Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Sp1'

232206

Institutional Source

Beutler Lab

Gene Symbol

Sp1

Ensembl Gene

ENSMUSG00000001280

Gene Name

trans-acting transcription factor 1

Synonyms

Sp1-1, 1110003E12Rik

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102314751-102344839 bp(+) (GRCm39)

Type of Mutation

splice site (1443 bp from exon)

DNA Base Change (assembly)

A to G at 102318113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001326] [ENSMUST00000163709] [ENSMUST00000165837] [ENSMUST00000165924] [ENSMUST00000168802] [ENSMUST00000169619] [ENSMUST00000170884]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001326
AA Change: H544R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: H544R

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

possibly damaging
Transcript: ENSMUST00000163709
AA Change: H230R

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: H230R

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

probably null
Transcript: ENSMUST00000165837

SMART Domains

Protein: ENSMUSP00000126143
Gene: ENSMUSG00000001280

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: ENSMUST00000165924
AA Change: H544R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: H544R

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

probably null
Transcript: ENSMUST00000168802

SMART Domains

Protein: ENSMUSP00000127445
Gene: ENSMUSG00000001280

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

probably null
Transcript: ENSMUST00000169619

SMART Domains

Protein: ENSMUSP00000127714
Gene: ENSMUSG00000001280

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

Predicted Effect

probably null
Transcript: ENSMUST00000170884

SMART Domains

Protein: ENSMUSP00000129638
Gene: ENSMUSG00000001280

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

Meta Mutation Damage Score

0.2105

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	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
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
R8059:Sp1	UTSW	15	102,316,337 (GRCm39)	missense	possibly damaging	0.73
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'- GTTTCCTTGGGGCAGACTAG -3'
(R):5'- GAGACCACAGGATCACTCAG -3'

Sequencing Primer
(F):5'- GGCAGACTAGCAGCAGTAATACC -3'
(R):5'- AGAAGTGCTCCTTTCTCATCAGAAC -3'

Posted On

2014-09-18