Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Sp8'

384939

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118846329-118852576 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118848425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 5 (T5I)

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: T5I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: T5I

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

possibly damaging
Transcript: ENSMUST00000223305
AA Change: T5I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	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
R1742:Sp8	UTSW	12	118849817	missense	probably benign	0.04
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
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'- TGTGCAGCAGCTAGAGATG -3'
(R):5'- AGCTAAAAGAGTCGGACACC -3'

Sequencing Primer
(F):5'- CAGCAGCTAGAGATGGGGAGC -3'
(R):5'- AGAGTCGGACACCAGGGC -3'

Posted On

2016-05-10