Mutagenetix > Incidental Mutation

Incidental Mutation 'R4478:Sdad1'

331348

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

041735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4478 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92284010-92310479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92297160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 315 (M315T)

Ref Sequence

ENSEMBL: ENSMUSP00000144446 (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: M316T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: M316T

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: ENSMUST00000201084

Predicted Effect

probably damaging
Transcript: ENSMUST00000201143
AA Change: M315T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: M315T

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: ENSMUST00000202604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202903

Meta Mutation Damage Score

0.4888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

94% (46/49)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,975,860		probably null	Het
Adam3	T	C	8: 24,695,155	D509G	probably benign	Het
Ank1	C	T	8: 23,120,578	T1379I	probably benign	Het
Ap1m2	A	G	9: 21,298,213	V389A	probably benign	Het
Cdh15	A	G	8: 122,864,676	H517R	probably benign	Het
Chd9	T	C	8: 91,034,031		probably benign	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cpne5	T	C	17: 29,209,476	T118A	probably damaging	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dag1	G	C	9: 108,208,730	T404R	probably damaging	Het
Dnah3	T	G	7: 120,071,863	H599P	probably benign	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Fabp9	T	C	3: 10,197,106	Y30C	probably damaging	Het
Fnbp1	G	A	2: 31,105,254	A56V	probably damaging	Het
Gm20498	T	C	12: 81,489,216		probably benign	Het
Hid1	G	A	11: 115,361,655	A67V	probably damaging	Het
Il6ra	T	A	3: 89,890,290	Y90F	probably damaging	Het
Kcnk18	T	C	19: 59,235,244	S274P	probably damaging	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Lrrk2	G	A	15: 91,723,188	A585T	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo9b	A	T	8: 71,291,081	K262M	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1100	G	T	2: 86,978,218	R193S	probably benign	Het
Olfr433	C	T	1: 174,042,616	T222I	probably benign	Het
Olfr779	C	T	10: 129,311,776	L90F	possibly damaging	Het
Plxna4	A	T	6: 32,196,133	C1288S	possibly damaging	Het
Ptpn22	T	C	3: 103,902,064		probably benign	Het
Rab11fip3	C	T	17: 26,016,083	E619K	probably damaging	Het
Robo2	C	A	16: 74,015,873	R311L	probably damaging	Het
Slc39a12	T	A	2: 14,420,179	L407*	probably null	Het
Snap29	T	C	16: 17,428,155	V213A	probably benign	Het
Stard7	T	A	2: 127,284,259	L77Q	probably damaging	Het
Stat5b	A	G	11: 100,787,284	Y668H	probably benign	Het
Tgfb2	A	G	1: 186,632,499	I266T	probably damaging	Het
Tmem87a	C	T	2: 120,369,343	W440*	probably null	Het
Tnr	T	A	1: 159,884,756		probably null	Het
Ubl3	C	T	5: 148,511,977	S18N	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r9	T	C	5: 108,846,277	E502G	probably benign	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Vwa8	T	A	14: 78,868,801	D61E	probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp1	A	G	8: 111,670,543	R366G	probably damaging	Het
Zfp282	A	T	6: 47,890,696	R269*	probably null	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
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'- GATAAAAGCAGCTGCCTTCAG -3'
(R):5'- TTTGCACCGCTAGGACTTTGC -3'

Sequencing Primer
(F):5'- CTTCAGAAGGATAGGCTGCACTTG -3'
(R):5'- GCTGTCCCTTCCCCTGGG -3'

Posted On

2015-07-21