Mutagenetix > Incidental Mutation

Incidental Mutation 'R5347:Sp8'

422694

Institutional Source

Beutler Lab

Gene Symbol

Sp8

Ensembl Gene

ENSMUSG00000048562

Gene Name

trans-acting transcription factor 8

Synonyms

mBtd, D930049B17Rik

MMRRC Submission

042926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118810064-118816311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118812246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 34 (K34E)

Ref Sequence

ENSEMBL: ENSMUSP00000065746 (fasta)

Gene Model

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

AlphaFold

Q8BMJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063918
AA Change: K34E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065746
Gene: ENSMUSG00000048562
AA Change: K34E

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: K34E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,782,166 (GRCm39)	Y233C	probably damaging	Het
Agl	A	G	3: 116,584,814 (GRCm39)	S169P	probably damaging	Het
Arid1b	C	T	17: 5,341,332 (GRCm39)	Q879*	probably null	Het
Bbs2	A	G	8: 94,819,178 (GRCm39)	S64P	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,391,313 (GRCm39)	T447A	probably benign	Het
Ccdc168	T	A	1: 44,096,955 (GRCm39)	Y1381F	probably benign	Het
Ccdc169	A	T	3: 55,049,740 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,546 (GRCm39)	S275P	possibly damaging	Het
Cdh15	A	G	8: 123,588,802 (GRCm39)	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnnm1	A	G	19: 43,430,301 (GRCm39)	H473R	probably benign	Het
Cplx4	G	A	18: 66,103,157 (GRCm39)		probably benign	Het
Crb1	C	T	1: 139,265,109 (GRCm39)	G103E	probably damaging	Het
Dnaja3	T	A	16: 4,512,346 (GRCm39)	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727 (GRCm39)	Q1757P	probably damaging	Het
Edem3	A	G	1: 151,683,202 (GRCm39)	Q626R	probably damaging	Het
Eif2b1	T	C	5: 124,716,862 (GRCm39)		probably benign	Het
Esf1	T	A	2: 139,996,801 (GRCm39)	K521*	probably null	Het
Fbxl3	A	C	14: 103,320,730 (GRCm39)	V239G	probably damaging	Het
Fhip2a	A	G	19: 57,367,051 (GRCm39)	D198G	probably benign	Het
Fto	A	G	8: 92,118,107 (GRCm39)		probably benign	Het
Gm5773	T	C	3: 93,681,090 (GRCm39)	L254P	probably damaging	Het
Gm5916	A	T	9: 36,032,012 (GRCm39)	W91R	probably benign	Het
Gpam	A	T	19: 55,077,269 (GRCm39)	L174H	probably damaging	Het
Grk1	G	A	8: 13,464,478 (GRCm39)	R450Q	probably damaging	Het
Hc	G	A	2: 34,927,636 (GRCm39)	A326V	probably benign	Het
Hectd4	T	C	5: 121,442,511 (GRCm39)	I1317T	probably benign	Het
Hlcs	A	G	16: 94,068,383 (GRCm39)	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,728,376 (GRCm39)		probably benign	Het
Itgax	G	A	7: 127,740,474 (GRCm39)	V754I	probably benign	Het
Krt24	T	A	11: 99,173,556 (GRCm39)	D255V	probably damaging	Het
Lnpk	T	C	2: 74,403,935 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,454,237 (GRCm39)	R478L	probably damaging	Het
Lrrc56	A	G	7: 140,789,537 (GRCm39)	Q518R	probably benign	Het
Mbl1	A	T	14: 40,880,786 (GRCm39)	I225F	probably damaging	Het
Mmp21	T	C	7: 133,277,651 (GRCm39)	S392G	probably benign	Het
Mug2	T	G	6: 122,058,551 (GRCm39)	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,202,487 (GRCm39)	N1447S	probably null	Het
Nbea	A	C	3: 55,948,297 (GRCm39)	V543G	probably damaging	Het
Necap1	A	G	6: 122,857,706 (GRCm39)	I96V	probably benign	Het
Nr3c2	T	A	8: 77,937,377 (GRCm39)	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,967 (GRCm39)	T362M	probably benign	Het
Or14j2	T	C	17: 37,885,618 (GRCm39)	E232G	probably damaging	Het
Pcare	A	G	17: 72,056,930 (GRCm39)	S916P	probably benign	Het
Plekhm3	T	C	1: 64,859,149 (GRCm39)	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sbk3	A	T	7: 4,970,422 (GRCm39)	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,441,767 (GRCm39)	L233P	probably damaging	Het
Set	T	A	2: 29,959,422 (GRCm39)	S132T	possibly damaging	Het
Slc17a4	C	T	13: 24,092,800 (GRCm39)	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,595,917 (GRCm39)	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,032,325 (GRCm39)	L600P	probably damaging	Het
Spen	T	A	4: 141,198,796 (GRCm39)	E3254V	probably benign	Het
Tcf12	G	A	9: 71,792,525 (GRCm39)	P53S	probably damaging	Het
Tcf3	A	G	10: 80,246,045 (GRCm39)	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,514,908 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,230,479 (GRCm39)	V892D	probably damaging	Het
Tub	G	T	7: 108,625,978 (GRCm39)	R243L	possibly damaging	Het
Tubgcp5	A	G	7: 55,473,433 (GRCm39)	Y837C	probably damaging	Het
Utp25	A	T	1: 192,810,687 (GRCm39)	D105E	probably benign	Het
Wdhd1	A	T	14: 47,506,181 (GRCm39)	Y244*	probably null	Het
Xdh	T	A	17: 74,232,027 (GRCm39)	T228S	probably benign	Het
Zfp418	A	C	7: 7,185,534 (GRCm39)	Q499P	probably benign	Het
Zfpm1	G	A	8: 123,062,269 (GRCm39)	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950 (GRCm39)	H605R	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
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'- GAGGCTACCAGGGGACTAATAC -3'
(R):5'- CGCAGCTAAAAGAGTCGGAC -3'

Sequencing Primer
(F):5'- CAGGGGACTAATACACATTTCTTTCC -3'
(R):5'- CAGCTAAAAGAGTCGGACACCAG -3'

Posted On

2016-08-04