Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Sp1'

176825

Institutional Source

Beutler Lab

Gene Symbol

Sp1

Ensembl Gene

ENSMUSG00000001280

Gene Name

trans-acting transcription factor 1

Synonyms

Sp1-1, 1110003E12Rik

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102314751-102344839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102339370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 436 (I436N)

Ref Sequence

ENSEMBL: ENSMUSP00000130747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001326] [ENSMUST00000163709] [ENSMUST00000165924]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001326
AA Change: I750N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: I750N

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 damaging
Transcript: ENSMUST00000163709
AA Change: I436N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: I436N

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: ENSMUST00000165924
AA Change: I750N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: I750N

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

noncoding transcript
Transcript: ENSMUST00000170042

Meta Mutation Damage Score

0.3632

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably 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
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
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'- AGAGAAGAAATTTGCCTGCCCTGAG -3'
(R):5'- CCAGTGACATTGGGTGCCACAATC -3'

Sequencing Primer
(F):5'- TGCCCTGAGTGCCCTAAG -3'
(R):5'- GGGTGCCACAATCCCATCTC -3'

Posted On

2014-04-24