Mutagenetix > Incidental Mutations

Incidental Mutation 'R0128:Sp4'

60518

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

038413-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.632) question?

Stock #

R0128 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118234933-118301440 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 118300816 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152603 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026367

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323

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

probably benign
Transcript: ENSMUST00000221844

Predicted Effect

probably benign
Transcript: ENSMUST00000222314

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,575,639		probably benign	Het
Abcd4	T	G	12: 84,612,352	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Actl6b	A	G	5: 137,555,065	N113S	probably benign	Het
Actn3	A	T	19: 4,871,615	V179E	probably damaging	Het
Aff4	C	A	11: 53,415,466	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,591,859	Q431*	probably null	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Asap3	C	A	4: 136,234,604	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,713,184	N477S	probably damaging	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
C87436	G	A	6: 86,469,827	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,528,360	I314N	probably damaging	Het
Ccs	A	G	19: 4,825,626	F237S	probably damaging	Het
Ccz1	T	G	5: 144,009,294		probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Chd1	A	G	17: 17,393,567	N531S	probably damaging	Het
Clptm1	A	T	7: 19,635,007	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dlg1	G	T	16: 31,858,065		probably null	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Ergic3	C	A	2: 156,011,140	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Ghrl	A	T	6: 113,717,168		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm12166	A	G	11: 46,052,293	M1T	probably null	Het
Gm4787	T	A	12: 81,377,747	K546*	probably null	Het
Gm498	G	T	7: 143,891,755	G178C	probably damaging	Het
Gm6576	C	G	15: 27,026,000		noncoding transcript	Het
Got1	C	T	19: 43,524,377	D27N	probably benign	Het
Gucy2c	C	T	6: 136,704,249	V946I	probably damaging	Het
Hectd4	T	C	5: 121,349,243	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Itpr1	A	G	6: 108,471,209		probably benign	Het
Kctd1	G	A	18: 14,974,180	P743S	probably benign	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Krt24	T	C	11: 99,280,267	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Lipo3	C	T	19: 33,557,106		probably null	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k4	T	A	17: 12,248,063	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,461,223	V15A	probably benign	Het
Narf	C	T	11: 121,250,836	R356C	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Olfm5	G	A	7: 104,160,926	A76V	probably benign	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr656	A	T	7: 104,618,581	I301F	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Palb2	A	T	7: 122,128,166	Y160*	probably null	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pdcd11	G	A	19: 47,119,862	V1223I	probably benign	Het
Pde6c	T	C	19: 38,169,365		probably benign	Het
Prr12	A	G	7: 45,050,039		probably benign	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sfr1	A	G	19: 47,735,018	*320W	probably null	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,636,209	M519V	probably benign	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Spag9	T	A	11: 94,093,539	I327N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Unc79	A	G	12: 103,088,434		probably benign	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het
Wrap73	A	G	4: 154,142,500	D19G	possibly damaging	Het

Other mutations in Sp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Sp4	APN	12	118299549	missense	probably damaging	0.99
IGL02817:Sp4	APN	12	118299552	missense	probably damaging	1.00
IGL02833:Sp4	APN	12	118261881	missense	probably benign	0.05
Speck	UTSW	12	118300811	splice site	probably null
R0130:Sp4	UTSW	12	118300816	splice site	probably benign
R0398:Sp4	UTSW	12	118298673	missense	possibly damaging	0.79
R0626:Sp4	UTSW	12	118299579	missense	probably damaging	1.00
R1193:Sp4	UTSW	12	118299246	missense	possibly damaging	0.94
R1775:Sp4	UTSW	12	118299600	missense	probably damaging	0.99
R4724:Sp4	UTSW	12	118261809	missense	probably benign
R4861:Sp4	UTSW	12	118300811	splice site	probably null
R4861:Sp4	UTSW	12	118300811	splice site	probably null
R4969:Sp4	UTSW	12	118299606	missense	probably damaging	0.96
R5049:Sp4	UTSW	12	118254472	missense	probably benign	0.04
R5178:Sp4	UTSW	12	118261889	missense	possibly damaging	0.46
R5208:Sp4	UTSW	12	118299546	missense	probably damaging	1.00
R5722:Sp4	UTSW	12	118299241	missense	possibly damaging	0.66
R6318:Sp4	UTSW	12	118238178	missense	probably damaging	1.00
R6619:Sp4	UTSW	12	118299342	missense	possibly damaging	0.92
R6917:Sp4	UTSW	12	118299173	missense	probably damaging	1.00
R7195:Sp4	UTSW	12	118300072	missense	possibly damaging	0.92
R7614:Sp4	UTSW	12	118254439	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CGGATTTAGTGGAAGACAGCAGTCG -3'
(R):5'- GGTCGGGTTTCAAACCACGTTTC -3'

Sequencing Primer
(F):5'- TAGCCTCAACGATGGGAAATCTTC -3'
(R):5'- TCGTGAGAGccccctcc -3'

Posted On

2013-07-24