Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Sp2'

556806

Institutional Source

Beutler Lab

Gene Symbol

Sp2

Ensembl Gene

ENSMUSG00000018678

Gene Name

Sp2 transcription factor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4696001 (G1)

Quality Score

135.008

Status

Validated

Chromosome

Chromosomal Location

96844167-96873785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96852799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000103250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062652] [ENSMUST00000107623] [ENSMUST00000107624]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000062652
AA Change: T36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: T36A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	203	216	N/A	INTRINSIC
low complexity region	281	313	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
ZnF_C2H2	519	543	5.14e-3	SMART
ZnF_C2H2	549	573	8.47e-4	SMART
ZnF_C2H2	579	601	3.58e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107623
AA Change: T36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: T36A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	203	216	N/A	INTRINSIC
low complexity region	281	313	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
ZnF_C2H2	519	543	5.14e-3	SMART
ZnF_C2H2	549	573	8.47e-4	SMART
ZnF_C2H2	579	601	3.58e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107624
AA Change: T42A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: T42A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	203	216	N/A	INTRINSIC
low complexity region	281	313	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
ZnF_C2H2	519	543	5.14e-3	SMART
ZnF_C2H2	549	573	8.47e-4	SMART
ZnF_C2H2	579	601	3.58e-2	SMART

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. The protein can act as a transcriptional activator or repressor, depending on the promoter and cell type. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: No homozygous null mice survived beyond E10.5, with decrease embryo size and embryonic growth retardation starting at E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,384,209 (GRCm39)		probably null	Het
Adam20	T	A	8: 41,247,985 (GRCm39)	Y32N	probably benign	Het
Adm	T	C	7: 110,227,496 (GRCm39)	V4A	probably benign	Het
Anpep	G	A	7: 79,489,212 (GRCm39)	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,672,341 (GRCm39)	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,396,069 (GRCm39)	M12K	possibly damaging	Het
Cad	T	C	5: 31,229,438 (GRCm39)	L1435P	probably damaging	Het
Cat	T	C	2: 103,302,157 (GRCm39)	D180G	probably damaging	Het
Cntln	C	T	4: 84,892,237 (GRCm39)	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,540,404 (GRCm39)	R339Q	probably benign	Het
Defa22	T	C	8: 21,652,352 (GRCm39)	L6P	probably damaging	Het
Dr1	T	A	5: 108,417,604 (GRCm39)	I50K	probably damaging	Het
Eln	C	T	5: 134,766,032 (GRCm39)	G57E	unknown	Het
Fat4	T	C	3: 38,943,153 (GRCm39)	I682T	probably benign	Het
Fat4	C	A	3: 39,036,506 (GRCm39)	A3386E	probably damaging	Het
Fcgr3	T	A	1: 170,885,319 (GRCm39)	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,573,993 (GRCm39)	L115M	probably damaging	Het
Herc1	T	A	9: 66,386,291 (GRCm39)	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,125,145 (GRCm39)	S106P	probably benign	Het
Kcns3	C	T	12: 11,142,749 (GRCm39)		probably benign	Het
Kndc1	T	A	7: 139,512,830 (GRCm39)	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,637,180 (GRCm39)	S690A	probably benign	Het
Lrfn5	T	C	12: 61,890,343 (GRCm39)	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,509,861 (GRCm39)	H450Q	probably damaging	Het
Mdm1	A	G	10: 117,994,445 (GRCm39)	T485A	probably benign	Het
Megf10	T	C	18: 57,410,760 (GRCm39)	C690R	probably damaging	Het
Myo7a	A	G	7: 97,712,806 (GRCm39)	M1723T	probably benign	Het
Nrip3	A	T	7: 109,364,714 (GRCm39)	C137*	probably null	Het
Or5w22	T	A	2: 87,363,124 (GRCm39)	I249N	probably damaging	Het
Pde4a	T	A	9: 21,122,297 (GRCm39)	M731K	probably benign	Het
Pebp1	A	G	5: 117,421,527 (GRCm39)	L117P	probably damaging	Het
Phc2	T	C	4: 128,598,995 (GRCm39)	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,284,713 (GRCm39)	F50S	probably benign	Het
Prpf4b	A	G	13: 35,083,825 (GRCm39)	S865G	probably benign	Het
Ptpn5	C	T	7: 46,738,354 (GRCm39)	V243M	probably benign	Het
Rora	T	C	9: 69,271,841 (GRCm39)	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,432,204 (GRCm39)	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,063,985 (GRCm39)	G95D	probably benign	Het
Sec24b	A	G	3: 129,788,040 (GRCm39)	V820A	probably benign	Het
Sim2	A	G	16: 93,895,168 (GRCm39)	D62G	possibly damaging	Het
Slc17a4	A	T	13: 24,084,497 (GRCm39)	V429D	probably benign	Het
Spata3	G	A	1: 85,952,169 (GRCm39)	R141Q	unknown	Het
Sptbn2	A	T	19: 4,795,605 (GRCm39)	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,655,473 (GRCm39)	H501R	probably benign	Het
Tec	G	A	5: 72,931,178 (GRCm39)	T262M	possibly damaging	Het
Timm9	A	T	12: 71,172,305 (GRCm39)	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701 (GRCm39)		probably null	Het
Tmbim4	A	G	10: 120,053,529 (GRCm39)	I109M	probably benign	Het
Tmc7	T	C	7: 118,163,566 (GRCm39)	K110E	probably benign	Het
Tmem107	C	T	11: 68,963,399 (GRCm39)	P136L	probably benign	Het
Ttc21b	T	C	2: 66,061,563 (GRCm39)		probably null	Het
Ubd	A	C	17: 37,506,335 (GRCm39)	T74P	probably damaging	Het
Vps11	A	G	9: 44,269,486 (GRCm39)	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,376,448 (GRCm39)	T146A	probably benign	Het
Wdr38	G	T	2: 38,889,984 (GRCm39)		probably null	Het
Yes1	T	A	5: 32,841,969 (GRCm39)	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,569,323 (GRCm39)	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,635,949 (GRCm39)	V126A	possibly damaging	Het

Other mutations in Sp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00228:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00467:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00470:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00476:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00505:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL00535:Sp2	APN	11	96,845,387 (GRCm39)	missense	probably damaging	1.00
IGL01865:Sp2	APN	11	96,851,868 (GRCm39)	missense	probably damaging	1.00
IGL02170:Sp2	APN	11	96,847,036 (GRCm39)	missense	probably damaging	0.99
IGL03342:Sp2	APN	11	96,852,588 (GRCm39)	missense	probably damaging	0.99
R0082:Sp2	UTSW	11	96,852,525 (GRCm39)	missense	probably damaging	1.00
R0086:Sp2	UTSW	11	96,848,253 (GRCm39)	missense	probably damaging	1.00
R0525:Sp2	UTSW	11	96,846,924 (GRCm39)	critical splice donor site	probably benign
R0789:Sp2	UTSW	11	96,852,202 (GRCm39)	missense	probably benign	0.18
R1463:Sp2	UTSW	11	96,854,282 (GRCm39)	critical splice acceptor site	probably benign
R1941:Sp2	UTSW	11	96,846,762 (GRCm39)	missense	probably damaging	1.00
R2049:Sp2	UTSW	11	96,852,191 (GRCm39)	missense	probably benign	0.09
R2153:Sp2	UTSW	11	96,852,834 (GRCm39)	missense	possibly damaging	0.92
R2230:Sp2	UTSW	11	96,846,762 (GRCm39)	missense	probably damaging	1.00
R2232:Sp2	UTSW	11	96,846,762 (GRCm39)	missense	probably damaging	1.00
R2237:Sp2	UTSW	11	96,846,762 (GRCm39)	missense	probably damaging	1.00
R2238:Sp2	UTSW	11	96,846,762 (GRCm39)	missense	probably damaging	1.00
R2247:Sp2	UTSW	11	96,852,844 (GRCm39)	splice site	probably null
R4638:Sp2	UTSW	11	96,848,300 (GRCm39)	missense	possibly damaging	0.89
R5016:Sp2	UTSW	11	96,846,658 (GRCm39)	missense	probably damaging	0.96
R5099:Sp2	UTSW	11	96,852,175 (GRCm39)	missense	probably damaging	0.99
R5125:Sp2	UTSW	11	96,846,664 (GRCm39)	missense	probably benign	0.00
R5178:Sp2	UTSW	11	96,846,664 (GRCm39)	missense	probably benign	0.00
R5828:Sp2	UTSW	11	96,851,811 (GRCm39)	intron	probably benign
R6286:Sp2	UTSW	11	96,852,372 (GRCm39)	missense	probably benign	0.01
R6997:Sp2	UTSW	11	96,848,552 (GRCm39)	missense	possibly damaging	0.94
R7743:Sp2	UTSW	11	96,851,935 (GRCm39)	missense	probably damaging	1.00
R7999:Sp2	UTSW	11	96,852,663 (GRCm39)	missense	probably damaging	1.00
R8461:Sp2	UTSW	11	96,846,739 (GRCm39)	missense	possibly damaging	0.63
R8729:Sp2	UTSW	11	96,852,099 (GRCm39)	missense	possibly damaging	0.82
R9355:Sp2	UTSW	11	96,852,231 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGGGAGCCCTGAATCTGAAG -3'
(R):5'- TTCCTTCACTTCATGGAGAAACC -3'

Sequencing Primer
(F):5'- GAGCCCTGAATCTGAAGTATATTTCC -3'
(R):5'- CCAGCAGGAGCCAATGCAG -3'

Posted On

2019-06-07