Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Sdad1'

555633

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

PIT4468001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92291918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 416 (D416G)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031364
AA Change: D416G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: D416G

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: D415G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: D415G

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: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940	L34F	probably damaging	Het
Alms1	T	C	6: 85,624,719		probably null	Het
Arhgap15	C	A	2: 44,243,131	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,906,162	H35L	probably benign	Het
Cep85	T	C	4: 134,148,697	N468S	probably damaging	Het
Chd8	A	C	14: 52,207,996	D1709E	probably benign	Het
Chd8	T	C	14: 52,217,881	I1050V	possibly damaging	Het
Clec9a	G	A	6: 129,419,634		probably null	Het
Cyp2c70	T	A	19: 40,165,362	D261V	probably damaging	Het
Deup1	T	C	9: 15,564,005	N420D	possibly damaging	Het
Dpys	T	A	15: 39,857,205	D53V	probably damaging	Het
Edem1	A	G	6: 108,844,867	E295G	probably damaging	Het
Farp2	G	T	1: 93,528,777	E61*	probably null	Het
Fat3	T	G	9: 15,996,351	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,290,956	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,091,082	P93Q	unknown	Het
Gm21976	A	T	13: 98,307,027	R229*	probably null	Het
Gpr108	A	T	17: 57,247,563	L25Q	probably null	Het
Hdac9	C	A	12: 34,095,934	V920F	unknown	Het
Ighv13-2	T	C	12: 114,357,973	S49G	probably benign	Het
Krt6a	T	C	15: 101,693,917	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463	S775P	possibly damaging	Het
Mki67	A	G	7: 135,699,147	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,912,812	E352G	probably damaging	Het
Nfya	A	G	17: 48,395,777	M61T	unknown	Het
Ntn4	A	G	10: 93,644,725	T104A	probably damaging	Het
Numb	G	A	12: 83,808,147	T135I	probably damaging	Het
Olfr1030	A	T	2: 85,984,448	T203S	probably benign	Het
Olfr1271	C	A	2: 90,266,220	C70F	probably benign	Het
Olfr599	A	C	7: 103,338,600	E182A	probably damaging	Het
Parpbp	A	C	10: 88,144,073	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,356,633	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,747,883	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,739,474	C785*	probably null	Het
Pkd1l3	A	G	8: 109,664,499	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,767,822	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,838,702	I350N	probably benign	Het
Rc3h2	C	A	2: 37,399,639	G387V	probably damaging	Het
Rfwd3	T	C	8: 111,282,720	H408R	probably benign	Het
Rpl3l	A	G	17: 24,735,483	T173A	probably benign	Het
Srp72	C	A	5: 76,994,206	T430K	probably benign	Het
Steap1	C	A	5: 5,736,642	G265V	probably damaging	Het
Sulf2	A	T	2: 166,080,800	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,742,388	D16V	probably damaging	Het
Tmem100	T	A	11: 90,035,361	S5T	probably benign	Het
Tnc	C	A	4: 63,964,667	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,453,332	S436P	probably benign	Het
Ttyh1	T	C	7: 4,119,772	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 33,621,541	S275C	probably benign	Het
Umodl1	A	G	17: 30,959,278	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,043,007	T222M	probably benign	Het
Usp42	T	A	5: 143,714,644	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,839,598	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,478,050	L164R	probably damaging	Het
Vwa8	G	T	14: 79,183,061	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,169,832	R117L	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
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
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'- TCTTCTGCAGCATCTGAGGG -3'
(R):5'- TGCAACTGTTGGGAATGTCAG -3'

Sequencing Primer
(F):5'- CAGCATCTGAGGGTTCAATGTCC -3'
(R):5'- AATGTCAGTCTGTAGGGCCC -3'

Posted On

2019-06-07