Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Sp3'

424699

Institutional Source

Beutler Lab

Gene Symbol

Sp3

Ensembl Gene

ENSMUSG00000027109

Gene Name

trans-acting transcription factor 3

Synonyms

D130027J01Rik

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72766774-72810790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72800910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 368 (A368S)

Ref Sequence

ENSEMBL: ENSMUSP00000065807 (fasta)

Gene Model

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

AlphaFold

O70494

Predicted Effect

probably benign
Transcript: ENSMUST00000066003
AA Change: A368S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: A368S

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 benign
Transcript: ENSMUST00000102689
AA Change: A412S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: A412S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141372

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,407,034 (GRCm39)	D232E	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il12b	C	A	11: 44,298,699 (GRCm39)	D51E	possibly damaging	Het
Il9r	T	G	11: 32,140,715 (GRCm39)	D435A	probably benign	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Tm2d3	G	A	7: 65,351,420 (GRCm39)	G225S	probably damaging	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	probably 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
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'- AGTTCTGGACCCCTTGTACTTG -3'
(R):5'- GTGCCAACATCCTCTTCATCACAG -3'

Sequencing Primer
(F):5'- TGGACCCCTTGTACTTGAAATG -3'
(R):5'- TGCCTGTTACAATAGATAGTACAGG -3'

Posted On

2016-08-04