Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Spty2d1'

23636

Institutional Source

Beutler Lab

Gene Symbol

Spty2d1

Ensembl Gene

ENSMUSG00000049516

Gene Name

SPT2 chromatin protein domain containing 1

Synonyms

5830435K17Rik

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46640144-46658159 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 46647649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 427 (R427*)

Ref Sequence

ENSEMBL: ENSMUSP00000059457 (fasta)

Gene Model

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

AlphaFold

Q68FG3

Predicted Effect

probably null
Transcript: ENSMUST00000061639
AA Change: R427*

SMART Domains

Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: R427*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,010,867 (GRCm39)	S3*	probably null	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 88,198,741 (GRCm39)	T43K	probably benign	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mcu	A	G	10: 59,292,499 (GRCm39)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Papln	A	G	12: 83,829,801 (GRCm39)		probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,060,977 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AAGACTGTTCATTGGTCGTCGAAGG -3'
(R):5'- GTTCACCAAGTGTCCCAAAGACTCC -3'

Sequencing Primer
(F):5'- CGAAGGTCATGTGGATTGTTTACAG -3'
(R):5'- CGGGACTCAGAAATCTGCTTC -3'

Posted On

2013-04-16