Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:Sp4'

559878

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

045336-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118263807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 80 (Q80K)

Ref Sequence

ENSEMBL: ENSMUSP00000152603 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: Q80K

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

possibly damaging
Transcript: ENSMUST00000222314
AA Change: Q80K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,179,242 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Actl11	A	T	9: 107,806,069 (GRCm39)	K131*	probably null	Het
Adam39	A	T	8: 41,277,812 (GRCm39)	R68*	probably null	Het
Akap7	A	T	10: 25,147,405 (GRCm39)	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,338,721 (GRCm39)	A14S	probably benign	Het
Ccdc141	T	G	2: 76,879,927 (GRCm39)	N632T	probably benign	Het
Ccm2	T	C	11: 6,546,302 (GRCm39)	S435P	probably damaging	Het
Cd36	A	G	5: 18,019,187 (GRCm39)	L178P	probably damaging	Het
Cd7	T	C	11: 120,929,075 (GRCm39)	I59V	probably benign	Het
Cds2	T	A	2: 132,135,204 (GRCm39)	S32T	probably benign	Het
Cep19	A	G	16: 31,925,904 (GRCm39)	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753 (GRCm39)	P68S	unknown	Het
Col20a1	A	G	2: 180,649,024 (GRCm39)	H1011R	probably damaging	Het
Cspg4b	A	T	13: 113,504,463 (GRCm39)	D1864V		Het
D7Ertd443e	A	G	7: 133,896,851 (GRCm39)	V513A	probably damaging	Het
Egfr	C	T	11: 16,818,162 (GRCm39)	P228L	probably damaging	Het
Fam243	C	T	16: 92,118,037 (GRCm39)	V84M	probably damaging	Het
Fam78b	A	G	1: 166,906,131 (GRCm39)	R97G	probably damaging	Het
Flt1	C	T	5: 147,540,386 (GRCm39)	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,288,050 (GRCm39)	N96Y	probably damaging	Het
Gm7168	T	A	17: 14,169,622 (GRCm39)	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,424,203 (GRCm39)	N683S	unknown	Het
Ice2	C	T	9: 69,335,782 (GRCm39)	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,079,260 (GRCm39)	V81A	not run	Het
Irs1	A	G	1: 82,265,177 (GRCm39)	I1013T	probably benign	Het
Itih4	T	C	14: 30,621,432 (GRCm39)	S832P	probably damaging	Het
Klhl1	A	T	14: 96,517,513 (GRCm39)	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,348,601 (GRCm39)	S2698L	unknown	Het
Map4k4	T	C	1: 40,058,829 (GRCm39)	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823 (GRCm39)	G1519W	probably damaging	Het
Mga	T	A	2: 119,747,809 (GRCm39)	D653E	probably damaging	Het
Npas1	T	C	7: 16,208,733 (GRCm39)	E48G	probably damaging	Het
Nup188	G	A	2: 30,231,842 (GRCm39)		probably null	Het
Or1p1b	G	T	11: 74,130,394 (GRCm39)	M1I	probably null	Het
Or3a4	T	A	11: 73,945,223 (GRCm39)	M121L	probably damaging	Het
Or4c110	G	A	2: 88,832,075 (GRCm39)	L186F		Het
Or51a39	A	G	7: 102,362,873 (GRCm39)	V249A	possibly damaging	Het
Or55b4	A	T	7: 102,133,574 (GRCm39)	V251D	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Oxct1	T	C	15: 4,158,383 (GRCm39)	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,652,341 (GRCm39)	G13W	probably damaging	Het
Pex11g	A	G	8: 3,509,237 (GRCm39)	V230A	probably benign	Het
Pop1	C	T	15: 34,510,525 (GRCm39)	S439L	probably damaging	Het
Ptpn9	T	A	9: 56,929,533 (GRCm39)	H83Q	probably benign	Het
Qrfp	C	T	2: 31,698,704 (GRCm39)	R76H	probably benign	Het
Slc30a3	A	G	5: 31,246,139 (GRCm39)	V197A	probably benign	Het
Slc8a3	T	C	12: 81,361,047 (GRCm39)	N591D	possibly damaging	Het
Spock1	C	T	13: 58,055,316 (GRCm39)	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,391,674 (GRCm39)	P109Q	probably damaging	Het
Suz12	T	A	11: 79,904,309 (GRCm39)	F239L	probably damaging	Het
Tbx3	A	G	5: 119,813,648 (GRCm39)	Y248C	probably damaging	Het
Trabd2b	T	C	4: 114,266,637 (GRCm39)	L217P	probably damaging	Het
Ubxn11	A	C	4: 133,853,726 (GRCm39)	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,401,884 (GRCm39)	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,023,900 (GRCm39)	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,592,347 (GRCm39)		probably null	Het
Vps13c	G	A	9: 67,853,107 (GRCm39)	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,275,032 (GRCm39)	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,866,209 (GRCm39)	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908 (GRCm39)	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,547 (GRCm39)	D133G	probably benign	Het
Zcchc14	T	C	8: 122,335,200 (GRCm39)	I307V	unknown	Het
Zfp933	G	A	4: 147,910,636 (GRCm39)	T320I	probably benign	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
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
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'- ACTGTACACTACCGCTTGGG -3'
(R):5'- GACTGCTGTCTTCCACTAAATCCG -3'

Sequencing Primer
(F):5'- ATTGATTAGGGGTGGAAGGATTACC -3'
(R):5'- GTCTTCCACTAAATCCGCCCAC -3'

Posted On

2019-06-26