Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Sp4'

279819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sp4

Ensembl Gene

ENSMUSG00000025323

Gene Name

trans-acting transcription factor 4

Synonyms

5730497N03Rik, HF1-b, HF-1b

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118263284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 254 (T254N)

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
AA Change: T254N

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: T254N

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 damaging
Transcript: ENSMUST00000222314
AA Change: T254N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,659,138 (GRCm39)	T206M	probably benign	Het
Adcy3	T	A	12: 4,184,390 (GRCm39)	V22D	possibly damaging	Het
Alb	G	A	5: 90,611,990 (GRCm39)	E140K	probably benign	Het
Aph1a	G	A	3: 95,803,125 (GRCm39)	V193I	probably damaging	Het
Asb2	G	A	12: 103,299,755 (GRCm39)	R178*	probably null	Het
Celf3	A	T	3: 94,394,108 (GRCm39)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,228,635 (GRCm39)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,079,625 (GRCm39)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,194,414 (GRCm39)	L1709R	probably damaging	Het
Dst	T	C	1: 34,229,199 (GRCm39)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,450,130 (GRCm39)	N149I	probably benign	Het
Fancm	A	G	12: 65,142,558 (GRCm39)	D472G	probably benign	Het
Fasn	T	C	11: 120,702,762 (GRCm39)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,180,122 (GRCm39)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,943,348 (GRCm39)	T747K	probably damaging	Het
Fer	A	G	17: 64,445,923 (GRCm39)	M795V	probably benign	Het
Gm5916	A	G	9: 36,039,970 (GRCm39)	L6P	probably damaging	Het
Gpr139	A	G	7: 118,744,355 (GRCm39)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 26,395,976 (GRCm39)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 151,031,762 (GRCm39)	F408L	probably damaging	Het
Kel	A	G	6: 41,679,323 (GRCm39)	S147P	probably benign	Het
Klra5	A	T	6: 129,888,307 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Med18	A	T	4: 132,186,977 (GRCm39)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,502,007 (GRCm39)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,345,795 (GRCm39)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,517,564 (GRCm39)	E102*	probably null	Het
Or14j1	A	G	17: 38,146,169 (GRCm39)	Q93R	possibly damaging	Het
Or3a1	A	G	11: 74,225,862 (GRCm39)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,727,005 (GRCm39)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,613,161 (GRCm39)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,667,768 (GRCm39)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,637,282 (GRCm39)		probably null	Het
Pla2g4a	A	T	1: 149,776,950 (GRCm39)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,059,501 (GRCm39)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,290,540 (GRCm39)	W539*	probably null	Het
Rae1	G	A	2: 172,845,306 (GRCm39)	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563 (GRCm39)	F512I	probably damaging	Het
Rfx6	A	G	10: 51,602,952 (GRCm39)	D823G	possibly damaging	Het
Samt3	A	T	X: 85,090,759 (GRCm39)	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,605,438 (GRCm39)	N134S	probably null	Het
Selenoo	T	C	15: 88,984,173 (GRCm39)	V663A	probably damaging	Het
Spdya	A	G	17: 71,885,242 (GRCm39)	K232R	probably benign	Het
Stom	A	T	2: 35,210,401 (GRCm39)	V201E	probably benign	Het
Sycp3	A	G	10: 88,302,334 (GRCm39)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,000,425 (GRCm39)		probably benign	Het
Vmn1r226	T	C	17: 20,907,926 (GRCm39)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,372,349 (GRCm39)	G47D	probably damaging	Het
Vwf	T	G	6: 125,623,318 (GRCm39)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,037,687 (GRCm39)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,335,546 (GRCm39)	D1761V	probably damaging	Het

Other mutations in Sp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16