Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03200:Thegl'

412953

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thegl

Ensembl Gene

ENSMUSG00000029248

Gene Name

theg spermatid protein like

Synonyms

1700023E05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

77016023-77061529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77060864 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 413 (V413D)

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031161
AA Change: V413D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: V413D

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117880
AA Change: V413D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: V413D

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,965,254		probably benign	Het
Degs1	A	T	1: 182,279,691	M1K	probably null	Het
Eif3e	A	T	15: 43,252,261	W370R	probably damaging	Het
H2-M10.6	G	A	17: 36,814,016	G275E	probably damaging	Het
Itga8	C	T	2: 12,191,199	V647I	probably benign	Het
Kcnip2	T	G	19: 45,794,063	K190Q	probably damaging	Het
Mbd1	T	G	18: 74,276,431	S251A	probably benign	Het
Mcpt9	T	A	14: 56,026,933	H235L	probably benign	Het
Ndst1	A	T	18: 60,699,539	I573N	possibly damaging	Het
Ntan1	C	T	16: 13,834,727	P229L	probably damaging	Het
Rbl2	T	C	8: 91,096,767	I441T	probably benign	Het
Sulf1	C	T	1: 12,786,617	R31*	probably null	Het
Taok1	G	A	11: 77,575,652	Q124*	probably null	Het
Tmem140	A	G	6: 34,872,879	E110G	possibly damaging	Het
U2surp	G	A	9: 95,491,391	R242*	probably null	Het
Ywhag	G	A	5: 135,911,060	R227*	probably null	Het
Zfp456	C	T	13: 67,366,477	R370H	probably benign	Het

Other mutations in Thegl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Thegl	APN	5	77060831	missense	probably damaging	1.00
IGL02008:Thegl	APN	5	77060758	missense	probably benign	0.01
IGL02014:Thegl	APN	5	77047155	missense	probably damaging	0.99
IGL02525:Thegl	APN	5	77016553	missense	probably benign	0.08
IGL03036:Thegl	APN	5	77016350	missense	possibly damaging	0.86
IGL03302:Thegl	APN	5	77054576	missense	probably benign	0.09
R0242:Thegl	UTSW	5	77016305	nonsense	probably null
R0242:Thegl	UTSW	5	77016305	nonsense	probably null
R0483:Thegl	UTSW	5	77037357	splice site	probably benign
R1875:Thegl	UTSW	5	77054584	missense	probably benign	0.29
R2121:Thegl	UTSW	5	77060758	missense	probably benign	0.01
R2232:Thegl	UTSW	5	77059405	missense	possibly damaging	0.84
R2280:Thegl	UTSW	5	77059367	missense	probably damaging	1.00
R2281:Thegl	UTSW	5	77059367	missense	probably damaging	1.00
R4422:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4423:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4424:Thegl	UTSW	5	77054536	missense	possibly damaging	0.91
R4935:Thegl	UTSW	5	77037353	critical splice donor site	probably null
R5041:Thegl	UTSW	5	77056081	missense	probably benign	0.05
R5175:Thegl	UTSW	5	77016470	missense	probably benign	0.00
R5560:Thegl	UTSW	5	77016486	missense	possibly damaging	0.61
R6086:Thegl	UTSW	5	77061305	missense	probably benign	0.11
R6193:Thegl	UTSW	5	77016336	missense	possibly damaging	0.85
R7070:Thegl	UTSW	5	77047277	critical splice donor site	probably null
R7453:Thegl	UTSW	5	77060786	missense	probably damaging	1.00
R7703:Thegl	UTSW	5	77016597	missense	probably benign	0.34
RF007:Thegl	UTSW	5	77016408	small insertion	probably benign
RF010:Thegl	UTSW	5	77016427	small insertion	probably benign
RF014:Thegl	UTSW	5	77016400	small insertion	probably benign
RF016:Thegl	UTSW	5	77016408	small insertion	probably benign
RF020:Thegl	UTSW	5	77016400	small insertion	probably benign
RF028:Thegl	UTSW	5	77016401	small insertion	probably benign
RF030:Thegl	UTSW	5	77016401	small insertion	probably benign
RF031:Thegl	UTSW	5	77016410	small insertion	probably benign
RF033:Thegl	UTSW	5	77016405	small insertion	probably benign
RF033:Thegl	UTSW	5	77016429	small insertion	probably benign
RF036:Thegl	UTSW	5	77016429	small insertion	probably benign
RF037:Thegl	UTSW	5	77016421	small insertion	probably benign
RF039:Thegl	UTSW	5	77016402	small insertion	probably benign
RF044:Thegl	UTSW	5	77016405	small insertion	probably benign
RF046:Thegl	UTSW	5	77016403	small insertion	probably benign
RF055:Thegl	UTSW	5	77016403	small insertion	probably benign
RF060:Thegl	UTSW	5	77016427	small insertion	probably benign
RF063:Thegl	UTSW	5	77016426	small insertion	probably benign
RF064:Thegl	UTSW	5	77016415	small insertion	probably benign
Z1176:Thegl	UTSW	5	77060794	missense	probably damaging	0.96

Posted On

2016-08-02