Mutagenetix > Incidental Mutation

Incidental Mutation 'R8746:Sdad1'

663545

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 #

R8746 (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 92289925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 589 (S589P)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (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: S589P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: S589P

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 benign
Transcript: ENSMUST00000201143
AA Change: S588P

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

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: S588P

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: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,303,410	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,294,293	E100A	possibly damaging	Het
Aatf	A	T	11: 84,511,512	I116N	probably benign	Het
Abcb11	G	T	2: 69,257,410		probably benign	Het
Adarb2	G	T	13: 8,752,644	A652S	probably benign	Het
Adgb	C	T	10: 10,405,284		probably null	Het
Ankrd34a	C	T	3: 96,597,475		probably benign	Het
Ano2	A	G	6: 125,863,550	I395V	probably benign	Het
Cadm2	C	A	16: 66,784,809	R203L	probably damaging	Het
Ccr2	T	C	9: 124,106,411	F243L	probably benign	Het
Ccr4	A	G	9: 114,492,850	V49A	probably damaging	Het
Corin	T	C	5: 72,435,352	D234G	probably benign	Het
Drd5	G	T	5: 38,320,090	R142I	probably benign	Het
Dsg1b	A	G	18: 20,395,999	D264G	probably damaging	Het
Ezh2	T	C	6: 47,576,600	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,292,409	T981S	probably benign	Het
Gcg	T	A	2: 62,474,981	K180N	probably damaging	Het
Gm10840	G	A	11: 106,160,916	E23K	unknown	Het
Gm2696	T	G	10: 77,815,203	C174W	unknown	Het
Grin2b	T	C	6: 135,922,987	I299V	probably benign	Het
Hepacam	T	A	9: 37,381,734	V207E	probably damaging	Het
Igf1r	T	A	7: 68,214,997	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,976,039	S96P	possibly damaging	Het
Marf1	T	A	16: 14,117,304	E1533D	probably benign	Het
Megf9	A	G	4: 70,435,274	C432R	probably damaging	Het
Mpp2	A	G	11: 102,063,214	Y236H	probably damaging	Het
Neb	T	C	2: 52,282,601	I1565V	probably damaging	Het
Olfr1001-ps1	T	A	2: 85,633,877	Y149*	probably null	Het
Olfr1392	A	G	11: 49,293,166		probably benign	Het
Olfr1469	A	G	19: 13,410,728	D53G	probably benign	Het
Olfr203	T	A	16: 59,303,610	F152L	probably benign	Het
Olfr308	C	T	7: 86,321,229	C241Y	probably damaging	Het
Olfr663	A	T	7: 104,703,860	I98F	probably damaging	Het
Olfr826	T	C	10: 130,180,217	Y221C	probably damaging	Het
Patj	T	A	4: 98,505,830		probably benign	Het
Pknox1	A	T	17: 31,590,650	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,957,777	T953K		Het
Plekhn1	C	A	4: 156,232,225	R333L	probably damaging	Het
Plk5	T	A	10: 80,358,776	V111D	probably benign	Het
Polr1b	A	G	2: 129,112,677	I398M	possibly damaging	Het
Ranbp3	T	C	17: 56,702,826	V137A	probably benign	Het
Rc3h1	T	A	1: 160,930,174	F21I	probably damaging	Het
Rgs8	T	C	1: 153,671,791	S56P	probably damaging	Het
Rhpn1	G	A	15: 75,713,576	V593M	probably damaging	Het
Skp1a	A	G	11: 52,246,016	K163R	probably damaging	Het
Slf2	A	G	19: 44,973,624	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,521,501		probably benign	Het
Tmem144	C	T	3: 79,825,348	V208M	probably damaging	Het
Tmem2	G	A	19: 21,826,101	G833R	probably damaging	Het
Tomm34	A	T	2: 164,060,964	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120	V2316D	unknown	Het
Yme1l1	T	A	2: 23,162,531	S66T	probably benign	Het
Zfc3h1	T	C	10: 115,407,980	S739P	probably damaging	Het
Zscan25	T	A	5: 145,287,347	V209E	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
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
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'- CCCACTCACCATTGCAGTTG -3'
(R):5'- TGGCTGTATGCTTTTCAAGGCC -3'

Sequencing Primer
(F):5'- ACCATTGCAGTTGCTAGTCTCG -3'
(R):5'- TGCTTTTCAAGGCCACGAAG -3'

Posted On

2021-03-08