Mutagenetix > Incidental Mutation

Incidental Mutation 'R4857:Sp1'

374101

Institutional Source

Beutler Lab

Gene Symbol

Sp1

Ensembl Gene

ENSMUSG00000001280

Gene Name

trans-acting transcription factor 1

Synonyms

Sp1-1, 1110003E12Rik

MMRRC Submission

042468-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102314751-102344839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102339409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 449 (I449S)

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: I763S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: I763S

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: I449S

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

SMART Domains

Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: I449S

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: I763S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: I763S

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

0.5050

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (115/119)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	C	T	15: 46,488,927 (GRCm39)		noncoding transcript	Het
Aasdh	A	T	5: 77,035,131 (GRCm39)	F428L	probably benign	Het
Abca13	A	G	11: 9,244,143 (GRCm39)	N2002S	probably benign	Het
Acot7	T	G	4: 152,322,211 (GRCm39)	F248V	possibly damaging	Het
Acsf2	A	G	11: 94,460,164 (GRCm39)	I396T	probably benign	Het
Agbl1	A	G	7: 76,069,583 (GRCm39)	N372D	probably benign	Het
Ahctf1	A	T	1: 179,626,922 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Bcl7b	A	G	5: 135,202,033 (GRCm39)	*59W	probably null	Het
Bdh1	A	G	16: 31,266,366 (GRCm39)		probably null	Het
Bin3	A	G	14: 70,366,344 (GRCm39)	N69S	probably benign	Het
Bltp3b	A	T	10: 89,615,825 (GRCm39)	N156I	probably damaging	Het
Bsdc1	T	C	4: 129,365,685 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,253,863 (GRCm39)	V700A	probably damaging	Het
Calcr	T	C	6: 3,708,511 (GRCm39)	N225S	probably benign	Het
Cby2	C	T	14: 75,830,478 (GRCm39)	E8K	probably damaging	Het
Cdh23	A	G	10: 60,227,563 (GRCm39)	S1173P	probably damaging	Het
Cftr	C	T	6: 18,320,974 (GRCm39)	T1428M	possibly damaging	Het
Chd1l	T	C	3: 97,479,975 (GRCm39)	K591E	probably benign	Het
Chrd	C	T	16: 20,557,508 (GRCm39)	P709L	possibly damaging	Het
Ckap4	T	C	10: 84,369,352 (GRCm39)	R127G	possibly damaging	Het
Cnbd2	T	C	2: 156,209,485 (GRCm39)	F476S	probably benign	Het
Dclk3	T	C	9: 111,297,716 (GRCm39)	V420A	probably benign	Het
Dnah5	A	G	15: 28,345,953 (GRCm39)	D2431G	probably benign	Het
Duox1	T	A	2: 122,146,212 (GRCm39)	I10N	probably benign	Het
Ece2	T	A	16: 20,436,556 (GRCm39)	V126D	probably damaging	Het
Elfn1	T	C	5: 139,958,840 (GRCm39)	Y615H	probably damaging	Het
Epha1	T	C	6: 42,338,416 (GRCm39)	D720G	probably benign	Het
Fras1	A	G	5: 96,926,018 (GRCm39)	I3741V	probably benign	Het
Gm53	A	T	11: 96,142,562 (GRCm39)		noncoding transcript	Het
Grb10	G	T	11: 11,901,469 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,368,384 (GRCm39)	H568R	probably damaging	Het
Gsap	A	T	5: 21,492,797 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,299,496 (GRCm39)		probably benign	Het
Gstm1	T	C	3: 107,923,724 (GRCm39)	R94G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,391,398 (GRCm39)	F866L	probably damaging	Het
Haao	T	A	17: 84,146,009 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,766,853 (GRCm39)	I805F	unknown	Het
Hemk1	A	T	9: 107,206,647 (GRCm39)		probably benign	Het
Il12rb1	A	T	8: 71,263,232 (GRCm39)	Y33F	possibly damaging	Het
Il19	T	A	1: 130,863,683 (GRCm39)	I103F	probably damaging	Het
Itpr1	A	G	6: 108,387,828 (GRCm39)	N1522S	probably benign	Het
Klhdc8a	A	G	1: 132,230,843 (GRCm39)	Y236C	probably damaging	Het
Klhl3	C	T	13: 58,166,620 (GRCm39)	G404S	probably damaging	Het
Large2	T	C	2: 92,196,979 (GRCm39)		probably benign	Het
Lgi1	C	A	19: 38,294,698 (GRCm39)	A490E	probably damaging	Het
Lmbr1	A	G	5: 29,528,807 (GRCm39)	L112P	probably damaging	Het
Lmo7	T	A	14: 102,124,784 (GRCm39)		probably null	Het
Lpin1	A	C	12: 16,613,631 (GRCm39)	I479S	possibly damaging	Het
Lrrc40	T	A	3: 157,771,866 (GRCm39)		probably benign	Het
Lrrc9	A	G	12: 72,546,466 (GRCm39)	N1218S	possibly damaging	Het
Map3k9	A	G	12: 81,771,401 (GRCm39)	V729A	probably benign	Het
Marf1	A	T	16: 13,946,475 (GRCm39)	Y1215*	probably null	Het
Moap1	T	A	12: 102,708,824 (GRCm39)	I242L	probably benign	Het
Mpo	A	G	11: 87,687,107 (GRCm39)	K218E	probably benign	Het
Mpz	C	T	1: 170,986,379 (GRCm39)	R98C	probably damaging	Het
Neb	T	G	2: 52,091,992 (GRCm39)	K5024T	probably damaging	Het
Nlrp4b	C	T	7: 10,449,225 (GRCm39)	T109I	probably benign	Het
Noc3l	T	A	19: 38,781,244 (GRCm39)		probably null	Het
Nosip	G	A	7: 44,726,102 (GRCm39)	V220I	probably benign	Het
Nyap1	A	C	5: 137,733,840 (GRCm39)	S398A	probably damaging	Het
Or12d17	A	G	17: 37,777,714 (GRCm39)	M206V	possibly damaging	Het
Or4a68	T	G	2: 89,269,967 (GRCm39)	I219L	probably damaging	Het
Or4f54	A	G	2: 111,123,488 (GRCm39)	N292D	possibly damaging	Het
Osbpl7	T	C	11: 96,947,495 (GRCm39)		probably benign	Het
Pard3	A	T	8: 128,050,535 (GRCm39)	Y199F	probably damaging	Het
Pcdha11	G	A	18: 37,144,505 (GRCm39)	V199I	probably benign	Het
Pcdhga8	A	T	18: 37,859,967 (GRCm39)	N341I	probably damaging	Het
Pcsk4	A	G	10: 80,160,873 (GRCm39)	S318P	probably damaging	Het
Phldb1	C	A	9: 44,607,389 (GRCm39)	R1272L	probably damaging	Het
Phlpp2	A	G	8: 110,603,642 (GRCm39)	T103A	probably damaging	Het
Pibf1	T	A	14: 99,423,937 (GRCm39)	Y503*	probably null	Het
Pkn1	A	T	8: 84,410,856 (GRCm39)		probably null	Het
Pramel22	A	T	4: 143,383,158 (GRCm39)	N20K	possibly damaging	Het
Ptprf	A	G	4: 118,074,394 (GRCm39)		probably benign	Het
Rbm19	C	A	5: 120,270,898 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,262,794 (GRCm39)	D5G	possibly damaging	Het
Recql5	A	T	11: 115,819,038 (GRCm39)	L176Q	probably damaging	Het
Rev3l	T	A	10: 39,714,455 (GRCm39)	L2393Q	probably damaging	Het
Rp1	C	A	1: 4,422,539 (GRCm39)	K180N	probably damaging	Het
Rp1	T	A	1: 4,422,540 (GRCm39)	K180M	probably damaging	Het
Sdk1	T	C	5: 142,147,531 (GRCm39)	V1461A	probably benign	Het
Sdk2	A	T	11: 113,712,208 (GRCm39)	L1653*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint10	A	T	4: 112,603,830 (GRCm39)	V119D	possibly damaging	Het
Sncaip	T	C	18: 53,002,297 (GRCm39)	S273P	probably benign	Het
Spata31h1	T	C	10: 82,119,682 (GRCm39)	T4443A	possibly damaging	Het
Spats2	T	C	15: 99,072,301 (GRCm39)	L78P	probably damaging	Het
Stambp	T	A	6: 83,533,348 (GRCm39)	N305I	probably benign	Het
Stim2	A	T	5: 54,275,888 (GRCm39)	S688C	probably damaging	Het
Sytl3	A	G	17: 7,003,980 (GRCm39)	N355S	probably damaging	Het
Taf4b	C	T	18: 14,937,635 (GRCm39)	A236V	probably null	Het
Tnfaip6	A	G	2: 51,941,086 (GRCm39)		probably null	Het
Trpc2	T	A	7: 101,733,176 (GRCm39)	S416T	probably benign	Het
Ttn	T	C	2: 76,569,210 (GRCm39)	T27228A	probably damaging	Het
Ush2a	T	A	1: 188,269,917 (GRCm39)	D1721E	probably benign	Het
Usp47	T	A	7: 111,681,759 (GRCm39)	H523Q	probably damaging	Het
Vmn1r8	A	T	6: 57,013,338 (GRCm39)	I130F	probably benign	Het
Vps13b	A	G	15: 35,456,800 (GRCm39)	S749G	probably benign	Het
Xrcc5	C	A	1: 72,365,424 (GRCm39)	T283K	possibly damaging	Het
Ydjc	A	G	16: 16,966,002 (GRCm39)		probably benign	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
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'- AGGAGTGATCACCTGTCAAAGC -3'
(R):5'- ACATTGGGTGCCACAATCCC -3'

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

Posted On

2016-03-01