Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Sp8'

197052

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

MMRRC Submission

039807-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R1776 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

118810064-118816311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118813302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 386 (F386I)

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: F386I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: F386I

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

Meta Mutation Damage Score

0.7496

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,711,058 (GRCm39)		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,464,767 (GRCm39)		probably benign	Het
A2m	C	G	6: 121,618,383 (GRCm39)	F225L	probably damaging	Het
Adamts19	T	A	18: 59,087,692 (GRCm39)	I574N	probably damaging	Het
Ankfn1	T	C	11: 89,417,300 (GRCm39)	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,780,361 (GRCm39)	N1804K	probably benign	Het
Ankle1	G	T	8: 71,861,918 (GRCm39)	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Cass4	A	T	2: 172,269,615 (GRCm39)	I568L	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,169,086 (GRCm39)	A36V	probably benign	Het
Cep57	A	T	9: 13,730,170 (GRCm39)	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,519,681 (GRCm39)	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,142,500 (GRCm39)		probably benign	Het
Crabp2	C	A	3: 87,860,301 (GRCm39)	T125K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,990,091 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,380,593 (GRCm39)	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,599,362 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Fbn1	A	C	2: 125,163,654 (GRCm39)	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,532,835 (GRCm39)		probably null	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gm5250	A	G	1: 13,132,564 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,067,007 (GRCm39)	S503P	possibly damaging	Het
Herc4	T	A	10: 63,099,950 (GRCm39)	C124*	probably null	Het
Ift27	T	C	15: 78,050,181 (GRCm39)	D76G	probably null	Het
Igdcc3	C	T	9: 65,090,034 (GRCm39)	Q550*	probably null	Het
Igsf6	T	A	7: 120,667,522 (GRCm39)	I165F	probably damaging	Het
Il31ra	T	C	13: 112,677,773 (GRCm39)	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,690,045 (GRCm39)	D247N	probably benign	Het
Kcnq2	T	A	2: 180,742,350 (GRCm39)	T394S	probably benign	Het
Mia2	A	G	12: 59,196,361 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,591,933 (GRCm39)	Q419R	probably benign	Het
Mylk	A	G	16: 34,773,152 (GRCm39)	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlk	T	A	11: 78,477,853 (GRCm39)	M297L	probably benign	Het
Nsl1	G	T	1: 190,795,385 (GRCm39)	M50I	probably benign	Het
Numa1	A	G	7: 101,660,257 (GRCm39)	T441A	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10d1c	G	A	9: 38,894,190 (GRCm39)	S50F	probably damaging	Het
Or6c69b	C	T	10: 129,627,000 (GRCm39)	V153I	probably benign	Het
Or8b12i	G	A	9: 20,082,105 (GRCm39)	T254I	probably benign	Het
Ovgp1	A	T	3: 105,885,114 (GRCm39)	H151L	possibly damaging	Het
Pigz	G	A	16: 31,763,397 (GRCm39)	E152K	probably damaging	Het
Plxna1	A	T	6: 89,312,446 (GRCm39)	D779E	probably benign	Het
Ppil4	A	T	10: 7,686,201 (GRCm39)	E353V	probably benign	Het
Ptprq	C	T	10: 107,520,950 (GRCm39)	G741S	probably damaging	Het
Rplp0	T	C	5: 115,700,524 (GRCm39)	Y231H	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,629,050 (GRCm39)	E117G	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,787,598 (GRCm39)	M198K	probably damaging	Het
Sdhd	T	C	9: 50,508,500 (GRCm39)	K122R	probably benign	Het
Senp2	T	C	16: 21,861,810 (GRCm39)		probably benign	Het
Setd3	C	A	12: 108,131,420 (GRCm39)	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,244,927 (GRCm39)		probably benign	Het
She	T	A	3: 89,739,345 (GRCm39)	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,094,526 (GRCm39)	T331I	probably benign	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,668,447 (GRCm39)	S697P	probably benign	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Spata31d1b	A	G	13: 59,864,381 (GRCm39)	T510A	probably benign	Het
Srgap2	T	A	1: 131,339,588 (GRCm39)	I125F	probably damaging	Het
Stab2	T	A	10: 86,793,680 (GRCm39)	I472F	possibly damaging	Het
Taar7f	C	T	10: 23,925,546 (GRCm39)	R47C	probably benign	Het
Tbc1d19	T	A	5: 54,046,653 (GRCm39)		probably null	Het
Tbc1d21	T	A	9: 58,274,011 (GRCm39)		probably benign	Het
Tcaf1	A	G	6: 42,655,389 (GRCm39)	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,004,035 (GRCm39)	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,946,854 (GRCm39)	T385A	probably damaging	Het
Tgm2	T	C	2: 157,973,379 (GRCm39)	N244S	probably benign	Het
Thoc5	T	C	11: 4,864,517 (GRCm39)		probably benign	Het
Tmc2	A	T	2: 130,076,789 (GRCm39)	I372F	probably damaging	Het
Tnrc6a	A	G	7: 122,770,520 (GRCm39)	D222G	probably damaging	Het
Trhde	T	G	10: 114,636,508 (GRCm39)	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,496,237 (GRCm39)	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ush2a	A	G	1: 188,460,400 (GRCm39)	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,276,204 (GRCm39)	D513G	probably damaging	Het
Vip	T	C	10: 5,594,992 (GRCm39)		probably null	Het
Vmn1r4	A	G	6: 56,934,023 (GRCm39)	I176V	probably benign	Het
Zfp804b	T	C	5: 6,819,806 (GRCm39)	T1050A	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AACTCGGATTATTCCGGCCTGAGC -3'
(R):5'- TGGAGCCCAGTCTAGGTACACAAG -3'

Sequencing Primer
(F):5'- ACCTCATGGACGGTTTCAAG -3'
(R):5'- AGGCTGCAACAGCTCAG -3'

Posted On

2014-05-23