Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Sp8'

694231

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118810064-118816311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118812174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 10 (G10S)

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: G10S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: G10S

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 damaging
Transcript: ENSMUST00000223305
AA Change: G10S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGCAGCAGCTAGAGATG -3'
(R):5'- AGCTAAAAGAGTCGGACACC -3'

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

Posted On

2022-01-20