Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Sp2'

417285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sp2

Ensembl Gene

ENSMUSG00000018678

Gene Name

Sp2 transcription factor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

96844167-96873785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96852588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

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: V106A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: V106A

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: V106A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: V106A

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: V112A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: V112A

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

noncoding transcript
Transcript: ENSMUST00000107628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186326

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,916,910 (GRCm39)	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Flg2	A	G	3: 93,108,542 (GRCm39)	K190R	probably damaging	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Hif3a	C	T	7: 16,775,047 (GRCm39)	R515H	possibly damaging	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Mtrf1	T	A	14: 79,653,312 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,653,420 (GRCm39)	D365G	possibly damaging	Het
Mtrf1	C	T	14: 79,653,311 (GRCm39)		probably benign	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,013,617 (GRCm39)	D544E	probably benign	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	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
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
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

Posted On

2016-08-02