Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:Spats2'

89510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spats2

Ensembl Gene

ENSMUSG00000051934

Gene Name

spermatogenesis associated, serine-rich 2

Synonyms

Scr59, 59kDa, 2700012F11Rik, p59

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

99125916-99213215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99212246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 508 (A508V)

Ref Sequence

ENSEMBL: ENSMUSP00000070549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063517]

AlphaFold

Q8K1N4

Predicted Effect

probably benign
Transcript: ENSMUST00000063517
AA Change: A508V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: A508V

Domain	Start	End	E-Value	Type
Pfam:DUF1387	81	385	8.1e-125	PFAM
low complexity region	391	413	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	possibly damaging	Het

Other mutations in Spats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Spats2	APN	15	99180593	missense	possibly damaging	0.88
IGL00696:Spats2	APN	15	99210894	missense	probably damaging	1.00
IGL02496:Spats2	APN	15	99173448	missense	probably damaging	1.00
IGL03031:Spats2	APN	15	99180688	missense	probably benign	0.00
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0630:Spats2	UTSW	15	99186028	splice site	probably null
R1577:Spats2	UTSW	15	99178452	missense	possibly damaging	0.94
R2012:Spats2	UTSW	15	99178494	missense	probably damaging	0.97
R2229:Spats2	UTSW	15	99174453	critical splice donor site	probably null
R2982:Spats2	UTSW	15	99211046	missense	probably benign
R3743:Spats2	UTSW	15	99210914	missense	probably benign	0.09
R4679:Spats2	UTSW	15	99180722	missense	possibly damaging	0.62
R4857:Spats2	UTSW	15	99174420	missense	probably damaging	1.00
R4962:Spats2	UTSW	15	99212276	missense	probably benign	0.00
R5291:Spats2	UTSW	15	99178541	missense	probably benign	0.16
R6879:Spats2	UTSW	15	99173412	missense	probably damaging	1.00
R7187:Spats2	UTSW	15	99212173	missense	probably benign	0.02
R7476:Spats2	UTSW	15	99212141	missense	probably benign	0.00
R8084:Spats2	UTSW	15	99167080	missense	possibly damaging	0.94
R8239:Spats2	UTSW	15	99208895	missense	probably damaging	1.00
R8338:Spats2	UTSW	15	99178459	missense	probably damaging	1.00
R8979:Spats2	UTSW	15	99212242	missense	possibly damaging	0.92
R9013:Spats2	UTSW	15	99199247	missense	probably damaging	1.00
R9050:Spats2	UTSW	15	99212129	missense	possibly damaging	0.78
R9433:Spats2	UTSW	15	99178565	nonsense	probably null
X0062:Spats2	UTSW	15	99178532	nonsense	probably null

Posted On

2013-12-03