Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03173:Ssxa1'

411915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssxa1

Ensembl Gene

ENSMUSG00000062814

Gene Name

SSX member A1

Synonyms

LOC385338

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.043) question?

Stock #

IGL03173

Quality Score

Status

Chromosome

Chromosomal Location

20984653-20988327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20985224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 41 (R41C)

Ref Sequence

ENSEMBL: ENSMUSP00000122221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072593] [ENSMUST00000133987]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072593
AA Change: R41C

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072395
Gene: ENSMUSG00000062814
AA Change: R41C

Domain	Start	End	E-Value	Type
KRAB	22	81	4.57e-9	SMART
Pfam:SSXRD	93	123	7.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133987
AA Change: R41C

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122221
Gene: ENSMUSG00000062814
AA Change: R41C

Domain	Start	End	E-Value	Type
KRAB	22	81	4.57e-9	SMART
Pfam:SSXRD	99	122	6.4e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	T	C	12: 105,624,553 (GRCm39)	K649E	possibly damaging	Het
Cnnm4	A	G	1: 36,512,173 (GRCm39)		probably benign	Het
Cntrob	C	T	11: 69,200,853 (GRCm39)	A503T	possibly damaging	Het
D3Ertd751e	T	A	3: 41,710,497 (GRCm39)	Y170N	probably damaging	Het
Ddx23	T	C	15: 98,548,885 (GRCm39)	I306V	probably benign	Het
Ep400	A	G	5: 110,856,737 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hivep2	G	T	10: 14,003,726 (GRCm39)	G108V	possibly damaging	Het
Irgc	T	C	7: 24,132,727 (GRCm39)	E30G	probably damaging	Het
Krt75	T	C	15: 101,481,162 (GRCm39)	Y204C	probably damaging	Het
Ms4a14	G	A	19: 11,281,560 (GRCm39)	L333F	possibly damaging	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or5an6	T	A	19: 12,372,410 (GRCm39)	M261K	possibly damaging	Het
Or8k27	A	T	2: 86,275,788 (GRCm39)	C179*	probably null	Het
Pitpnm3	G	A	11: 71,983,389 (GRCm39)	T80I	probably benign	Het
Pou2f2	T	C	7: 24,799,371 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,561,089 (GRCm39)	L518P	probably damaging	Het
Sorbs1	T	A	19: 40,351,706 (GRCm39)	T235S	probably damaging	Het
Syt2	A	G	1: 134,671,317 (GRCm39)	N142D	possibly damaging	Het
Taf3	A	G	2: 9,957,738 (GRCm39)	V143A	probably damaging	Het
Trav13-5	T	C	14: 54,033,534 (GRCm39)		probably benign	Het
Tti1	A	G	2: 157,848,932 (GRCm39)		probably benign	Het
Vmn2r13	T	C	5: 109,319,645 (GRCm39)	E445G	possibly damaging	Het
Zfp663	G	T	2: 165,194,419 (GRCm39)	T600K	probably damaging	Het
Zfp750	G	A	11: 121,404,651 (GRCm39)	Q75*	probably null	Het

Other mutations in Ssxa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Ssxa1	APN	X	20,987,394 (GRCm39)	missense	unknown
R2130:Ssxa1	UTSW	X	20,985,581 (GRCm39)	splice site	probably benign

Posted On

2016-08-02