Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Sp1'

515075

Institutional Source

Beutler Lab

Gene Symbol

Sp1

Ensembl Gene

ENSMUSG00000001280

Gene Name

trans-acting transcription factor 1

Synonyms

Sp1-1, 1110003E12Rik

MMRRC Submission

044527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102314751-102344839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102339318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 733 (T733S)

Ref Sequence

ENSEMBL: ENSMUSP00000001326 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001326
AA Change: T733S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: T733S

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 benign
Transcript: ENSMUST00000163709
AA Change: T419S

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

SMART Domains

Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: T419S

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 benign
Transcript: ENSMUST00000165924
AA Change: T733S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: T733S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,743,855 (GRCm39)	S812P	possibly damaging	Het
Atp2c2	A	G	8: 120,453,093 (GRCm39)	E159G	probably benign	Het
Atrn	A	G	2: 130,821,889 (GRCm39)	I861V	probably damaging	Het
Clip1	A	G	5: 123,741,717 (GRCm39)	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,975,608 (GRCm39)	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,657 (GRCm39)	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,329,748 (GRCm39)		probably null	Het
Cyp4a14	A	G	4: 115,353,280 (GRCm39)	Y11H	probably benign	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,618,317 (GRCm39)	Y242F	probably benign	Het
Drd3	G	T	16: 43,641,670 (GRCm39)	G329*	probably null	Het
Duxf1	T	C	10: 58,059,494 (GRCm39)		probably benign	Het
Dysf	T	A	6: 83,985,945 (GRCm39)	S17T	probably benign	Het
Eno1	A	T	4: 150,333,009 (GRCm39)	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,518,971 (GRCm39)	V190I	probably benign	Het
Fkbp15	T	C	4: 62,242,429 (GRCm39)	T508A	probably damaging	Het
Fndc1	A	G	17: 7,988,567 (GRCm39)	V1165A	unknown	Het
Foxj3	A	T	4: 119,430,945 (GRCm39)		probably null	Het
Gabarap	T	C	11: 69,882,630 (GRCm39)		probably null	Het
Gm19410	T	A	8: 36,270,736 (GRCm39)	L1221*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Igf1r	A	T	7: 67,850,998 (GRCm39)	Y931F	probably benign	Het
Il23r	A	T	6: 67,400,636 (GRCm39)	S565T	probably damaging	Het
Ipo8	A	T	6: 148,717,995 (GRCm39)	Y209*	probably null	Het
Jph2	C	T	2: 163,181,632 (GRCm39)	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,635,890 (GRCm39)	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562 (GRCm39)	L754Q	probably damaging	Het
Ksr1	C	T	11: 78,927,320 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 69,084,918 (GRCm39)	V610F	probably benign	Het
Lars2	A	G	9: 123,283,825 (GRCm39)	T698A	probably benign	Het
Lonp1	A	G	17: 56,928,961 (GRCm39)	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,468,128 (GRCm39)	D925E	probably damaging	Het
Lsg1	A	G	16: 30,393,386 (GRCm39)	L187P	possibly damaging	Het
Mki67	A	T	7: 135,298,050 (GRCm39)	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,315,271 (GRCm39)	I305T	probably damaging	Het
Mtbp	A	G	15: 55,421,016 (GRCm39)	M1V	probably null	Het
Myadml2	C	A	11: 120,538,538 (GRCm39)	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703 (GRCm39)	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 79,250,739 (GRCm39)	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,449,339 (GRCm39)	Y147F	probably benign	Het
Or4c11c	C	T	2: 88,661,613 (GRCm39)	R51*	probably null	Het
Pet100	T	C	8: 3,672,370 (GRCm39)	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,869 (GRCm39)	V75A	probably benign	Het
Ptprs	A	T	17: 56,725,935 (GRCm39)	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,832,984 (GRCm39)	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,287,635 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,462,530 (GRCm39)	C4839S	probably damaging	Het
Scai	A	C	2: 38,992,340 (GRCm39)	D379E	probably benign	Het
Scd2	G	T	19: 44,288,198 (GRCm39)	G197*	probably null	Het
Sdr39u1	A	C	14: 56,135,166 (GRCm39)	I259S	probably benign	Het
Slco1a5	A	T	6: 142,187,906 (GRCm39)		probably null	Het
Tecta	A	G	9: 42,255,051 (GRCm39)	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,124,975 (GRCm39)	W240L	probably damaging	Het
Trarg1	T	C	11: 76,571,355 (GRCm39)	S124P	probably damaging	Het
Trim50	A	G	5: 135,382,454 (GRCm39)	K102R	probably benign	Het
Utrn	A	G	10: 12,619,827 (GRCm39)	Y278H	probably damaging	Het
Vinac1	T	A	2: 128,878,731 (GRCm39)	D1065V	unknown	Het
Vmn2r109	A	C	17: 20,784,796 (GRCm39)		probably null	Het
Zbed5	T	C	5: 129,932,210 (GRCm39)	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,711,304 (GRCm39)	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 10,802,418 (GRCm39)		probably null	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
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'- ACACATCAACCTCAACTTTGTTCTG -3'
(R):5'- CTGGCACTGGGTGTCTAATC -3'

Sequencing Primer
(F):5'- AACCTCAACTTTGTTCTGACTGC -3'
(R):5'- GTCTAATCTTAGAAACCATTGCCAC -3'

Posted On

2018-05-04