Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Spty2d1'

316816

Institutional Source

Beutler Lab

Gene Symbol

Spty2d1

Ensembl Gene

ENSMUSG00000049516

Gene Name

SPT2 chromatin protein domain containing 1

Synonyms

5830435K17Rik

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46640144-46658159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46648329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 200 (E200G)

Ref Sequence

ENSEMBL: ENSMUSP00000059457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061639]

AlphaFold

Q68FG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061639
AA Change: E200G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: E200G

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
coiled coil region	45	82	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	199	215	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
internal_repeat_1	283	336	4.09e-5	PROSPERO
low complexity region	338	353	N/A	INTRINSIC
internal_repeat_1	366	420	4.09e-5	PROSPERO
low complexity region	434	468	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
SPT2	573	680	1.3e-32	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Spty2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Spty2d1	APN	7	46,648,735 (GRCm39)	missense	probably damaging	1.00
IGL01763:Spty2d1	APN	7	46,649,596 (GRCm39)	missense	probably damaging	0.99
IGL01988:Spty2d1	APN	7	46,647,358 (GRCm39)	missense	probably damaging	0.99
IGL02149:Spty2d1	APN	7	46,657,892 (GRCm39)	utr 5 prime	probably benign
IGL02236:Spty2d1	APN	7	46,647,360 (GRCm39)	missense	probably benign	0.02
IGL02273:Spty2d1	APN	7	46,647,321 (GRCm39)	missense	probably damaging	0.97
3-1:Spty2d1	UTSW	7	46,648,425 (GRCm39)	missense	probably damaging	1.00
R0184:Spty2d1	UTSW	7	46,647,322 (GRCm39)	missense	possibly damaging	0.94
R0201:Spty2d1	UTSW	7	46,647,649 (GRCm39)	nonsense	probably null
R1592:Spty2d1	UTSW	7	46,648,637 (GRCm39)	missense	possibly damaging	0.56
R2116:Spty2d1	UTSW	7	46,645,933 (GRCm39)	missense	probably damaging	1.00
R2171:Spty2d1	UTSW	7	46,644,361 (GRCm39)	missense	probably damaging	1.00
R2898:Spty2d1	UTSW	7	46,643,100 (GRCm39)	missense	unknown
R3857:Spty2d1	UTSW	7	46,648,044 (GRCm39)	missense	probably benign	0.04
R4319:Spty2d1	UTSW	7	46,647,883 (GRCm39)	missense	probably damaging	0.99
R4732:Spty2d1	UTSW	7	46,645,858 (GRCm39)	missense	probably damaging	1.00
R4733:Spty2d1	UTSW	7	46,645,858 (GRCm39)	missense	probably damaging	1.00
R5317:Spty2d1	UTSW	7	46,648,049 (GRCm39)	missense	possibly damaging	0.61
R5485:Spty2d1	UTSW	7	46,647,633 (GRCm39)	missense	possibly damaging	0.76
R5711:Spty2d1	UTSW	7	46,647,845 (GRCm39)	missense	possibly damaging	0.84
R5761:Spty2d1	UTSW	7	46,648,032 (GRCm39)	missense	probably damaging	1.00
R6418:Spty2d1	UTSW	7	46,647,751 (GRCm39)	missense	probably damaging	1.00
R7182:Spty2d1	UTSW	7	46,648,271 (GRCm39)	missense	probably benign	0.09
R7372:Spty2d1	UTSW	7	46,648,692 (GRCm39)	missense	probably damaging	1.00
R7798:Spty2d1	UTSW	7	46,645,804 (GRCm39)	missense	probably damaging	1.00
R8229:Spty2d1	UTSW	7	46,647,522 (GRCm39)	missense	probably benign	0.08
R8670:Spty2d1	UTSW	7	46,647,519 (GRCm39)	missense	probably benign	0.00
R9314:Spty2d1	UTSW	7	46,648,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTGCTGGGTCTGAATTTC -3'
(R):5'- CTACAATCAGGCTGAGCTGGAC -3'

Sequencing Primer
(F):5'- CTTCTCAGCTTGAGGAAAGGGC -3'
(R):5'- CTGAGCTGGACCAGGACTATG -3'

Posted On

2015-05-15