Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Sp2'

234536

Institutional Source

Beutler Lab

Gene Symbol

Sp2

Ensembl Gene

ENSMUSG00000018678

Gene Name

Sp2 transcription factor

Synonyms

MMRRC Submission

040156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96844167-96873785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96852834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 30 (D30G)

Ref Sequence

ENSEMBL: ENSMUSP00000103250 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062652
AA Change: D24G

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

SMART Domains

Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: D24G

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

possibly damaging
Transcript: ENSMUST00000107623
AA Change: D24G

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

SMART Domains

Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: D24G

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

possibly damaging
Transcript: ENSMUST00000107624
AA Change: D30G

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

SMART Domains

Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: D30G

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

possibly damaging
Transcript: ENSMUST00000107626
AA Change: D30G

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

SMART Domains

Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: D30G

Domain	Start	End	E-Value	Type
low complexity region	48	65	N/A	INTRINSIC
low complexity region	209	222	N/A	INTRINSIC
low complexity region	287	319	N/A	INTRINSIC
low complexity region	371	381	N/A	INTRINSIC
low complexity region	426	437	N/A	INTRINSIC
ZnF_C2H2	525	549	5.14e-3	SMART
ZnF_C2H2	555	579	8.47e-4	SMART
ZnF_C2H2	585	607	3.58e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186326

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cars2	C	T	8: 11,580,299 (GRCm39)	A247T	possibly damaging	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,885,461 (GRCm39)	A461S	unknown	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Ermp1	T	C	19: 29,614,798 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	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
PIT4696001:Sp2	UTSW	11	96,852,799 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTGAGTTCCTTCACTTCATGG -3'

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

Posted On

2014-10-01