Mutagenetix > Incidental Mutation

Incidental Mutation 'R5711:Spty2d1'

452216

Institutional Source

Beutler Lab

Gene Symbol

Spty2d1

Ensembl Gene

ENSMUSG00000049516

Gene Name

SPT2 chromatin protein domain containing 1

Synonyms

5830435K17Rik

MMRRC Submission

043185-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46640144-46658159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46647845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 361 (N361K)

Ref Sequence

ENSEMBL: ENSMUSP00000059457 (fasta)

Gene Model

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

AlphaFold

Q68FG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061639
AA Change: N361K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: N361K

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: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	A	T	13: 100,790,722 (GRCm39)	T18S	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap19	A	G	19: 41,773,227 (GRCm39)	V275A	possibly damaging	Het
Cebpz	T	A	17: 79,242,040 (GRCm39)	Q538L	probably damaging	Het
Chgb	A	T	2: 132,634,618 (GRCm39)	I187F	probably benign	Het
Cldn1	C	A	16: 26,190,167 (GRCm39)	L70F	probably damaging	Het
Crybg2	A	T	4: 133,809,938 (GRCm39)	D1230V	probably damaging	Het
Csmd1	C	T	8: 16,003,703 (GRCm39)	C2617Y	probably damaging	Het
D7Ertd443e	T	A	7: 133,951,110 (GRCm39)	N188Y	probably benign	Het
Ddx51	A	G	5: 110,802,790 (GRCm39)	I214M	probably benign	Het
Dlg5	A	G	14: 24,200,716 (GRCm39)	V1328A	probably damaging	Het
Dnah2	C	T	11: 69,326,216 (GRCm39)	C3639Y	probably damaging	Het
Dync1i2	C	T	2: 71,081,326 (GRCm39)	T511I	probably benign	Het
Fam220a	A	T	5: 143,549,212 (GRCm39)	E208V	probably damaging	Het
Gm4846	T	C	1: 166,311,594 (GRCm39)	S422G	probably benign	Het
Grin2c	C	T	11: 115,141,115 (GRCm39)	R1001Q	probably benign	Het
H2-T3	T	C	17: 36,498,301 (GRCm39)	E248G	probably damaging	Het
Idi2	T	C	13: 9,008,518 (GRCm39)	V92A	probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Klhl26	T	C	8: 70,904,974 (GRCm39)	D278G	probably damaging	Het
Mok	G	T	12: 110,774,503 (GRCm39)	T228K	probably damaging	Het
Or1e22	A	G	11: 73,377,008 (GRCm39)	I214T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pabpc1	T	C	15: 36,606,074 (GRCm39)	I101V	probably benign	Het
Ppargc1a	G	T	5: 51,631,562 (GRCm39)	Q356K	probably damaging	Het
Ptprt	T	A	2: 161,652,524 (GRCm39)	D608V	probably damaging	Het
Rxfp1	C	T	3: 79,586,054 (GRCm39)	C96Y	probably damaging	Het
Scn11a	A	C	9: 119,618,990 (GRCm39)	V784G	probably damaging	Het
Septin4	T	C	11: 87,458,723 (GRCm39)	S366P	probably benign	Het
Slc12a8	A	G	16: 33,410,679 (GRCm39)	Y226C	probably damaging	Het
Slc25a33	A	G	4: 149,846,914 (GRCm39)	V49A	possibly damaging	Het
Slc25a45	T	C	19: 5,934,451 (GRCm39)	S140P	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stk4	G	A	2: 163,941,674 (GRCm39)	A297T	probably benign	Het
Thsd7b	T	A	1: 129,688,139 (GRCm39)	N683K	probably damaging	Het
Tln2	T	C	9: 67,299,829 (GRCm39)	E141G	probably benign	Het
Tmem125	A	T	4: 118,399,216 (GRCm39)	C72S	probably damaging	Het
Ttn	G	T	2: 76,572,437 (GRCm39)	T26152K	probably damaging	Het
Uhrf1	G	A	17: 56,627,259 (GRCm39)	G643D	possibly damaging	Het
Vmn2r50	C	T	7: 9,774,299 (GRCm39)	M532I	possibly damaging	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
R4080:Spty2d1	UTSW	7	46,648,329 (GRCm39)	missense	probably damaging	0.99
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
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'- CAGGACCATTTGTGCCGTTG -3'
(R):5'- CACAACAGGCCTGTCTTCAATG -3'

Sequencing Primer
(F):5'- CGTCCGGAGAGATGTGAATTGC -3'
(R):5'- TCTTCAATGGGGCTGGAAAGC -3'

Posted On

2017-01-03