Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Sp4'

669457

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

068563-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R8709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118198668-118265175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118263189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 286 (T286A)

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: T286A

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: T286A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	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
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
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'- GCGTTCAGAACTACTGGCTG -3'
(R):5'- GGCAAATCAGACAGTTCCAGTAC -3'

Sequencing Primer
(F):5'- CAGAACTACTGGCTGATGTGC -3'
(R):5'- GTTCCAGTACAAATTAGACCTGGCG -3'

Posted On

2021-04-30