Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02569:Tex9'

298945

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex9

Ensembl Gene

ENSMUSG00000090626

Gene Name

testis expressed gene 9

Synonyms

tsec-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02569

Quality Score

Status

Chromosome

Chromosomal Location

72357676-72399494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72385645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 8 (V8I)

Ref Sequence

ENSEMBL: ENSMUSP00000138929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085358] [ENSMUST00000183574] [ENSMUST00000183856] [ENSMUST00000184125] [ENSMUST00000184557] [ENSMUST00000185151] [ENSMUST00000184831] [ENSMUST00000184312]

AlphaFold

Q9D845

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085358
AA Change: V8I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
AA Change: V8I

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
coiled coil region	186	344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183399

Predicted Effect

probably benign
Transcript: ENSMUST00000183428

Predicted Effect

unknown
Transcript: ENSMUST00000183501
AA Change: V126I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183551

Predicted Effect

probably benign
Transcript: ENSMUST00000183574
AA Change: V207I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626
AA Change: V207I

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
coiled coil region	186	208	N/A	INTRINSIC
coiled coil region	231	286	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183856
AA Change: V207I

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
AA Change: V207I

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
coiled coil region	186	328	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184125
AA Change: V207I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: V207I

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
coiled coil region	186	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184557
AA Change: V207I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
AA Change: V207I

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
coiled coil region	186	280	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185151
AA Change: V8I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000184831
AA Change: V22I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
AA Change: V22I

Domain	Start	End	E-Value	Type
coiled coil region	1	159	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184066

Predicted Effect

probably benign
Transcript: ENSMUST00000184312

SMART Domains

Protein: ENSMUSP00000138844
Gene: ENSMUSG00000090626

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC

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
Abca1	T	C	4: 53,034,061 (GRCm39)	D2223G	probably damaging	Het
Brd1	A	G	15: 88,598,132 (GRCm39)	L538P	probably damaging	Het
Cacna2d2	T	C	9: 107,391,245 (GRCm39)	V424A	probably damaging	Het
Capg	A	C	6: 72,538,032 (GRCm39)	E306A	probably damaging	Het
Cdc14b	T	C	13: 64,373,428 (GRCm39)	Y115C	probably benign	Het
Crat	G	A	2: 30,294,542 (GRCm39)	R509W	probably damaging	Het
Ddx60	A	G	8: 62,477,985 (GRCm39)	N1594S	possibly damaging	Het
Fabp2	T	C	3: 122,689,113 (GRCm39)	F18L	probably damaging	Het
Fam187a	A	G	11: 102,776,985 (GRCm39)	K263R	probably benign	Het
Fam227a	C	T	15: 79,518,323 (GRCm39)	C323Y	probably benign	Het
Fas	A	G	19: 34,297,962 (GRCm39)	E210G	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,569 (GRCm39)	F241S	probably damaging	Het
Gramd1a	A	T	7: 30,829,932 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,573,244 (GRCm39)	M2135K	probably benign	Het
Ikbkb	G	T	8: 23,183,899 (GRCm39)	Q84K	probably damaging	Het
Kcnk9	T	C	15: 72,384,426 (GRCm39)	T251A	probably benign	Het
Mphosph9	C	A	5: 124,435,634 (GRCm39)	E600*	probably null	Het
Or2ag1	T	A	7: 106,313,793 (GRCm39)	I32L	probably benign	Het
Or2ag1b	T	A	7: 106,288,849 (GRCm39)	T30S	probably benign	Het
Pde1a	C	A	2: 79,698,602 (GRCm39)	K341N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Scart2	A	C	7: 139,878,275 (GRCm39)	I885L	probably benign	Het
Slc17a3	A	G	13: 24,030,285 (GRCm39)	Y132C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
St6galnac1	T	C	11: 116,658,528 (GRCm39)	D312G	probably damaging	Het
Tardbp	A	G	4: 148,703,639 (GRCm39)		probably null	Het
Tpr	T	A	1: 150,301,382 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,129 (GRCm39)	W182*	probably null	Het
Vmn2r61	G	A	7: 41,926,070 (GRCm39)	G525E	probably damaging	Het
Zfp111	T	C	7: 23,906,494 (GRCm39)	T2A	possibly damaging	Het

Other mutations in Tex9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Tex9	APN	9	72,385,117 (GRCm39)	missense	probably benign	0.32
IGL01109:Tex9	APN	9	72,395,349 (GRCm39)	missense	probably damaging	1.00
IGL01373:Tex9	APN	9	72,388,036 (GRCm39)	missense	possibly damaging	0.78
IGL02496:Tex9	APN	9	72,389,774 (GRCm39)	missense	probably benign	0.25
barbacoa	UTSW	9	72,394,060 (GRCm39)	critical splice donor site	probably null
R0068:Tex9	UTSW	9	72,394,051 (GRCm39)	splice site	probably benign
R0481:Tex9	UTSW	9	72,385,678 (GRCm39)	nonsense	probably null
R0628:Tex9	UTSW	9	72,399,233 (GRCm39)	start codon destroyed	probably null	0.99
R0962:Tex9	UTSW	9	72,391,374 (GRCm39)	missense	probably benign
R2212:Tex9	UTSW	9	72,385,040 (GRCm39)	missense	possibly damaging	0.89
R3412:Tex9	UTSW	9	72,385,040 (GRCm39)	missense	possibly damaging	0.89
R4373:Tex9	UTSW	9	72,387,877 (GRCm39)	critical splice donor site	probably null
R4972:Tex9	UTSW	9	72,385,620 (GRCm39)	critical splice donor site	probably null
R5323:Tex9	UTSW	9	72,385,187 (GRCm39)	missense	probably damaging	1.00
R5401:Tex9	UTSW	9	72,394,060 (GRCm39)	critical splice donor site	probably null
R6149:Tex9	UTSW	9	72,369,282 (GRCm39)	splice site	probably null
R7396:Tex9	UTSW	9	72,388,072 (GRCm39)	splice site	probably null
R7412:Tex9	UTSW	9	72,394,060 (GRCm39)	critical splice donor site	probably null
R8198:Tex9	UTSW	9	72,387,940 (GRCm39)	start gained	probably benign
R8745:Tex9	UTSW	9	72,389,778 (GRCm39)	missense	probably benign	0.00
R9767:Tex9	UTSW	9	72,368,518 (GRCm39)	nonsense	probably null
X0024:Tex9	UTSW	9	72,387,956 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16