Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Sdad1'

668491

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 #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92304998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 127 (R127L)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (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: R127L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: R127L

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

possibly damaging
Transcript: ENSMUST00000201143
AA Change: R127L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: R127L

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 benign
Transcript: ENSMUST00000202870

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,229,008	M2246T	probably benign	Het
Abcc2	T	C	19: 43,822,035	S924P	probably benign	Het
Acacb	A	G	5: 114,226,783	H1508R	probably damaging	Het
Adam34	T	C	8: 43,651,604	M335V	probably benign	Het
Akap8	A	T	17: 32,310,651	N438K	probably damaging	Het
Alpi	C	A	1: 87,098,683	G529C	unknown	Het
Arhgap30	T	C	1: 171,397,526	V50A	probably damaging	Het
Armh1	T	C	4: 117,231,763	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,757,808	L564P	unknown	Het
Cdk12	C	T	11: 98,250,307	P1458L	unknown	Het
Chek1	A	G	9: 36,713,844	F314L	probably benign	Het
Cndp1	T	C	18: 84,628,813	D250G	probably damaging	Het
Cnot3	T	C	7: 3,653,523	V239A	probably benign	Het
Crhr2	A	G	6: 55,102,794	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,285,324	V1692D	probably damaging	Het
Dctd	T	A	8: 48,112,011	I57N	probably damaging	Het
Dennd5b	A	T	6: 149,009,774	L977*	probably null	Het
Dhrs13	G	C	11: 78,032,666	R70P	possibly damaging	Het
Dysf	T	C	6: 84,111,970	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,881,551	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,432,237	I757N	probably damaging	Het
Exog	A	G	9: 119,447,042	Q110R	possibly damaging	Het
Fbxl4	T	C	4: 22,403,704	C426R	probably benign	Het
Fndc11	A	C	2: 181,222,071	H223P	probably damaging	Het
Frmd3	T	A	4: 74,162,049	S334R	probably damaging	Het
Galnt14	A	T	17: 73,526,262	I239N	probably damaging	Het
Gm5930	C	T	14: 44,338,558	M1I	probably null	Het
Igkv4-63	A	G	6: 69,378,067	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,726,795	S42F	probably damaging	Het
Kalrn	T	A	16: 34,034,514	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,810,684	Y3788C	unknown	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lpo	T	C	11: 87,809,240	N525S	probably benign	Het
Med1	T	C	11: 98,155,773	H1399R	unknown	Het
Mga	T	A	2: 119,963,926	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,911,877	T188A	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Olfr959	G	T	9: 39,572,504	P252T	probably damaging	Het
Pbld1	A	T	10: 63,075,111	K248*	probably null	Het
Pcdhb12	G	A	18: 37,437,421	R540H	probably benign	Het
Pcx	G	T	19: 4,602,011	A96S	probably damaging	Het
Plcb1	A	G	2: 135,252,776	I174V	probably benign	Het
Psme3	T	C	11: 101,320,596	I193T	probably damaging	Het
Pygl	A	T	12: 70,197,406	M587K	probably benign	Het
Rph3a	A	T	5: 120,962,438	H132Q	probably damaging	Het
Scrib	C	A	15: 76,064,505	D501Y	probably damaging	Het
Setdb1	T	C	3: 95,341,730	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 134,127,805	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,169,743		probably benign	Het
Slc17a8	G	A	10: 89,592,896	A261V	probably benign	Het
Sox6	T	A	7: 115,662,397	I195F	probably damaging	Het
Syne1	T	C	10: 5,140,928	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,266,492	T316M	probably damaging	Het
Tnfrsf19	T	C	14: 60,971,002	T357A	probably benign	Het
Top2a	T	A	11: 99,010,042	T574S	probably damaging	Het
Trappc3l	G	A	10: 34,098,921	C133Y	probably damaging	Het
Unk	C	T	11: 116,047,814	T81I	probably damaging	Het
Vamp1	G	A	6: 125,240,425	R144K	unknown	Het
Wnt9b	T	C	11: 103,733,661	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,462,524	D390V	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
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
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'- CCTTAGGCTTTTGTAAGGAGAAC -3'
(R):5'- TCTTAGACCCAGATCTCCGC -3'

Sequencing Primer
(F):5'- CATATACTTGATATTGATCCCTGGTC -3'
(R):5'- CCAGATCTCCGCATGGTAGGAAG -3'

Posted On

2021-04-30