Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Sdad1'

396117

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92303934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 143 (T143A)

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: T143A

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

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: T143A

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 benign
Transcript: ENSMUST00000201143
AA Change: T143A

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

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: T143A

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

Meta Mutation Damage Score

0.0816

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 184,033,506	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,868,271	H37N	unknown	Het
Adam10	T	A	9: 70,766,074	C496S	probably damaging	Het
Akap2	G	T	4: 57,855,912	A414S	probably benign	Het
Aldh18a1	A	C	19: 40,554,817		probably benign	Het
Alox5	A	G	6: 116,413,786	F468S	probably benign	Het
Ankrd50	T	C	3: 38,455,803	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,747,323	D72E	probably damaging	Het
Apaf1	T	C	10: 91,060,094	Y372C	probably damaging	Het
Apob	C	T	12: 8,010,086	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,627,323	V70A	probably damaging	Het
Cdc42bpg	T	A	19: 6,320,618	L1247H	probably damaging	Het
Cel	A	G	2: 28,559,423	V264A	probably benign	Het
Celsr2	T	C	3: 108,398,659	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,954,946	W706R	probably damaging	Het
Col22a1	G	T	15: 71,799,337	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,489,960		probably null	Het
Dhx30	T	G	9: 110,098,795	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,399,665	R452H	probably damaging	Het
Dnah12	T	A	14: 26,770,477	D1191E	probably damaging	Het
Dock3	A	T	9: 106,932,997	I164N	probably damaging	Het
Edrf1	T	A	7: 133,651,044	M436K	probably benign	Het
Eif2ak2	T	A	17: 78,866,345	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,527,451	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,407,501	E252G	probably damaging	Het
Gcm2	A	G	13: 41,102,959	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gm21994	A	T	2: 150,255,490	Y34*	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm4846	T	C	1: 166,483,982	D436G	probably damaging	Het
Gm5414	T	A	15: 101,627,768	I141F	probably damaging	Het
Gm6185	T	A	1: 161,198,231		noncoding transcript	Het
Grip2	T	C	6: 91,773,916	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,243,516	V160E	probably benign	Het
Hormad1	T	C	3: 95,585,220		probably benign	Het
Ighv2-1	A	T	12: 113,574,462		probably benign	Het
Igkv4-92	A	T	6: 68,755,554	C14S	probably benign	Het
Iqsec3	T	C	6: 121,383,919	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,588,746		probably benign	Het
Kitl	T	C	10: 100,088,222		probably null	Het
Klhl26	G	T	8: 70,452,718	R100S	probably benign	Het
Kpna4	C	T	3: 69,092,809		probably null	Het
Lama5	T	A	2: 180,202,220	N383Y	possibly damaging	Het
Large1	T	G	8: 72,818,096	I685L	probably benign	Het
Larp4b	A	G	13: 9,170,737	E590G	probably damaging	Het
Liph	A	T	16: 21,956,165	C425*	probably null	Het
Lrrc31	A	T	3: 30,684,890	C327*	probably null	Het
Lrrc36	T	C	8: 105,463,898	V733A	probably benign	Het
Mmel1	T	A	4: 154,882,324	I83K	probably benign	Het
Myo16	G	T	8: 10,476,114	V885L	probably benign	Het
Naip2	A	T	13: 100,179,440	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,427,786	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,224,245	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,129,653	V922E	probably damaging	Het
Oc90	A	G	15: 65,883,830	S223P	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1253	A	T	2: 89,751,895	L311H	possibly damaging	Het
Olfr1508	T	C	14: 52,463,854	I52V	probably benign	Het
Pdlim5	C	T	3: 142,304,365	R174H	probably benign	Het
Pex5l	G	T	3: 32,955,831	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,101,363		probably benign	Het
Pramef8	T	G	4: 143,419,009	S349R	probably benign	Het
Prl8a1	A	T	13: 27,579,819		probably null	Het
Ryr2	G	T	13: 11,662,130	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,577,025	M324V	probably benign	Het
Sec11a	A	T	7: 80,923,064		probably benign	Het
Sema6a	A	G	18: 47,291,172	V223A	probably damaging	Het
Serpinb6c	A	G	13: 33,880,097	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,430,127	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,594	N22D	unknown	Het
Stard13	C	T	5: 151,062,767	W308*	probably null	Het
Tanc2	C	T	11: 105,857,553	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,720,544	N282K	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,789,355	I48T	probably damaging	Het
Usp36	G	T	11: 118,264,905	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,633,789	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,543,022		noncoding transcript	Het
Zfp663	A	T	2: 165,353,670	C210S	possibly damaging	Het
Zfp747	T	C	7: 127,374,394	I201M	probably damaging	Het
Zic4	C	T	9: 91,384,152	T276M	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
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'- AAGTTCTGCAGCACCTACGG -3'
(R):5'- TTCTTTCTGTAGGATGACTCCATG -3'

Sequencing Primer
(F):5'- CTACGGACCCGGGGAGAAG -3'
(R):5'- AGAGAGCAGCAGTCTTACCGTTTC -3'

Posted On

2016-06-21