Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01358:Sp8'

75633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

IGL01358

Quality Score

Status

Chromosome

Chromosomal Location

118810064-118816311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118812705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 187 (S187T)

Ref Sequence

ENSEMBL: ENSMUSP00000065746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063918] [ENSMUST00000223305]

AlphaFold

Q8BMJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000063918
AA Change: S187T

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

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: S187T

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
low complexity region	95	119	N/A	INTRINSIC
low complexity region	132	149	N/A	INTRINSIC
low complexity region	197	209	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
ZnF_C2H2	356	380	2.63e0	SMART
ZnF_C2H2	386	410	1.84e-4	SMART
ZnF_C2H2	416	438	7.9e-4	SMART
low complexity region	439	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223305

Coding Region Coverage

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 an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, and neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,335,579 (GRCm39)	Y316C	probably damaging	Het
Atp6v0a4	T	G	6: 38,051,145 (GRCm39)	D411A	probably damaging	Het
Calr3	A	T	8: 73,181,057 (GRCm39)	Y178*	probably null	Het
Ces1e	A	G	8: 93,940,778 (GRCm39)	L298P	probably damaging	Het
Clk3	T	C	9: 57,661,875 (GRCm39)	T391A	probably damaging	Het
Cr2	A	G	1: 194,842,128 (GRCm39)	I275T	probably damaging	Het
Cul9	G	T	17: 46,849,240 (GRCm39)	P635H	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dscam	A	T	16: 96,411,543 (GRCm39)	S1778T	possibly damaging	Het
Dsg2	T	A	18: 20,734,850 (GRCm39)	Y943N	probably damaging	Het
Eml1	A	T	12: 108,480,727 (GRCm39)	T398S	probably benign	Het
Epha3	G	A	16: 63,416,109 (GRCm39)		probably benign	Het
Hacl1	A	T	14: 31,348,374 (GRCm39)	M200K	probably benign	Het
Ighmbp2	T	A	19: 3,318,817 (GRCm39)	S420C	probably damaging	Het
Kcnt1	T	A	2: 25,806,017 (GRCm39)	I1200N	probably damaging	Het
Kctd21	T	A	7: 96,996,581 (GRCm39)	L18Q	probably damaging	Het
Krt78	A	C	15: 101,854,698 (GRCm39)	S1038A	probably benign	Het
Lrp2	C	A	2: 69,382,814 (GRCm39)		probably benign	Het
Lrrc41	T	A	4: 115,932,784 (GRCm39)	V60D	probably benign	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Mest	T	A	6: 30,746,330 (GRCm39)		probably benign	Het
Nlrp1b	G	A	11: 71,072,682 (GRCm39)	T387I	possibly damaging	Het
Notch3	C	T	17: 32,363,721 (GRCm39)	D1140N	probably damaging	Het
Nxph2	A	G	2: 23,290,086 (GRCm39)	N146S	probably damaging	Het
Olfm1	T	C	2: 28,119,507 (GRCm39)	C381R	probably damaging	Het
Or56b1b	T	A	7: 108,164,409 (GRCm39)	R198W	probably benign	Het
Or5p81	C	T	7: 108,266,869 (GRCm39)	P82L	possibly damaging	Het
Parp11	C	T	6: 127,448,526 (GRCm39)	Q48*	probably null	Het
Pgc	T	C	17: 48,041,591 (GRCm39)	V175A	probably benign	Het
Pira12	A	G	7: 3,898,686 (GRCm39)	V254A	probably benign	Het
Plxna1	G	T	6: 89,299,732 (GRCm39)	T1679N	probably damaging	Het
Pnpt1	G	T	11: 29,088,425 (GRCm39)	L229F	possibly damaging	Het
Ppp1r12b	A	T	1: 134,819,897 (GRCm39)	L282Q	probably damaging	Het
Rag2	C	A	2: 101,460,365 (GRCm39)	A225D	possibly damaging	Het
Ralgps1	T	C	2: 33,033,061 (GRCm39)	D456G	possibly damaging	Het
Rasgrf2	T	A	13: 92,130,749 (GRCm39)	T170S	probably benign	Het
Rel	C	T	11: 23,711,155 (GRCm39)	S4N	probably benign	Het
Rims3	C	T	4: 120,748,700 (GRCm39)	S307F	possibly damaging	Het
Rnf123	A	G	9: 107,946,381 (GRCm39)	L290P	probably damaging	Het
Rtn4r	G	T	16: 17,969,260 (GRCm39)	M229I	possibly damaging	Het
Rusc2	G	A	4: 43,426,116 (GRCm39)	R1407Q	probably damaging	Het
Sec23ip	A	T	7: 128,354,521 (GRCm39)	Q259L	possibly damaging	Het
Slc24a4	G	A	12: 102,189,894 (GRCm39)	C204Y	probably benign	Het
Slc27a3	T	C	3: 90,293,859 (GRCm39)	T542A	probably damaging	Het
Smarcal1	A	T	1: 72,655,724 (GRCm39)	I668F	possibly damaging	Het
Snap91	C	A	9: 86,688,613 (GRCm39)	V311F	probably damaging	Het
Tcerg1	T	C	18: 42,657,342 (GRCm39)	S275P	unknown	Het
Vwce	T	A	19: 10,641,773 (GRCm39)	V833D	possibly damaging	Het
Zbtb8b	A	G	4: 129,327,052 (GRCm39)	S38P	probably damaging	Het
Zfp598	T	C	17: 24,900,398 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,475 (GRCm39)	E309K	possibly damaging	Het

Other mutations in Sp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Sp8	APN	12	118,812,759 (GRCm39)	missense	probably benign	0.01
IGL02745:Sp8	APN	12	118,813,326 (GRCm39)	missense	probably damaging	0.97
R0506:Sp8	UTSW	12	118,812,300 (GRCm39)	missense	possibly damaging	0.73
R0699:Sp8	UTSW	12	118,812,555 (GRCm39)	small deletion	probably benign
R1742:Sp8	UTSW	12	118,813,552 (GRCm39)	missense	probably benign	0.04
R1771:Sp8	UTSW	12	118,813,302 (GRCm39)	missense	probably damaging	1.00
R1776:Sp8	UTSW	12	118,813,302 (GRCm39)	missense	probably damaging	1.00
R1791:Sp8	UTSW	12	118,812,751 (GRCm39)	missense	possibly damaging	0.84
R1926:Sp8	UTSW	12	118,812,964 (GRCm39)	missense	possibly damaging	0.55
R2159:Sp8	UTSW	12	118,812,441 (GRCm39)	missense	possibly damaging	0.83
R2223:Sp8	UTSW	12	118,813,473 (GRCm39)	missense	probably damaging	0.99
R2304:Sp8	UTSW	12	118,812,304 (GRCm39)	missense	possibly damaging	0.92
R3777:Sp8	UTSW	12	118,812,750 (GRCm39)	missense	possibly damaging	0.84
R3778:Sp8	UTSW	12	118,812,750 (GRCm39)	missense	possibly damaging	0.84
R3779:Sp8	UTSW	12	118,812,750 (GRCm39)	missense	possibly damaging	0.84
R4323:Sp8	UTSW	12	118,812,171 (GRCm39)	missense	probably benign	0.33
R4360:Sp8	UTSW	12	118,812,400 (GRCm39)	missense	possibly damaging	0.90
R4428:Sp8	UTSW	12	118,812,938 (GRCm39)	missense	possibly damaging	0.87
R4883:Sp8	UTSW	12	118,812,805 (GRCm39)	missense	probably damaging	0.98
R4982:Sp8	UTSW	12	118,812,160 (GRCm39)	missense	probably damaging	0.99
R5053:Sp8	UTSW	12	118,813,339 (GRCm39)	missense	probably damaging	1.00
R5347:Sp8	UTSW	12	118,812,246 (GRCm39)	missense	possibly damaging	0.91
R5755:Sp8	UTSW	12	118,812,822 (GRCm39)	missense	probably damaging	0.96
R6219:Sp8	UTSW	12	118,812,402 (GRCm39)	missense	probably benign	0.27
R7672:Sp8	UTSW	12	118,813,070 (GRCm39)	missense	possibly damaging	0.47
R7793:Sp8	UTSW	12	118,813,144 (GRCm39)	missense	probably damaging	0.98
R8548:Sp8	UTSW	12	118,812,910 (GRCm39)	missense	possibly damaging	0.93
R8990:Sp8	UTSW	12	118,813,122 (GRCm39)	missense	possibly damaging	0.95
R9139:Sp8	UTSW	12	118,812,174 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07