Mutagenetix > Incidental Mutation

Incidental Mutation 'R4244:Sp5'

320331

Institutional Source

Beutler Lab

Gene Symbol

Sp5

Ensembl Gene

ENSMUSG00000075304

Gene Name

trans-acting transcription factor 5

Synonyms

MMRRC Submission

041060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70305267-70308070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70307382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 356 (F356L)

Ref Sequence

ENSEMBL: ENSMUSP00000097620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100043]

AlphaFold

Q9JHX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000100043
AA Change: F356L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097620
Gene: ENSMUSG00000075304
AA Change: F356L

Domain	Start	End	E-Value	Type
low complexity region	143	157	N/A	INTRINSIC
low complexity region	191	211	N/A	INTRINSIC
low complexity region	224	235	N/A	INTRINSIC
low complexity region	265	294	N/A	INTRINSIC
ZnF_C2H2	296	320	2.14e0	SMART
ZnF_C2H2	326	350	1.4e-4	SMART
ZnF_C2H2	356	378	3.21e-4	SMART

Meta Mutation Damage Score

0.5492

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (47/48)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation in this gene are fertile and show no overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
Ap1g1	G	A	8: 110,560,122 (GRCm39)	S281N	probably benign	Het
Arfgef3	C	A	10: 18,506,168 (GRCm39)	G878V	probably damaging	Het
Ccdc137	T	C	11: 120,352,844 (GRCm39)	F196S	probably damaging	Het
Ccdc18	C	T	5: 108,296,838 (GRCm39)	Q214*	probably null	Het
Ccrl2	T	C	9: 110,884,422 (GRCm39)	I359V	probably benign	Het
Cdh20	C	T	1: 104,869,868 (GRCm39)	T196I	probably damaging	Het
Cfap20dc	T	C	14: 8,482,521 (GRCm38)	T551A	probably benign	Het
Col6a3	G	T	1: 90,714,361 (GRCm39)	T1683K	unknown	Het
Copa	A	G	1: 171,938,285 (GRCm39)	I524V	probably benign	Het
Cyld	A	T	8: 89,457,383 (GRCm39)	R536*	probably null	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Dock5	A	G	14: 68,012,031 (GRCm39)	F1348L	probably benign	Het
Efcab3	A	T	11: 105,002,629 (GRCm39)	K5664I	probably damaging	Het
Gm5174	C	A	10: 86,492,144 (GRCm39)		noncoding transcript	Het
Gm9892	A	T	8: 52,649,435 (GRCm39)		noncoding transcript	Het
Grm4	A	G	17: 27,721,709 (GRCm39)	I144T	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Krt28	G	T	11: 99,265,376 (GRCm39)	S97Y	probably damaging	Het
Map3k6	T	C	4: 132,979,258 (GRCm39)	Y1204H	possibly damaging	Het
Mfsd2b	G	T	12: 4,924,356 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,605,157 (GRCm39)	D972G	probably damaging	Het
Or2ak6	T	G	11: 58,593,277 (GRCm39)	L250R	probably damaging	Het
Or2y3	C	T	17: 38,393,321 (GRCm39)	V183I	probably benign	Het
Or5d39	T	C	2: 87,979,632 (GRCm39)	T244A	probably benign	Het
Prex1	G	A	2: 166,412,256 (GRCm39)	R392W	probably damaging	Het
Ptpn5	C	T	7: 46,741,296 (GRCm39)	W38*	probably null	Het
Rab3gap1	T	C	1: 127,865,304 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Scn7a	T	C	2: 66,572,345 (GRCm39)	I209V	probably benign	Het
Sh3d21	C	T	4: 126,044,511 (GRCm39)		probably benign	Het
Slc27a1	A	G	8: 72,037,617 (GRCm39)	T535A	probably benign	Het
Slc5a5	A	G	8: 71,342,930 (GRCm39)	V210A	probably benign	Het
Snx25	A	G	8: 46,558,291 (GRCm39)	C239R	probably damaging	Het
Spaca9	T	C	2: 28,582,998 (GRCm39)	I141V	probably benign	Het
Tbcd	T	A	11: 121,485,107 (GRCm39)	L763H	probably damaging	Het
Thnsl1	A	G	2: 21,217,059 (GRCm39)	E271G	probably benign	Het
Vmn1r79	T	A	7: 11,910,971 (GRCm39)	C284*	probably null	Het
Vwa5a	T	C	9: 38,649,112 (GRCm39)		probably benign	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zscan29	C	T	2: 120,995,275 (GRCm39)		probably null	Het

Other mutations in Sp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02083:Sp5	APN	2	70,306,758 (GRCm39)	missense	possibly damaging	0.70
R1297:Sp5	UTSW	2	70,306,873 (GRCm39)	missense	probably benign	0.40
R1857:Sp5	UTSW	2	70,307,213 (GRCm39)	missense	possibly damaging	0.68
R5943:Sp5	UTSW	2	70,305,659 (GRCm39)	missense	probably null	0.00
R7072:Sp5	UTSW	2	70,307,074 (GRCm39)	missense	probably benign	0.09
R7341:Sp5	UTSW	2	70,307,041 (GRCm39)	nonsense	probably null
R8911:Sp5	UTSW	2	70,306,962 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGAAGCAACACGTGTGCC -3'
(R):5'- ATGGCAAGTACCCTGGTGTG -3'

Sequencing Primer
(F):5'- GTGTGCCACGTGCCAGG -3'
(R):5'- TGGTGTGCCAGCAAAGGTG -3'

Posted On

2015-06-12