Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Sp4'

57537

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

038815-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118263314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 244 (L244P)

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 damaging
Transcript: ENSMUST00000026367
AA Change: L244P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: L244P

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: L244P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	probably 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
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'- CTGGTGGTGGGCGTAGAAACTAAC -3'
(R):5'- CCAAGCGGTAGTGTACAGTACCAAG -3'

Sequencing Primer
(F):5'- TGGGCGTAGAAACTAACTGATTCC -3'
(R):5'- GTAGTGTACAGTACCAAGTGATCCC -3'

Posted On

2013-07-11