Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Sp3'

675636

Institutional Source

Beutler Lab

Gene Symbol

Sp3

Ensembl Gene

ENSMUSG00000027109

Gene Name

trans-acting transcription factor 3

Synonyms

D130027J01Rik

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72766774-72810790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72801630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 172 (Y172N)

Ref Sequence

ENSEMBL: ENSMUSP00000099750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066003] [ENSMUST00000102689] [ENSMUST00000112062]

AlphaFold

O70494

Predicted Effect

probably damaging
Transcript: ENSMUST00000066003
AA Change: Y128N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: Y128N

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

probably damaging
Transcript: ENSMUST00000102689
AA Change: Y172N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: Y172N

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

probably benign
Transcript: ENSMUST00000112062

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Aox3	T	A	1: 58,189,460 (GRCm39)	I387K	probably benign	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,544,749 (GRCm39)	D371V	probably damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
Gnmt	G	A	17: 47,037,618 (GRCm39)	T120M	probably damaging	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pfn4	T	A	12: 4,825,456 (GRCm39)	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,704,580 (GRCm39)	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	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
R1435:Sp3	UTSW	2	72,768,500 (GRCm39)	missense	possibly damaging	0.86
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
Z1176:Sp3	UTSW	2	72,800,511 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGAGCCACCAATTGCAACTC -3'
(R):5'- GGAGGTTTTGTCAGCTACACC -3'

Sequencing Primer
(F):5'- AACTCCCTGAACCTGGACTTG -3'
(R):5'- GAGGTTTTGTCAGCTACACCTACAAC -3'

Posted On

2021-07-15