Mutagenetix > Incidental Mutation

Incidental Mutation 'R1435:Sp3'

159426

Institutional Source

Beutler Lab

Gene Symbol

Sp3

Ensembl Gene

ENSMUSG00000027109

Gene Name

trans-acting transcription factor 3

Synonyms

D130027J01Rik

MMRRC Submission

039490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72766774-72810790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72768500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 754 (N754K)

Ref Sequence

ENSEMBL: ENSMUSP00000099750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066003] [ENSMUST00000102689]

AlphaFold

O70494

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066003
AA Change: N710K

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: N710K

Domain	Start	End	E-Value	Type
low complexity region	14	59	N/A	INTRINSIC
low complexity region	188	201	N/A	INTRINSIC
low complexity region	231	241	N/A	INTRINSIC
low complexity region	387	402	N/A	INTRINSIC
low complexity region	425	448	N/A	INTRINSIC
ZnF_C2H2	579	603	1.86e0	SMART
ZnF_C2H2	609	633	7.37e-4	SMART
ZnF_C2H2	639	661	5.99e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102689
AA Change: N754K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: N754K

Domain	Start	End	E-Value	Type
low complexity region	20	51	N/A	INTRINSIC
low complexity region	73	95	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	431	446	N/A	INTRINSIC
low complexity region	469	492	N/A	INTRINSIC
ZnF_C2H2	623	647	1.86e0	SMART
ZnF_C2H2	653	677	7.37e-4	SMART
ZnF_C2H2	683	705	5.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133615

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene product belongs to a family of Sp1 related transcription factors, which regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses transcription of numerous genes. Alternative splicing results in transcript variants encoding different isoforms, and one variant initiates translation from a non-AUG (AUA) codon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a reduced birth body size, skeletal, tooth and hematopoietic defects, and die shortly after birth due to respiratory failure. Homozygous mutant mice bearing a subtle point mutation in the SUMO attachment site show loss of DNAmethylation in sumoylation-deficient MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	G	11: 69,905,642 (GRCm39)	T62P	probably benign	Het
Amz1	A	T	5: 140,733,921 (GRCm39)	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,882,236 (GRCm39)	Q518R	probably benign	Het
Aox3	G	A	1: 58,202,605 (GRCm39)		probably null	Het
Arid1a	C	T	4: 133,408,009 (GRCm39)	R2166Q	unknown	Het
Asb4	T	G	6: 5,398,410 (GRCm39)	I125S	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
Atxn3	A	G	12: 101,908,460 (GRCm39)	F131L	probably benign	Het
B3gnt5	T	A	16: 19,587,924 (GRCm39)	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,276,453 (GRCm39)	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,311,267 (GRCm39)	D79E	probably damaging	Het
Cemip2	A	T	19: 21,822,070 (GRCm39)	Q1155L	probably benign	Het
Chd2	C	T	7: 73,102,884 (GRCm39)	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,561,358 (GRCm39)	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,947,711 (GRCm39)	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026 (GRCm39)	I183V	probably benign	Het
Col7a1	G	A	9: 108,792,341 (GRCm39)	G1297D	unknown	Het
Csnk1g3	G	A	18: 54,039,746 (GRCm39)		probably null	Het
Cyp4a32	A	T	4: 115,463,863 (GRCm39)	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dst	G	A	1: 34,153,026 (GRCm39)	V56M	probably damaging	Het
Engase	A	T	11: 118,375,727 (GRCm39)	T32S	probably damaging	Het
Fam117b	T	C	1: 60,008,222 (GRCm39)	I352T	possibly damaging	Het
Golga4	C	A	9: 118,364,508 (GRCm39)	D290E	probably benign	Het
Gtf2a1l	C	A	17: 89,001,743 (GRCm39)	H153N	probably damaging	Het
Hivep1	C	A	13: 42,311,519 (GRCm39)	T1253N	probably damaging	Het
Hps1	T	C	19: 42,750,714 (GRCm39)	S398G	probably benign	Het
Il1r2	T	A	1: 40,144,459 (GRCm39)	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,649,006 (GRCm39)	S808P	probably damaging	Het
Lrrk1	A	G	7: 65,922,776 (GRCm39)	L289P	probably damaging	Het
Magi2	T	A	5: 20,563,943 (GRCm39)	D358E	probably damaging	Het
Man2b2	A	G	5: 36,970,411 (GRCm39)	W832R	probably damaging	Het
Mfsd4a	G	T	1: 131,995,494 (GRCm39)	T46K	probably damaging	Het
N4bp3	G	A	11: 51,535,167 (GRCm39)	R341W	probably damaging	Het
Odad2	T	A	18: 7,222,646 (GRCm39)	H541L	probably benign	Het
Or51f2	T	C	7: 102,526,974 (GRCm39)	S216P	probably damaging	Het
Or8s5	A	T	15: 98,238,209 (GRCm39)	H220Q	possibly damaging	Het
Otof	A	G	5: 30,536,039 (GRCm39)	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,541,246 (GRCm39)	C844*	probably null	Het
Pdk2	T	C	11: 94,922,721 (GRCm39)	Y153C	probably damaging	Het
Pes1	T	C	11: 3,926,075 (GRCm39)	V292A	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pnpla2	G	A	7: 141,037,324 (GRCm39)	R109H	probably benign	Het
Polh	G	A	17: 46,505,181 (GRCm39)	T145I	probably damaging	Het
Polr3d	A	T	14: 70,677,479 (GRCm39)	V299E	probably benign	Het
Polr3e	C	T	7: 120,540,011 (GRCm39)	T586M	probably benign	Het
Rbm20	T	A	19: 53,802,588 (GRCm39)	F365L	probably benign	Het
Resf1	A	G	6: 149,227,580 (GRCm39)	T209A	probably benign	Het
Rnf213	G	T	11: 119,326,831 (GRCm39)	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 126,195,464 (GRCm39)	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,463,603 (GRCm39)	M451K	probably damaging	Het
Slc28a1	T	C	7: 80,803,265 (GRCm39)	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,728,505 (GRCm39)	F99L	probably damaging	Het
Taf4b	A	T	18: 14,940,466 (GRCm39)	Q315L	probably damaging	Het
Tcstv2a	T	A	13: 120,725,524 (GRCm39)	W63R	probably damaging	Het
Tmprss15	A	T	16: 78,818,342 (GRCm39)	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,085,358 (GRCm39)	I283V	probably benign	Het
Tnfsf14	T	A	17: 57,497,605 (GRCm39)	E209V	possibly damaging	Het
Uckl1	T	G	2: 181,214,926 (GRCm39)	S283R	probably benign	Het
Ush1g	T	C	11: 115,209,294 (GRCm39)	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621 (GRCm39)	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r59	A	T	7: 41,695,629 (GRCm39)	M261K	possibly damaging	Het
Vwf	A	T	6: 125,619,212 (GRCm39)	K1297*	probably null	Het
Zdbf2	G	A	1: 63,342,199 (GRCm39)	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,286,830 (GRCm39)	I127S	possibly damaging	Het

Other mutations in Sp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Sp3	APN	2	72,768,406 (GRCm39)	utr 3 prime	probably benign
IGL02457:Sp3	APN	2	72,801,813 (GRCm39)	missense	probably damaging	1.00
R0417:Sp3	UTSW	2	72,801,845 (GRCm39)	missense	possibly damaging	0.57
R0539:Sp3	UTSW	2	72,800,876 (GRCm39)	missense	possibly damaging	0.90
R0685:Sp3	UTSW	2	72,801,342 (GRCm39)	missense	probably damaging	1.00
R1731:Sp3	UTSW	2	72,776,999 (GRCm39)	missense	probably damaging	0.98
R1838:Sp3	UTSW	2	72,768,520 (GRCm39)	missense	possibly damaging	0.66
R2283:Sp3	UTSW	2	72,801,521 (GRCm39)	missense	possibly damaging	0.95
R3892:Sp3	UTSW	2	72,809,376 (GRCm39)	intron	probably benign
R4508:Sp3	UTSW	2	72,800,741 (GRCm39)	missense	probably damaging	1.00
R4668:Sp3	UTSW	2	72,801,325 (GRCm39)	missense	probably damaging	1.00
R4896:Sp3	UTSW	2	72,768,633 (GRCm39)	missense	probably benign	0.18
R5004:Sp3	UTSW	2	72,768,633 (GRCm39)	missense	probably benign	0.18
R5381:Sp3	UTSW	2	72,800,910 (GRCm39)	missense	probably benign	0.17
R5493:Sp3	UTSW	2	72,768,466 (GRCm39)	missense	probably damaging	1.00
R5691:Sp3	UTSW	2	72,801,803 (GRCm39)	missense	probably damaging	1.00
R5755:Sp3	UTSW	2	72,768,725 (GRCm39)	splice site	silent
R6364:Sp3	UTSW	2	72,801,285 (GRCm39)	missense	probably benign	0.00
R6640:Sp3	UTSW	2	72,801,458 (GRCm39)	missense	possibly damaging	0.61
R7197:Sp3	UTSW	2	72,809,953 (GRCm39)	missense	probably benign	0.08
R7699:Sp3	UTSW	2	72,801,573 (GRCm39)	missense	probably benign
R8004:Sp3	UTSW	2	72,800,552 (GRCm39)	missense	possibly damaging	0.52
R8467:Sp3	UTSW	2	72,801,482 (GRCm39)	missense	possibly damaging	0.94
R8503:Sp3	UTSW	2	72,768,645 (GRCm39)	missense	probably benign	0.05
R8861:Sp3	UTSW	2	72,801,630 (GRCm39)	missense	probably damaging	1.00
Z1176:Sp3	UTSW	2	72,800,511 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGCATTTGGTTAGACTACCATTCGCAT -3'
(R):5'- AGAAGTGACCACCTTGCCAAACATATT -3'

Sequencing Primer
(F):5'- GGCATTTCAGTGTCATGTATAACC -3'
(R):5'- GACCACCTTGCCAAACATATTAAAAC -3'

Posted On

2014-03-14