Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Sp8'

235068

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R2159 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

118810064-118816311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118812441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000152523 (fasta)

Gene Model

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

AlphaFold

Q8BMJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063918
AA Change: S99P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: S99P

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: S99P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
Atp10b	C	T	11: 43,042,680 (GRCm39)	T80I	possibly damaging	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Btbd1	A	T	7: 81,450,804 (GRCm39)	D325E	possibly damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,702,891 (GRCm39)	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	probably benign	Het

Other mutations in Sp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Sp8	APN	12	118,812,705 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCGGTAAAGGCTTCCACC -3'
(R):5'- ACTGGCTGATGGGAGCTATC -3'

Sequencing Primer
(F):5'- GTAAAGGCTTCCACCCTTGG -3'
(R):5'- ATGGGAGCTATCCTGCGAG -3'

Posted On

2014-10-01