 38,694,136	L424M	probably damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr1301	A	T	2: 111,755,076	T276S	probably benign	Het
Olfr1426	A	G	19: 12,088,166	F209L	possibly damaging	Het
Olfr212	T	A	6: 116,516,760	*328R	probably null	Het
Olfr952	G	A	9: 39,426,303	T256I	probably benign	Het
Otud7a	A	G	7: 63,757,455	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,746	L237S	probably damaging	Het
Pias1	A	G	9: 62,881,145	M79T		Het
Prom2	T	C	2: 127,539,778	E206G	probably benign	Het
Scarb1	A	T	5: 125,304,350	N43K	probably damaging	Het
Sdk2	T	C	11: 113,834,905	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,243,497	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,629,573	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750	H53Q	probably damaging	Het
Spata22	T	C	11: 73,340,399	F160L	probably benign	Het
Stag1	G	A	9: 100,944,826	V949I	probably benign	Het
Syne1	T	C	10: 5,123,744	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,254,891	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,630,341	M226I	probably benign	Het
Tep1	T	C	14: 50,844,487		probably null	Het
Tigd2	C	A	6: 59,210,181	T11K	probably damaging	Het
Trappc9	A	G	15: 72,693,619	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,240,989	M455T	probably benign	Het
Usp42	A	T	5: 143,726,645	S95T	probably damaging	Het
Usp44	T	C	10: 93,850,187	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,756,393	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,672,541	I616N	probably damaging	Het
Zfp352	A	G	4: 90,224,880	K419R	probably benign	Het
Zfp595	T	A	13: 67,317,647	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,772,161	S301T	probably benign	Het
Zzef1	T	C	11: 72,872,649	V1374A	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
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
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'- TGGTTATTAAACTCAGAAGCCTCAG -3'
(R):5'- CGGTTGAACCATGCAGACAG -3'

Sequencing Primer
(F):5'- AGCTCCTTTCTGTCAACTGTACAG -3'
(R):5'- ACCATGCAGACAGGTCGG -3'

Posted On

2019-05-15