Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Sp3'

647844

Institutional Source

Beutler Lab

Gene Symbol

Sp3

Ensembl Gene

ENSMUSG00000027109

Gene Name

trans-acting transcription factor 3

Synonyms

D130027J01Rik

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72766774-72810790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72801573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 191 (T191A)

Ref Sequence

ENSEMBL: ENSMUSP00000099750 (fasta)

Gene Model

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

AlphaFold

O70494

Predicted Effect

probably benign
Transcript: ENSMUST00000066003
AA Change: T147A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: T147A

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: T191A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: T191A

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

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,070,792 (GRCm39)	P638T	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,319,674 (GRCm39)	I1404N	probably damaging	Het
Cdc42se1	A	G	3: 95,139,908 (GRCm39)	N35D	probably damaging	Het
Cep290	A	G	10: 100,376,231 (GRCm39)	S1447G	probably benign	Het
Chd6	T	A	2: 160,867,863 (GRCm39)	H436L	probably benign	Het
Cnbd2	T	C	2: 156,217,326 (GRCm39)	V605A	probably benign	Het
Col22a1	T	A	15: 71,845,700 (GRCm39)	D354V	probably damaging	Het
Col25a1	T	A	3: 130,316,128 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,514,734 (GRCm39)	M1L	possibly damaging	Het
Cux1	A	T	5: 136,514,593 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,335 (GRCm39)	S226T	unknown	Het
Cyp4b1	T	C	4: 115,499,162 (GRCm39)	D68G	probably benign	Het
Dicer1	A	C	12: 104,671,429 (GRCm39)	L947R	probably damaging	Het
Dmp1	T	C	5: 104,359,590 (GRCm39)	S89P	probably damaging	Het
Dpf1	A	G	7: 29,011,032 (GRCm39)	K144E	possibly damaging	Het
Emc1	T	A	4: 139,082,181 (GRCm39)	H94Q	probably benign	Het
Ep300	C	T	15: 81,470,594 (GRCm39)		probably benign	Het
Epha10	T	C	4: 124,796,440 (GRCm39)	I383T		Het
Epo	T	A	5: 137,483,438 (GRCm39)	E5D	probably benign	Het
Esp15	G	A	17: 39,955,624 (GRCm39)	V64I	possibly damaging	Het
Fbxl18	A	T	5: 142,871,504 (GRCm39)	V577E	probably damaging	Het
Fhl4	A	T	10: 84,934,113 (GRCm39)	C223S	probably damaging	Het
Fhl4	A	T	10: 84,934,379 (GRCm39)	I134N	probably benign	Het
Frmpd2	G	T	14: 33,264,895 (GRCm39)	M891I	probably benign	Het
Gk2	T	C	5: 97,604,257 (GRCm39)	I194V	probably benign	Het
Glt8d2	A	C	10: 82,498,122 (GRCm39)		probably null	Het
Gm12886	G	C	4: 121,273,876 (GRCm39)	H113Q	possibly damaging	Het
Hycc1	A	G	5: 24,120,494 (GRCm39)	S345P	probably damaging	Het
Ighv1-36	A	T	12: 114,843,646 (GRCm39)	Y71*	probably null	Het
Il18bp	A	G	7: 101,666,029 (GRCm39)	W50R	probably damaging	Het
Jmjd1c	T	A	10: 67,054,195 (GRCm39)	I33K	probably benign	Het
Lama5	C	T	2: 179,822,654 (GRCm39)	A2833T	probably damaging	Het
Manea	T	G	4: 26,340,758 (GRCm39)	N68T	probably benign	Het
Map1a	T	C	2: 121,130,201 (GRCm39)	L339P	probably damaging	Het
Mblac1	A	C	5: 138,192,919 (GRCm39)	D87A	probably damaging	Het
Mmp24	C	T	2: 155,640,096 (GRCm39)	T142I	probably damaging	Het
Mpp2	T	A	11: 101,950,261 (GRCm39)	H531L	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mx1	T	A	16: 97,249,521 (GRCm39)	I339F	unknown	Het
Naip2	G	A	13: 100,296,877 (GRCm39)	T1053I	probably benign	Het
Nckap1l	A	G	15: 103,371,248 (GRCm39)		probably null	Het
Or51f23c-ps1	A	G	7: 102,431,529 (GRCm39)	Y282C	possibly damaging	Het
Or5an1b	T	C	19: 12,299,841 (GRCm39)	T117A	probably benign	Het
Otud7b	T	C	3: 96,063,280 (GRCm39)	F840L	probably damaging	Het
Pdzd8	T	C	19: 59,333,373 (GRCm39)	Y216C	probably damaging	Het
Pkd1l1	T	A	11: 8,915,142 (GRCm39)	I133F		Het
Plaur	A	G	7: 24,173,692 (GRCm39)	N221S	possibly damaging	Het
Plin4	T	C	17: 56,410,828 (GRCm39)	T1068A	probably benign	Het
Plxnd1	T	C	6: 115,936,755 (GRCm39)	D1659G	probably damaging	Het
Prpf8	T	A	11: 75,391,022 (GRCm39)	M1357K	probably benign	Het
Prr36	G	T	8: 4,263,989 (GRCm39)	T559N	unknown	Het
Prss46	A	G	9: 110,678,622 (GRCm39)	M2V	probably benign	Het
Rbpms	T	A	8: 34,354,391 (GRCm39)	E51D	probably damaging	Het
Rere	C	T	4: 150,701,555 (GRCm39)	R328W		Het
Retnla	T	A	16: 48,663,176 (GRCm39)	N26K	probably benign	Het
Rubcnl	G	A	14: 75,269,404 (GRCm39)	V21I	probably benign	Het
Safb	T	A	17: 56,908,504 (GRCm39)	S598R	unknown	Het
Sertad4	A	G	1: 192,529,175 (GRCm39)	S214P	possibly damaging	Het
Sin3a	C	T	9: 57,017,938 (GRCm39)	Q786*	probably null	Het
Slc8a3	A	C	12: 81,361,247 (GRCm39)	L524W	probably damaging	Het
Sp9	T	C	2: 73,103,724 (GRCm39)	S93P	probably damaging	Het
Tbrg1	A	C	9: 37,560,771 (GRCm39)	H368Q	probably benign	Het
Tinagl1	T	G	4: 130,061,832 (GRCm39)	Q198H	probably benign	Het
Usp19	C	T	9: 108,373,371 (GRCm39)	R648*	probably null	Het
Vmn2r124	A	G	17: 18,293,985 (GRCm39)	M691V	probably benign	Het
Vmn2r2	T	A	3: 64,024,536 (GRCm39)	M682L	possibly damaging	Het
Vps13d	T	A	4: 144,811,975 (GRCm39)	H3344L		Het
Vwa3a	G	A	7: 120,351,841 (GRCm39)	G35E	probably damaging	Het
Zfhx3	A	G	8: 109,677,754 (GRCm39)	S2935G	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp758	C	A	17: 22,594,646 (GRCm39)	Y377*	probably null	Het
Zfp952	A	G	17: 33,220,983 (GRCm39)	K67R	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
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'- GACCAAGAGGCACATTAGCG -3'
(R):5'- GTACAGATTCCAGGTGCTGC -3'

Sequencing Primer
(F):5'- AGGCACATTAGCGACTACTTG -3'
(R):5'- AGATTCCAGGTGCTGCTACTTCAAG -3'

Posted On

2020-09-02