Mutagenetix > Incidental Mutation

Incidental Mutation 'R4724:Sp4'

354717

Institutional Source

Beutler Lab

Gene Symbol

Sp4

Ensembl Gene

ENSMUSG00000025323

Gene Name

trans-acting transcription factor 4

Synonyms

5730497N03Rik, HF1-b, HF-1b

MMRRC Submission

041988-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R4724 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118225544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 607 (T607A)

Ref Sequence

ENSEMBL: ENSMUSP00000152603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026367] [ENSMUST00000221844] [ENSMUST00000222314]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026367
AA Change: T607A

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: T607A

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	120	146	N/A	INTRINSIC
internal_repeat_1	157	255	4.15e-6	PROSPERO
internal_repeat_2	203	265	5.92e-5	PROSPERO
low complexity region	272	296	N/A	INTRINSIC
low complexity region	300	342	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
low complexity region	392	421	N/A	INTRINSIC
low complexity region	424	445	N/A	INTRINSIC
internal_repeat_2	451	506	5.92e-5	PROSPERO
internal_repeat_1	461	539	4.15e-6	PROSPERO
low complexity region	540	549	N/A	INTRINSIC
low complexity region	556	570	N/A	INTRINSIC
low complexity region	595	607	N/A	INTRINSIC
low complexity region	629	638	N/A	INTRINSIC
ZnF_C2H2	645	669	2.82e0	SMART
ZnF_C2H2	675	699	7.37e-4	SMART
ZnF_C2H2	705	727	1.47e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000221844
AA Change: T52A

Predicted Effect

probably benign
Transcript: ENSMUST00000222314
AA Change: T607A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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 transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	G	3: 89,960,848 (GRCm39)	Q34E	probably damaging	Het
4933434E20Rik	G	T	3: 89,960,890 (GRCm39)	V48F	probably damaging	Het
4933434E20Rik	A	T	3: 89,960,849 (GRCm39)	Q34L	probably damaging	Het
Abra	T	C	15: 41,729,302 (GRCm39)	D366G	probably damaging	Het
Acvr2a	T	C	2: 48,760,447 (GRCm39)	S68P	probably damaging	Het
Adam28	T	A	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adamts1	T	A	16: 85,599,393 (GRCm39)	E69V	probably benign	Het
Adgra1	A	T	7: 139,455,505 (GRCm39)	M378L	probably benign	Het
Adgra2	T	A	8: 27,588,850 (GRCm39)	N101K	possibly damaging	Het
Adhfe1	T	A	1: 9,646,475 (GRCm39)	F449L	probably damaging	Het
Akap6	T	A	12: 52,842,668 (GRCm39)	S5R	possibly damaging	Het
Akap9	G	A	5: 4,105,339 (GRCm39)	R2883Q	probably benign	Het
Ank3	T	A	10: 69,542,688 (GRCm39)	I16N	probably benign	Het
Api5	A	T	2: 94,253,816 (GRCm39)	F296I	possibly damaging	Het
Ceacam14	G	T	7: 17,547,975 (GRCm39)		probably null	Het
Cep295	C	T	9: 15,242,128 (GRCm39)	G1768S	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cp	C	A	3: 20,026,811 (GRCm39)	T413K	probably benign	Het
Ctdsp2	T	G	10: 126,828,938 (GRCm39)	V104G	probably damaging	Het
Ctrc	T	A	4: 141,573,607 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dctn1	T	A	6: 83,166,920 (GRCm39)	M257K	possibly damaging	Het
Depp1	T	A	6: 116,629,096 (GRCm39)	C146*	probably null	Het
Dlgap5	C	T	14: 47,638,977 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Exoc8	A	G	8: 125,623,989 (GRCm39)	V126A	probably benign	Het
Fam185a	T	A	5: 21,660,785 (GRCm39)	S267T	probably damaging	Het
Fhod1	T	C	8: 106,064,493 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,687,307 (GRCm39)		probably null	Het
Gadl1	A	T	9: 115,783,685 (GRCm39)	T214S	possibly damaging	Het
Gem	G	T	4: 11,706,074 (GRCm39)	R54L	probably damaging	Het
Ghr	A	G	15: 3,355,422 (GRCm39)	V287A	probably benign	Het
Gm3642	G	A	14: 18,212,879 (GRCm39)	T215I	probably benign	Het
Grip1	T	A	10: 119,874,588 (GRCm39)	I732K	probably benign	Het
Gtpbp2	A	T	17: 46,478,147 (GRCm39)		probably null	Het
Heatr6	C	T	11: 83,670,374 (GRCm39)	R976*	probably null	Het
Hipk2	T	A	6: 38,675,327 (GRCm39)	T1084S	probably benign	Het
Hmcn1	T	C	1: 150,570,584 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,249,438 (GRCm39)	M1328K	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ighv1-64	A	G	12: 115,471,466 (GRCm39)	V17A	probably benign	Het
Iqgap2	G	T	13: 95,772,005 (GRCm39)	N1391K	possibly damaging	Het
Irf7	A	T	7: 140,844,648 (GRCm39)	L148Q	possibly damaging	Het
Kat6b	G	A	14: 21,711,030 (GRCm39)	R768K	probably benign	Het
Lepr	G	A	4: 101,622,562 (GRCm39)	W447*	probably null	Het
Letmd1	A	G	15: 100,367,619 (GRCm39)	Y59C	probably damaging	Het
Lingo4	A	T	3: 94,310,183 (GRCm39)	K374*	probably null	Het
Loxl4	G	T	19: 42,596,785 (GRCm39)	D62E	probably benign	Het
Lrfn2	A	G	17: 49,377,462 (GRCm39)	D181G	probably damaging	Het
Lrrc71	A	T	3: 87,646,481 (GRCm39)	F526L	probably damaging	Het
Ltbp1	A	T	17: 75,620,003 (GRCm39)	M711L	probably damaging	Het
Mcm7	A	T	5: 138,167,387 (GRCm39)	D78E	probably damaging	Het
Mdh1	T	C	11: 21,512,957 (GRCm39)	N136D	probably damaging	Het
Meltf	T	A	16: 31,711,323 (GRCm39)	N515K	probably benign	Het
Mis18bp1	T	A	12: 65,205,513 (GRCm39)	T220S	probably benign	Het
Mtss1	C	T	15: 58,953,367 (GRCm39)	V4M	probably damaging	Het
Nacc2	A	T	2: 25,980,185 (GRCm39)	F84I	probably damaging	Het
Nedd9	A	G	13: 41,470,073 (GRCm39)	V360A	possibly damaging	Het
Nek11	T	A	9: 105,270,169 (GRCm39)	I18F	possibly damaging	Het
Nkd2	C	T	13: 73,995,124 (GRCm39)	V13M	probably damaging	Het
Nkx6-3	A	G	8: 23,646,285 (GRCm39)	I152V	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Oprm1	A	T	10: 6,708,656 (GRCm39)	R16*	probably null	Het
Or1e16	A	T	11: 73,285,981 (GRCm39)	I289N	probably damaging	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Or5an1	T	C	19: 12,260,460 (GRCm39)	L16P	probably damaging	Het
Or5p69	T	A	7: 107,967,205 (GRCm39)	F169L	probably benign	Het
Or6d15	T	C	6: 116,559,898 (GRCm39)	N3S	probably damaging	Het
Or7a36	A	G	10: 78,820,356 (GRCm39)	H244R	probably damaging	Het
Ostf1	G	A	19: 18,571,231 (GRCm39)	P62L	probably damaging	Het
Pcdha2	A	T	18: 37,073,568 (GRCm39)	T400S	possibly damaging	Het
Pcdha5	A	T	18: 37,094,549 (GRCm39)	T353S	possibly damaging	Het
Pelo	A	G	13: 115,225,271 (GRCm39)	F318S	probably damaging	Het
Polr2f	T	C	15: 79,030,269 (GRCm39)	V36A	probably benign	Het
Ppan	G	A	9: 20,799,806 (GRCm39)	R41H	probably benign	Het
Ppp1r21	C	T	17: 88,863,019 (GRCm39)	R253*	probably null	Het
Prf1	T	A	10: 61,139,487 (GRCm39)	W482R	probably damaging	Het
Ralgapa2	T	C	2: 146,187,453 (GRCm39)	T1397A	possibly damaging	Het
Rev3l	T	A	10: 39,722,802 (GRCm39)	Y2598*	probably null	Het
Scaf11	G	T	15: 96,312,729 (GRCm39)	D1437E	probably benign	Het
Sec23a	C	T	12: 59,025,292 (GRCm39)	G510R	probably damaging	Het
Sel1l2	A	G	2: 140,082,847 (GRCm39)	M597T	probably damaging	Het
Slc11a2	A	T	15: 100,304,219 (GRCm39)	S160T	possibly damaging	Het
Slc18a1	A	T	8: 69,526,301 (GRCm39)	L129*	probably null	Het
Smg8	A	C	11: 86,977,047 (GRCm39)	L178R	probably benign	Het
Ssbp2	A	G	13: 91,836,933 (GRCm39)	D266G	possibly damaging	Het
Sstr3	A	T	15: 78,423,897 (GRCm39)	Y283*	probably null	Het
Stk32b	C	T	5: 37,612,278 (GRCm39)		probably null	Het
Svep1	T	C	4: 58,070,752 (GRCm39)	T2345A	possibly damaging	Het
Synpo2	A	G	3: 122,907,940 (GRCm39)	S459P	probably damaging	Het
Sytl2	A	G	7: 89,998,000 (GRCm39)	M1V	probably null	Het
Tas2r102	T	A	6: 132,739,520 (GRCm39)	W143R	probably damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tlr2	A	T	3: 83,745,492 (GRCm39)	I197N	probably damaging	Het
Tmem101	A	G	11: 102,044,269 (GRCm39)	I206T	probably benign	Het
Tmem108	A	G	9: 103,376,688 (GRCm39)	S254P	possibly damaging	Het
Tmem198b	T	C	10: 128,637,350 (GRCm39)	Q263R	probably damaging	Het
Vangl1	T	C	3: 102,091,870 (GRCm39)	D72G	probably damaging	Het
Vmn1r4	T	A	6: 56,934,349 (GRCm39)	D284E	probably benign	Het
Vmn2r31	G	A	7: 7,387,757 (GRCm39)	L605F	possibly damaging	Het
Zfand4	T	C	6: 116,250,780 (GRCm39)	V70A	probably damaging	Het
Zfp54	A	G	17: 21,653,665 (GRCm39)	E53G	probably damaging	Het
Zfp541	A	T	7: 15,815,612 (GRCm39)	I805F	probably damaging	Het
Zfp976	T	C	7: 42,262,457 (GRCm39)	H460R	possibly damaging	Het

Other mutations in Sp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Sp4	APN	12	118,263,284 (GRCm39)	missense	probably damaging	0.99
IGL02817:Sp4	APN	12	118,263,287 (GRCm39)	missense	probably damaging	1.00
IGL02833:Sp4	APN	12	118,225,616 (GRCm39)	missense	probably benign	0.05
Deadloss	UTSW	12	118,218,174 (GRCm39)	missense	possibly damaging	0.82
Speck	UTSW	12	118,264,546 (GRCm39)	splice site	probably null
R0128:Sp4	UTSW	12	118,264,551 (GRCm39)	splice site	probably benign
R0130:Sp4	UTSW	12	118,264,551 (GRCm39)	splice site	probably benign
R0398:Sp4	UTSW	12	118,262,408 (GRCm39)	missense	possibly damaging	0.79
R0626:Sp4	UTSW	12	118,263,314 (GRCm39)	missense	probably damaging	1.00
R1193:Sp4	UTSW	12	118,262,981 (GRCm39)	missense	possibly damaging	0.94
R1775:Sp4	UTSW	12	118,263,335 (GRCm39)	missense	probably damaging	0.99
R4861:Sp4	UTSW	12	118,264,546 (GRCm39)	splice site	probably null
R4861:Sp4	UTSW	12	118,264,546 (GRCm39)	splice site	probably null
R4969:Sp4	UTSW	12	118,263,341 (GRCm39)	missense	probably damaging	0.96
R5049:Sp4	UTSW	12	118,218,207 (GRCm39)	missense	probably benign	0.04
R5178:Sp4	UTSW	12	118,225,624 (GRCm39)	missense	possibly damaging	0.46
R5208:Sp4	UTSW	12	118,263,281 (GRCm39)	missense	probably damaging	1.00
R5722:Sp4	UTSW	12	118,262,976 (GRCm39)	missense	possibly damaging	0.66
R6318:Sp4	UTSW	12	118,201,913 (GRCm39)	missense	probably damaging	1.00
R6619:Sp4	UTSW	12	118,263,077 (GRCm39)	missense	possibly damaging	0.92
R6917:Sp4	UTSW	12	118,262,908 (GRCm39)	missense	probably damaging	1.00
R7195:Sp4	UTSW	12	118,263,807 (GRCm39)	missense	possibly damaging	0.92
R7614:Sp4	UTSW	12	118,218,174 (GRCm39)	missense	possibly damaging	0.82
R7747:Sp4	UTSW	12	118,218,139 (GRCm39)	splice site	probably null
R7983:Sp4	UTSW	12	118,264,967 (GRCm39)	start codon destroyed	probably null
R8709:Sp4	UTSW	12	118,263,189 (GRCm39)	missense	possibly damaging	0.66
R8817:Sp4	UTSW	12	118,225,624 (GRCm39)	missense	possibly damaging	0.92
R9436:Sp4	UTSW	12	118,202,000 (GRCm39)	missense	possibly damaging	0.82
R9487:Sp4	UTSW	12	118,262,859 (GRCm39)	missense	probably benign	0.05
R9595:Sp4	UTSW	12	118,262,690 (GRCm39)	missense	possibly damaging	0.46
Z1177:Sp4	UTSW	12	118,263,794 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGCATTCCAGTTTCTGAGAGAG -3'
(R):5'- CAGCAGCTGGGTAAATATCGTATC -3'

Sequencing Primer
(F):5'- GAAAGCTCAGGAGGCTCC -3'
(R):5'- GGGTAAATATCGTATCATTAAGCCC -3'

Posted On

2015-10-21