Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Sp4'

402171

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

042783-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R5208 (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 118263281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 255 (L255P)

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: L255P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: L255P

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: L255P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,619,008 (GRCm39)		probably null	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711 (GRCm38)	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Gulp1	T	G	1: 44,820,199 (GRCm39)	H235Q	probably benign	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or4f54	A	T	2: 111,122,946 (GRCm39)	E111V	probably damaging	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pex2	C	T	3: 5,626,428 (GRCm39)	R127H	probably benign	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	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
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'- ATTCAGGCATAGTACTGGCGG -3'
(R):5'- TGGAAGGCCAGCAAATTCAAATC -3'

Sequencing Primer
(F):5'- CGGGAGCAGTGCTGGTG -3'
(R):5'- TGCAGGGTCAAATTCAGCTC -3'

Posted On

2016-07-22