Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Spats2l'

153471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spats2l

Ensembl Gene

ENSMUSG00000038305

Gene Name

spermatogenesis associated, serine-rich 2-like

Synonyms

A230104H11Rik, 2810022L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

57774162-57948394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57879556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 30 (V30L)

Ref Sequence

ENSEMBL: ENSMUSP00000127598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000167971] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068] [ENSMUST00000172287]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000163239

SMART Domains

Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305

Domain	Start	End	E-Value	Type
Pfam:DUF1387	1	261	9.7e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164302
AA Change: V30L

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

SMART Domains

Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: V30L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	149	3.6e-25	PFAM
Pfam:DUF1387	146	299	1.6e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167085
AA Change: V50L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: V50L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	388	1.8e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167971
AA Change: V50L

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: V50L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	130	4.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168905

Predicted Effect

probably damaging
Transcript: ENSMUST00000169772
AA Change: V30L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: V30L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170139
AA Change: V30L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: V30L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171699
AA Change: V50L

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: V50L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	169	1.2e-25	PFAM
Pfam:DUF1387	167	270	2e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172068
AA Change: V50L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: V50L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	244	5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172287
AA Change: V50L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305
AA Change: V50L

Domain	Start	End	E-Value	Type
low complexity region	84	96	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,010,819	D860G	possibly damaging	Het
Acot7	T	C	4: 152,217,793	C121R	probably damaging	Het
Adam19	A	T	11: 46,112,924	H193L	probably benign	Het
AI661453	T	A	17: 47,466,623		probably benign	Het
Bod1l	T	C	5: 41,826,610		probably benign	Het
Brd4	T	C	17: 32,212,829		probably benign	Het
Capn12	G	A	7: 28,886,623		probably null	Het
Cdh18	A	G	15: 23,474,183	Q713R	probably benign	Het
Cfap52	A	T	11: 67,953,580	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846	T475S	probably damaging	Het
Fat2	A	T	11: 55,296,209	D1270E	probably damaging	Het
Hfm1	T	C	5: 106,904,793	K275E	probably damaging	Het
Ift172	T	C	5: 31,280,714	D426G	probably benign	Het
Mrc1	T	C	2: 14,238,248	S62P	probably damaging	Het
Olfr275	G	T	4: 52,825,468	E24*	probably null	Het
Olfr914	T	A	9: 38,607,293	I276K	probably damaging	Het
Ptgs2	A	T	1: 150,101,989		probably null	Het
Rxfp1	T	A	3: 79,652,216	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,303,215		probably benign	Het
Serpinb13	T	G	1: 107,000,754	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,541,461	S80R	probably damaging	Het
Stat1	A	G	1: 52,136,921	E195G	probably damaging	Het
Tbx5	T	A	5: 119,844,958		probably benign	Het
Tmem165	A	G	5: 76,204,163	T164A	probably damaging	Het
Trim66	A	T	7: 109,486,045		probably null	Het
Trip10	T	A	17: 57,261,409	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,152,013	C28*	probably null	Het
Wdr60	G	A	12: 116,218,798	P728L	possibly damaging	Het
Zbtb8a	C	T	4: 129,357,847	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,979,526	F1705S	probably damaging	Het

Other mutations in Spats2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Spats2l	APN	1	57943072	missense	probably damaging	1.00
IGL00788:Spats2l	APN	1	57885705	missense	probably damaging	1.00
IGL01627:Spats2l	APN	1	57902082	splice site	probably benign
IGL03395:Spats2l	APN	1	57938016	missense	probably damaging	1.00
P0033:Spats2l	UTSW	1	57885838	missense	probably damaging	0.99
R0762:Spats2l	UTSW	1	57885884	missense	possibly damaging	0.88
R1167:Spats2l	UTSW	1	57943111	missense	probably damaging	1.00
R1486:Spats2l	UTSW	1	57900811	missense	probably damaging	0.99
R1564:Spats2l	UTSW	1	57946224	missense	probably damaging	1.00
R1938:Spats2l	UTSW	1	57885782	missense	probably benign	0.32
R2071:Spats2l	UTSW	1	57940464	missense	possibly damaging	0.90
R2096:Spats2l	UTSW	1	57946299	missense	probably benign	0.00
R2215:Spats2l	UTSW	1	57946416	missense	possibly damaging	0.82
R3053:Spats2l	UTSW	1	57900766	missense	probably damaging	1.00
R3784:Spats2l	UTSW	1	57885779	missense	probably damaging	0.99
R4814:Spats2l	UTSW	1	57937926	missense	possibly damaging	0.83
R4915:Spats2l	UTSW	1	57902188	missense	probably damaging	1.00
R4962:Spats2l	UTSW	1	57885824	missense	possibly damaging	0.88
R5022:Spats2l	UTSW	1	57879556	missense	probably damaging	1.00
R5068:Spats2l	UTSW	1	57943221	missense	probably benign
R5561:Spats2l	UTSW	1	57900621	splice site	probably null
R5773:Spats2l	UTSW	1	57879549	missense	possibly damaging	0.86
R5885:Spats2l	UTSW	1	57946162	missense	probably damaging	0.96
R6136:Spats2l	UTSW	1	57902143	missense	probably damaging	1.00
R6651:Spats2l	UTSW	1	57946177	missense	probably damaging	1.00
R6929:Spats2l	UTSW	1	57879536	missense	probably damaging	1.00
R7030:Spats2l	UTSW	1	57879530	missense	probably damaging	1.00
R7176:Spats2l	UTSW	1	57937918	missense	possibly damaging	0.89
R7274:Spats2l	UTSW	1	57879513	nonsense	probably null
R7342:Spats2l	UTSW	1	57885947	missense	possibly damaging	0.91
R7387:Spats2l	UTSW	1	57902134	missense	probably damaging	1.00
R7459:Spats2l	UTSW	1	57799353	splice site	probably benign
R9239:Spats2l	UTSW	1	57832098	start gained	probably benign
X0054:Spats2l	UTSW	1	57943243	critical splice donor site	probably null

Posted On

2014-02-04