Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03129:Sp9'

410252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sp9

Ensembl Gene

ENSMUSG00000068859

Gene Name

trans-acting transcription factor 9

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

IGL03129

Quality Score

Status

Chromosome

Chromosomal Location

73271925-73284706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73273521 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 140 (T140A)

Ref Sequence

ENSEMBL: ENSMUSP00000088322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090813]

Predicted Effect

probably benign
Transcript: ENSMUST00000090813
AA Change: T140A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: T140A

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
low complexity region	71	88	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	268	306	N/A	INTRINSIC
ZnF_C2H2	332	356	2.63e0	SMART
ZnF_C2H2	362	386	1.84e-4	SMART
ZnF_C2H2	392	414	5.99e-4	SMART
low complexity region	416	427	N/A	INTRINSIC
low complexity region	452	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147133

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,379	V403A	probably damaging	Het
Adpgk	T	C	9: 59,313,805	L298P	probably damaging	Het
Akap6	A	T	12: 53,140,306	D1501V	probably damaging	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Ankhd1	T	A	18: 36,658,008	Y2478*	probably null	Het
Col6a3	A	G	1: 90,821,862	Y417H	probably damaging	Het
Csmd1	A	G	8: 15,961,521	F2511L	probably damaging	Het
Dzip3	T	C	16: 48,942,083	M602V	possibly damaging	Het
Efna2	G	A	10: 80,188,512		probably null	Het
Fzd8	T	C	18: 9,214,270	S451P	probably damaging	Het
Galntl6	A	T	8: 58,427,716	D134E	probably damaging	Het
Gm10334	T	C	6: 41,443,498	N98S	probably benign	Het
Grid2	T	C	6: 64,063,904	S277P	probably damaging	Het
Lcn2	A	G	2: 32,387,704	V91A	possibly damaging	Het
Lrp1b	G	A	2: 41,312,466		probably benign	Het
Lrrc7	T	A	3: 158,161,059	Y1015F	probably benign	Het
Mdn1	T	A	4: 32,729,994	C2779S	possibly damaging	Het
Nlrp10	A	T	7: 108,924,911	F454Y	probably damaging	Het
Obox5	T	A	7: 15,758,759	L213Q	probably damaging	Het
Olfr97	T	A	17: 37,232,196	Y58F	probably damaging	Het
Piezo2	T	C	18: 63,114,972	M486V	probably benign	Het
Plcg1	A	C	2: 160,774,526		probably null	Het
Polr1b	G	A	2: 129,115,707	V561I	probably benign	Het
Polr3c	A	T	3: 96,719,454		probably benign	Het
Prkg1	T	A	19: 30,585,281	K523*	probably null	Het
Sema3b	T	A	9: 107,599,796		probably benign	Het
Zfp507	T	C	7: 35,794,206	R471G	probably damaging	Het

Other mutations in Sp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0604:Sp9	UTSW	2	73273638	missense	probably benign	0.00
R0718:Sp9	UTSW	2	73273827	missense	possibly damaging	0.70
R3423:Sp9	UTSW	2	73273971	missense	probably benign	0.00
R3747:Sp9	UTSW	2	73274308	missense	probably damaging	0.98
R4335:Sp9	UTSW	2	73274289	missense	probably damaging	1.00
R4873:Sp9	UTSW	2	73273618	missense	possibly damaging	0.86
R4875:Sp9	UTSW	2	73273618	missense	possibly damaging	0.86
R5341:Sp9	UTSW	2	73274514	missense	possibly damaging	0.92
R5389:Sp9	UTSW	2	73274297	missense	probably damaging	0.99
R5891:Sp9	UTSW	2	73274251	missense	probably damaging	1.00
R6938:Sp9	UTSW	2	73273272	missense	probably damaging	0.99
R7092:Sp9	UTSW	2	73273771	missense	probably damaging	0.99
R7699:Sp9	UTSW	2	73273380	missense	probably damaging	0.98
R8336:Sp9	UTSW	2	73274452	missense	possibly damaging	0.86
Z1088:Sp9	UTSW	2	73273230	missense	possibly damaging	0.94
Z1176:Sp9	UTSW	2	73273456	missense	probably damaging	0.98

Posted On

2016-08-02