Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R0128 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 118264551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152603 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: 128,552,602 (GRCm39)		probably benign	Het
Abcd4	T	G	12: 84,659,126 (GRCm39)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,445,492 (GRCm39)	G178C	probably damaging	Het
Actl6b	A	G	5: 137,553,327 (GRCm39)	N113S	probably benign	Het
Actn3	A	T	19: 4,921,643 (GRCm39)	V179E	probably damaging	Het
Aff4	C	A	11: 53,306,293 (GRCm39)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,241,067 (GRCm39)	Q431*	probably null	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Asap3	C	A	4: 135,961,915 (GRCm39)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,790,248 (GRCm39)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
C87436	G	A	6: 86,446,809 (GRCm39)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,364,182 (GRCm39)	I314N	probably damaging	Het
Ccs	A	G	19: 4,875,654 (GRCm39)	F237S	probably damaging	Het
Ccz1	T	G	5: 143,946,112 (GRCm39)		probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,613,829 (GRCm39)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,368,932 (GRCm39)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dlg1	G	T	16: 31,676,883 (GRCm39)		probably null	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Ergic3	C	A	2: 155,853,060 (GRCm39)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,694,129 (GRCm39)		probably benign	Het
Gm4787	T	A	12: 81,424,521 (GRCm39)	K546*	probably null	Het
Gm6576	C	G	15: 27,026,086 (GRCm39)		noncoding transcript	Het
Got1	C	T	19: 43,512,816 (GRCm39)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,681,247 (GRCm39)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,487,306 (GRCm39)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,448,170 (GRCm39)		probably benign	Het
Kctd1	G	A	18: 15,107,237 (GRCm39)	P743S	probably benign	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Krt24	T	C	11: 99,171,093 (GRCm39)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Lipo3	C	T	19: 33,534,506 (GRCm39)		probably null	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,466,950 (GRCm39)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,438,587 (GRCm39)	V15A	probably benign	Het
Narf	C	T	11: 121,141,662 (GRCm39)	R356C	probably damaging	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 103,810,133 (GRCm39)	A76V	probably benign	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or52p1	A	T	7: 104,267,788 (GRCm39)	I301F	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Palb2	A	T	7: 121,727,389 (GRCm39)	Y160*	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pdcd11	G	A	19: 47,108,301 (GRCm39)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,157,813 (GRCm39)		probably benign	Het
Prr12	A	G	7: 44,699,463 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,723,457 (GRCm39)	*320W	probably null	Het
Sft2d1rt	A	G	11: 45,943,120 (GRCm39)	M1T	probably null	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,665,693 (GRCm39)	M519V	probably benign	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Spag9	T	A	11: 93,984,365 (GRCm39)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,054,693 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,226,957 (GRCm39)	D19G	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
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
R4724:Sp4	UTSW	12	118,225,544 (GRCm39)	missense	probably benign
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'- CGGATTTAGTGGAAGACAGCAGTCG -3'
(R):5'- GGTCGGGTTTCAAACCACGTTTC -3'

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

Posted On

2013-07-24