Mutagenetix > Incidental Mutation

Incidental Mutation 'R1742:Sp8'

200451

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

MMRRC Submission

039774-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R1742 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

118846329-118852576 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118849817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 469 (H469R)

Ref Sequence

ENSEMBL: ENSMUSP00000065746 (fasta)

Gene Model

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

AlphaFold

Q8BMJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000063918
AA Change: H469R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: H469R

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

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,740,395		probably null	Het
Ankhd1	C	A	18: 36,625,265	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,866,980	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,280,199	I1228N	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bptf	A	G	11: 107,110,951	V445A	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,681,284	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,590,238	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,711,600	V120A	probably benign	Het
Clhc1	T	A	11: 29,557,647		probably null	Het
Col22a1	C	T	15: 71,801,913	G985S	unknown	Het
Col6a3	T	A	1: 90,813,794	I639F	probably damaging	Het
Cryga	C	A	1: 65,103,121	V38L	probably benign	Het
Dll3	T	C	7: 28,294,423	T530A	probably benign	Het
Dnah7a	G	A	1: 53,456,684	P3205S	probably benign	Het
Dpp10	T	A	1: 123,445,206	Y224F	probably damaging	Het
Fcrls	T	C	3: 87,259,043	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,905,553	R175*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm11487	T	C	4: 73,401,210	D99G	probably damaging	Het
Gm8332	C	T	12: 88,249,683	D140N	unknown	Het
Gpr33	T	C	12: 52,024,262		probably null	Het
Gse1	T	A	8: 120,566,950	V205E	probably damaging	Het
Herc4	C	A	10: 63,287,949	N461K	probably benign	Het
Ifi206	G	A	1: 173,481,971	T153I	probably benign	Het
Iqca	T	C	1: 90,098,051	I341V	probably benign	Het
Itsn1	T	G	16: 91,816,959		probably null	Het
Kcnk5	T	A	14: 20,141,857	Y412F	probably benign	Het
Lemd1	T	A	1: 132,228,298	I26K	probably damaging	Het
Lipc	A	T	9: 70,820,529	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,244,091	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,607,363	G73R	probably benign	Het
Myh11	A	T	16: 14,220,044	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,841,467	R822L	probably damaging	Het
Nav3	T	C	10: 109,769,213	T1000A	probably benign	Het
Nox4	T	C	7: 87,295,818	V94A	possibly damaging	Het
Olfr1115	T	A	2: 87,252,778	N280K	probably benign	Het
Olfr1230	G	T	2: 89,296,424	P282H	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Oxr1	T	C	15: 41,850,559	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,486,576	I473T	probably damaging	Het
Pgbd5	T	A	8: 124,380,307	E165D	probably damaging	Het
Pgpep1l	A	T	7: 68,237,054	V169D	probably damaging	Het
Phf12	C	T	11: 78,009,486	T136I	probably benign	Het
Pif1	T	A	9: 65,587,850	M14K	probably benign	Het
Pigr	A	G	1: 130,845,086	E347G	probably damaging	Het
Plekha3	G	A	2: 76,682,879	E103K	possibly damaging	Het
Ptgs2	A	G	1: 150,104,399	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,846,995		probably null	Het
Recql	T	C	6: 142,364,572	T511A	probably damaging	Het
Rgl2	T	A	17: 33,937,223		probably null	Het
Rpp25l	T	C	4: 41,712,763	Y4C	probably damaging	Het
Sass6	T	G	3: 116,607,477	C156G	probably damaging	Het
Sgta	T	G	10: 81,046,277	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,825,045	T282S	probably benign	Het
Smad4	T	C	18: 73,675,897	R100G	probably damaging	Het
Sox8	C	T	17: 25,567,941	V263M	probably damaging	Het
Spata1	A	T	3: 146,469,623		probably null	Het
Taar7a	G	A	10: 23,993,219	S88F	probably damaging	Het
Tnks2	T	C	19: 36,876,261	L749S	probably damaging	Het
Tollip	C	A	7: 141,892,855	R19L	probably damaging	Het
Tox2	G	A	2: 163,225,526	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,200,677	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,795,335	N65K	probably benign	Het
Vwf	T	C	6: 125,667,550	M2456T	probably benign	Het
Zfp526	A	G	7: 25,224,514	N66S	possibly damaging	Het
Zic1	T	C	9: 91,361,576	Y446C	probably damaging	Het

Other mutations in Sp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Sp8	APN	12	118848970	missense	probably damaging	1.00
IGL01783:Sp8	APN	12	118849024	missense	probably benign	0.01
IGL02745:Sp8	APN	12	118849591	missense	probably damaging	0.97
R0506:Sp8	UTSW	12	118848565	missense	possibly damaging	0.73
R0699:Sp8	UTSW	12	118848820	small deletion	probably benign
R1771:Sp8	UTSW	12	118849567	missense	probably damaging	1.00
R1776:Sp8	UTSW	12	118849567	missense	probably damaging	1.00
R1791:Sp8	UTSW	12	118849016	missense	possibly damaging	0.84
R1926:Sp8	UTSW	12	118849229	missense	possibly damaging	0.55
R2159:Sp8	UTSW	12	118848706	missense	possibly damaging	0.83
R2223:Sp8	UTSW	12	118849738	missense	probably damaging	0.99
R2304:Sp8	UTSW	12	118848569	missense	possibly damaging	0.92
R3777:Sp8	UTSW	12	118849015	missense	possibly damaging	0.84
R3778:Sp8	UTSW	12	118849015	missense	possibly damaging	0.84
R3779:Sp8	UTSW	12	118849015	missense	possibly damaging	0.84
R4323:Sp8	UTSW	12	118848436	missense	probably benign	0.33
R4360:Sp8	UTSW	12	118848665	missense	possibly damaging	0.90
R4428:Sp8	UTSW	12	118849203	missense	possibly damaging	0.87
R4883:Sp8	UTSW	12	118849070	missense	probably damaging	0.98
R4982:Sp8	UTSW	12	118848425	missense	probably damaging	0.99
R5053:Sp8	UTSW	12	118849604	missense	probably damaging	1.00
R5347:Sp8	UTSW	12	118848511	missense	possibly damaging	0.91
R5755:Sp8	UTSW	12	118849087	missense	probably damaging	0.96
R6219:Sp8	UTSW	12	118848667	missense	probably benign	0.27
R7672:Sp8	UTSW	12	118849335	missense	possibly damaging	0.47
R7793:Sp8	UTSW	12	118849409	missense	probably damaging	0.98
R8548:Sp8	UTSW	12	118849175	missense	possibly damaging	0.93
R8990:Sp8	UTSW	12	118849387	missense	possibly damaging	0.95
R9139:Sp8	UTSW	12	118848439	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGGCTGCATAGCTGCCACATC -3'
(R):5'- TGAACACTGTTCTTTCCAAGGCCAC -3'

Sequencing Primer
(F):5'- TTTACGCGCTCCGACGAG -3'
(R):5'- ATTCAGCCACCGATGTGTG -3'

Posted On

2014-05-23