Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Spty2d1'

181996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spty2d1

Ensembl Gene

ENSMUSG00000049516

Gene Name

SPT2 chromatin protein domain containing 1

Synonyms

5830435K17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

46640144-46658159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46647358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 524 (S524C)

Ref Sequence

ENSEMBL: ENSMUSP00000059457 (fasta)

Gene Model

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

AlphaFold

Q68FG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061639
AA Change: S524C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: S524C

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

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Col24a1	T	C	3: 145,229,922 (GRCm39)		probably null	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dcaf12	T	C	4: 41,298,299 (GRCm39)	N283S	probably benign	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Syndig1	T	C	2: 149,845,090 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tmem176a	T	A	6: 48,819,554 (GRCm39)	V11E	possibly damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	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
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
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

Posted On

2014-05-07