Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Sp1'

619622

Institutional Source

Beutler Lab

Gene Symbol

Sp1

Ensembl Gene

ENSMUSG00000001280

Gene Name

trans-acting transcription factor 1

Synonyms

Sp1-1, 1110003E12Rik

MMRRC Submission

067894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102314751-102344839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102316337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 46 (S46R)

Ref Sequence

ENSEMBL: ENSMUSP00000001326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001326] [ENSMUST00000163709] [ENSMUST00000165837] [ENSMUST00000168802] [ENSMUST00000169619] [ENSMUST00000170884]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001326
AA Change: S46R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: S46R

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	37	62	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
low complexity region	279	296	N/A	INTRINSIC
low complexity region	300	333	N/A	INTRINSIC
low complexity region	341	354	N/A	INTRINSIC
low complexity region	370	422	N/A	INTRINSIC
low complexity region	464	480	N/A	INTRINSIC
ZnF_C2H2	624	648	4.34e0	SMART
ZnF_C2H2	654	678	1.98e-4	SMART
ZnF_C2H2	684	706	1.12e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163709
AA Change: S46R

SMART Domains

Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: S46R

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	37	108	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC
ZnF_C2H2	310	334	4.34e0	SMART
ZnF_C2H2	340	364	1.98e-4	SMART
ZnF_C2H2	370	392	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165837
AA Change: S39R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126143
Gene: ENSMUSG00000001280
AA Change: S39R

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	55	N/A	INTRINSIC
low complexity region	67	83	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168802
AA Change: S39R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127445
Gene: ENSMUSG00000001280
AA Change: S39R

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	55	N/A	INTRINSIC
low complexity region	67	83	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169619
AA Change: S39R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127714
Gene: ENSMUSG00000001280
AA Change: S39R

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	55	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170884
AA Change: S39R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129638
Gene: ENSMUSG00000001280
AA Change: S39R

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	55	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,279 (GRCm39)	M3372K	probably benign	Het
Abcg3	A	T	5: 105,100,948 (GRCm39)		probably null	Het
Adam19	G	A	11: 46,027,293 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,344,794 (GRCm39)	T53K	probably damaging	Het
Ccdc141	A	C	2: 76,875,095 (GRCm39)	L705R	probably damaging	Het
Cep78	A	T	19: 15,958,876 (GRCm39)	V156E	probably benign	Het
Cers2	A	G	3: 95,229,982 (GRCm39)	D342G	probably damaging	Het
Chl1	T	A	6: 103,651,948 (GRCm39)	I272N	probably damaging	Het
Defb30	A	G	14: 63,273,383 (GRCm39)	*77Q	probably null	Het
Dnai3	C	G	3: 145,752,428 (GRCm39)	R749S	possibly damaging	Het
Dnm3	A	G	1: 161,911,708 (GRCm39)	V63A	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Entpd2	G	T	2: 25,288,096 (GRCm39)	V107L	probably damaging	Het
Hectd1	T	A	12: 51,837,161 (GRCm39)	H799L	possibly damaging	Het
Hira	T	C	16: 18,730,901 (GRCm39)	V200A	probably damaging	Het
Hspd1	T	C	1: 55,120,883 (GRCm39)	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,369,003 (GRCm39)	S326G	probably benign	Het
Kctd19	T	G	8: 106,122,983 (GRCm39)	I144L	probably benign	Het
Lama4	T	C	10: 38,842,057 (GRCm39)	I36T	probably benign	Het
Lrrn3	T	C	12: 41,504,216 (GRCm39)	T34A	probably benign	Het
Maco1	A	T	4: 134,555,359 (GRCm39)	C371*	probably null	Het
Maml3	A	G	3: 51,764,110 (GRCm39)	S285P	probably damaging	Het
Man2b2	A	G	5: 36,973,504 (GRCm39)	Y492H	probably damaging	Het
Mapk10	G	T	5: 103,114,478 (GRCm39)	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,481 (GRCm39)	R163C	probably damaging	Het
Mtmr7	C	T	8: 41,034,564 (GRCm39)	A253T	probably damaging	Het
Naca	C	T	10: 127,876,372 (GRCm39)	P468L	unknown	Het
Nckap1l	T	C	15: 103,401,714 (GRCm39)	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,040,173 (GRCm39)	*629W	probably null	Het
Nfkb1	C	T	3: 135,299,613 (GRCm39)	A731T	possibly damaging	Het
Nop2	T	C	6: 125,117,775 (GRCm39)	V442A	probably damaging	Het
Oaz2	C	T	9: 65,596,425 (GRCm39)	P163L	probably damaging	Het
Or5p57	T	C	7: 107,665,223 (GRCm39)	T231A	probably benign	Het
Or6d14	C	T	6: 116,533,434 (GRCm39)	T16I	possibly damaging	Het
Or8k23	A	G	2: 86,186,306 (GRCm39)	V140A	probably benign	Het
Pabpc2	A	T	18: 39,907,875 (GRCm39)	N380I	probably benign	Het
Pax3	T	C	1: 78,080,003 (GRCm39)	D461G	probably benign	Het
Pds5b	G	T	5: 150,731,300 (GRCm39)	R1443L	unknown	Het
Per1	G	A	11: 68,997,309 (GRCm39)	R828H	probably damaging	Het
Phlpp2	T	A	8: 110,622,189 (GRCm39)	S144T	probably benign	Het
Plod1	A	T	4: 148,012,941 (GRCm39)	I207N	probably damaging	Het
Psmc6	A	T	14: 45,578,260 (GRCm39)	I208F	probably damaging	Het
Rev3l	T	C	10: 39,719,491 (GRCm39)	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,521,214 (GRCm39)		probably benign	Het
Rtraf	T	C	14: 19,872,631 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,294,792 (GRCm39)	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,272,572 (GRCm39)	T348S	probably benign	Het
Slc39a8	G	T	3: 135,532,347 (GRCm39)	A39S	probably benign	Het
Slc8a3	C	T	12: 81,249,032 (GRCm39)	G799S	probably damaging	Het
Spta1	A	G	1: 174,045,936 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,882,198 (GRCm39)	P499L	probably benign	Het
Trav21-dv12	C	A	14: 54,114,178 (GRCm39)	D99E	probably damaging	Het
Trpv6	T	G	6: 41,601,520 (GRCm39)	I467L	probably benign	Het
Ttc41	A	G	10: 86,548,842 (GRCm39)	Y12C	probably benign	Het
Vmn1r233	T	C	17: 21,214,698 (GRCm39)	N84S	probably benign	Het
Vrtn	T	C	12: 84,696,690 (GRCm39)	F480S	probably benign	Het
Zc3h13	C	G	14: 75,565,250 (GRCm39)	R788G	unknown	Het

Other mutations in Sp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Sp1	APN	15	102,339,364 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Sp1	UTSW	15	102,316,843 (GRCm39)	missense	possibly damaging	0.53
R0758:Sp1	UTSW	15	102,314,805 (GRCm39)	splice site	probably null
R1509:Sp1	UTSW	15	102,316,314 (GRCm39)	missense	possibly damaging	0.66
R1611:Sp1	UTSW	15	102,339,370 (GRCm39)	missense	probably damaging	0.99
R1820:Sp1	UTSW	15	102,317,511 (GRCm39)	missense	possibly damaging	0.73
R1824:Sp1	UTSW	15	102,339,438 (GRCm39)	missense	possibly damaging	0.70
R2107:Sp1	UTSW	15	102,318,113 (GRCm39)	splice site	probably null
R4508:Sp1	UTSW	15	102,317,747 (GRCm39)	missense	possibly damaging	0.53
R4857:Sp1	UTSW	15	102,339,409 (GRCm39)	missense	probably damaging	0.99
R5512:Sp1	UTSW	15	102,339,445 (GRCm39)	missense	possibly damaging	0.91
R5559:Sp1	UTSW	15	102,317,365 (GRCm39)	missense	probably benign	0.18
R5833:Sp1	UTSW	15	102,339,352 (GRCm39)	missense	possibly damaging	0.92
R6377:Sp1	UTSW	15	102,339,318 (GRCm39)	missense	probably benign	0.13
R8434:Sp1	UTSW	15	102,318,118 (GRCm39)	missense	probably benign	0.00
R8537:Sp1	UTSW	15	102,316,964 (GRCm39)	missense	possibly damaging	0.86
R9038:Sp1	UTSW	15	102,316,320 (GRCm39)	missense	probably benign	0.18
X0050:Sp1	UTSW	15	102,317,846 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATTGCTGACGGTCAAATCC -3'
(R):5'- TCCAACTTTCGTATCTGGGGAC -3'

Sequencing Primer
(F):5'- ATGTTGTTTTTAACACACCCCC -3'
(R):5'- GGGACCCTCTAGATCACCTATC -3'

Posted On

2020-01-23